MCID: PRP029
MIFTS: 62

Porphyria

Categories: Genetic diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Porphyria

MalaCards integrated aliases for Porphyria:

Name: Porphyria 12 74 52 25 58 36 29 54 42 15
Hematoporphyria 12 25
Disorder of Porphyrin and Heme Metabolism 58
Disorder of Porphyrin and Hem Metabolism 12
Disorders of Porphyrin Metabolism 71
Disorder of Porphyrin Metabolism 12
Porphyrin Disorder 25
Porphyrinopathy 12
Porphyrias 43

Characteristics:

Orphanet epidemiological data:

58
porphyria
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: All ages;

Classifications:

Orphanet: 58  
Rare renal diseases
Rare skin diseases
Inborn errors of metabolism


Summaries for Porphyria

Genetics Home Reference : 25 Porphyria is a group of disorders caused by abnormalities in the chemical steps that lead to heme production. Heme is a vital molecule for all of the body's organs, although it is most abundant in the blood, bone marrow, and liver. Heme is a component of several iron-containing proteins called hemoproteins, including hemoglobin (the protein that carries oxygen in the blood). Researchers have identified several types of porphyria, which are distinguished by their genetic cause and their signs and symptoms. Some types of porphyria, called cutaneous porphyrias, primarily affect the skin. Areas of skin exposed to the sun become fragile and blistered, which can lead to infection, scarring, changes in skin coloring (pigmentation), and increased hair growth. Cutaneous porphyrias include congenital erythropoietic porphyria, erythropoietic protoporphyria, hepatoerythropoietic porphyria, and porphyria cutanea tarda. Other types of porphyria, called acute porphyrias, primarily affect the nervous system. These disorders are described as "acute" because their signs and symptoms appear quickly and usually last a short time. Episodes of acute porphyria can cause abdominal pain, vomiting, constipation, and diarrhea. During an episode, a person may also experience muscle weakness, seizures, fever, and mental changes such as anxiety and hallucinations. These signs and symptoms can be life-threatening, especially if the muscles that control breathing become paralyzed. Acute porphyrias include acute intermittent porphyria and ALAD deficiency porphyria. Two other forms of porphyria, hereditary coproporphyria and variegate porphyria, can have both acute and cutaneous symptoms. The porphyrias can also be split into erythropoietic and hepatic types, depending on where damaging compounds called porphyrins and porphyrin precursors first build up in the body. In erythropoietic porphyrias, these compounds originate in the bone marrow. Erythropoietic porphyrias include erythropoietic protoporphyria and congenital erythropoietic porphyria. Health problems associated with erythropoietic porphyrias include a low number of red blood cells (anemia) and enlargement of the spleen (splenomegaly). The other types of porphyrias are considered hepatic porphyrias. In these disorders, porphyrins and porphyrin precursors originate primarily in the liver, leading to abnormal liver function and an increased risk of developing liver cancer. Environmental factors can strongly influence the occurrence and severity of signs and symptoms of porphyria. Alcohol, smoking, certain drugs, hormones, other illnesses, stress, and dieting or periods without food (fasting) can all trigger the signs and symptoms of some forms of the disorder. Additionally, exposure to sunlight worsens the skin damage in people with cutaneous porphyrias.

MalaCards based summary : Porphyria, also known as hematoporphyria, is related to porphyria cutanea tarda, type i and porphyria, congenital erythropoietic, and has symptoms including nausea and vomiting, constipation and abdominal pain. An important gene associated with Porphyria is HMBS (Hydroxymethylbilane Synthase), and among its related pathways/superpathways are Porphyrin and chlorophyll metabolism and Metabolism. The drugs Lidocaine and Prednisone have been mentioned in the context of this disorder. Affiliated tissues include liver, skin and bone, and related phenotypes are abnormal urinary color and abnormal circulating porphyrin concentration

Disease Ontology : 12 An inherited metabolic disorder that involves certain enzymes in the heme bio-synthetic pathway resulting in the overproduction and accumulation of the porphyrins.

NIH Rare Diseases : 52 Porphyrias are a group of blood conditions caused by a lack of an enzyme in the body that makes heme, an important molecule that carries oxygen throughout the body and is vital for all of the body's organs . Major types include ALAD deficiency porphyria , acute intermittent porphyria , congenital erythropoietic porphyria , erythropoietic protoporphyria , hepatoerythropoietic porphyria , hereditary coproporphyria , porphyria cutanea tarda , and variegate porphyria . The most common type of porphyria is porphyria cutanea tarda. Some of the symptoms of porphyria include blistering, swelling, and itching when the skin is exposed to sun. Other symptoms may also include pain, numbness or tingling, vomiting, constipation, and intellectual disability . There is no known cure for porphyria, but the various types have different courses of treatment, and may include bone marrow transplant . Most porphyrias are inherited conditions with either an autosomal dominant or autosomal recessive pattern of inheritance. However, some forms of porphyria can be caused by environmental factors such as infections or exposures to certain prescription drugs. Porphyrias caused by environmental factors are called sporadic or acquired porphyria.

MedlinePlus : 42 Porphyrias are a group of genetic disorders caused by problems with how your body makes a substance called heme. Heme is found throughout the body, especially in your blood and bone marrow, where it carries oxygen. There are two main types of porphyrias. One affects the skin and the other affects the nervous system. People with the skin type develop blisters, itching, and swelling of their skin when it is exposed to sunlight. The nervous system type is called acute porphyria. Symptoms include pain in the chest, abdomen, limbs, or back; muscle numbness, tingling, paralysis, or cramping; vomiting; constipation; and personality changes or mental disorders. These symptoms come and go. Certain triggers can cause an attack, including some medicines, smoking, drinking alcohol, infections, stress, and sun exposure. Attacks develop over hours or days. They can last for days or weeks. Porphyria can be hard to diagnose. It requires blood, urine, and stool tests. Each type of porphyria is treated differently. Treatment may involve avoiding triggers, receiving heme through a vein, taking medicines to relieve symptoms, or having blood drawn to reduce iron in the body. People who have severe attacks may need to be hospitalized. NIH: National Institute of Diabetes and Digestive and Kidney Diseases

KEGG : 36 Porphyria is an inborn error of heme biosynthesis porphyrin metabolism caused by deficiency of enzymes of porphyrin metabolism. The intermediates of this pathway (porphyrinogens, porphyrins and their precursors) are produced in excess and accumulate in tissues, resulting in neurological and/or photocutaneous symptoms, and hematological disturbances. Porphyrias are divided into erythropoietic and hepatic according to the predominant porphyrin-accumulating tissue. Erythropoietic porphyrias include erythropoietic protoporphyria (EPP), congenital erythropoietic porphyria (CEP), and the very rare hepatoerythropoietic porphyria (HEP). Hepatic porphyrias include ALA-dehydratase deficiency porphyria (ADP), acute intermittent porphyria (AIP), porphyria cutanea tarda (PCT), hereditary coproporphyria (HCP), and variegate porphyria (VP). Recently, a new type of erythroid porphyria, X-linked dominant protoporphyria (XLDPP) has been reported.

Wikipedia : 74 Porphyria is a group of diseases in which substances called porphyrins build up, negatively affecting... more...

Related Diseases for Porphyria

Diseases in the Porphyria family:

Acute Porphyria

Diseases related to Porphyria via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 608)
# Related Disease Score Top Affiliating Genes
1 porphyria cutanea tarda, type i 34.8 UROD HFE
2 porphyria, congenital erythropoietic 34.4 UROS UROD HMBS GATA1 FECH CPOX
3 familial porphyria cutanea tarda 34.3 UROD HFE
4 variegate porphyria 34.0 UROS UROD PPOX HMBS HFE FECH
5 porphyria, acute intermittent 33.9 UROS UROD PPOX HMOX1 HMBS FECH
6 coproporphyria, hereditary 33.5 UROS UROD PPOX HMBS FECH CPOX
7 cutaneous porphyria 33.4 UROS UROD PPOX HMBS HFE GATA1
8 porphyria cutanea tarda 32.8 UROS UROD TFRC TF SLC40A1 PPOX
9 acute porphyria 32.6 UROS UROD TDO2 PPOX HMOX1 HMBS
10 protoporphyria, erythropoietic, 1 32.0 UROS UROD TFRC PPOX HMOX1 HMBS
11 hypertrichosis 31.3 UROS UROD PPOX HFE
12 x-linked protoporphyria 31.0 FECH ALAS2
13 hemosiderosis 30.6 UROD TFRC TF SLC40A1 HFE HAMP
14 hemolytic anemia 30.6 UROS TFRC TF HMOX1 CPOX
15 inherited metabolic disorder 30.6 HFE HAMP FECH
16 cicatricial ectropion 30.5 UROS UROD
17 scleromalacia perforans 30.4 UROS CPOX
18 hypochromic microcytic anemia 30.2 TF HAMP ALAS2
19 siderosis 30.2 UROD TFRC TF SLC40A1 HMOX1 HFE
20 iron metabolism disease 30.1 TFRC TF SLC40A1 HFE HAMP
21 hemochromatosis, type 1 30.1 UROD TFRC TF SLC40A1 HMOX1 HFE
22 thalassemia 30.0 TFRC TF SLC40A1 HFE HAMP GATA1
23 beta-thalassemia 29.9 TFRC TF HFE HAMP GATA1
24 hemochromatosis, type 3 29.7 TFRC SLC40A1 HFE HAMP
25 iron deficiency anemia 29.6 TFRC TF SLC40A1 HFE HAMP
26 microcytic anemia 29.6 TFRC TF SLC40A1 HAMP ALAS2
27 sideroblastic anemia 29.5 UROD TFRC SLC40A1 HFE HAMP FECH
28 deficiency anemia 29.3 TFRC TF SLC40A1 HMOX1 HFE HAMP
29 aceruloplasminemia 29.2 TFRC SLC40A1 HFE HAMP ALAS2 ALAS1
30 anemia, sideroblastic, 1 29.2 UROS TFRC SLC40A1 HAMP FECH ALAS2
31 porphyria, acute hepatic 12.8
32 chester porphyria 12.7
33 aminolevulinic acid dehydratase deficiency porphyria 12.5
34 chronic hepatic porphyria 12.4
35 aminolevulinate dehydratase deficiency porphyria 12.3
36 protoporphyria, erythropoietic, x-linked 11.8
37 erythropoietic uroporphyria associated with myeloid malignancy 11.7
38 dyserythropoietic anemia and thrombocytopenia 11.4
39 protoporphyria, erythropoietic, 2 11.3
40 maleylacetoacetate isomerase deficiency 11.1
41 rare hereditary hemochromatosis 10.7
42 hepatitis c 10.7
43 hepatitis c virus 10.6
44 neuropathy 10.6
45 hepatocellular carcinoma 10.5
46 autosomal recessive disease 10.5
47 lupus erythematosus 10.5
48 dowling-degos disease 1 10.5
49 polyneuropathy 10.5
50 liver disease 10.5

Comorbidity relations with Porphyria via Phenotypic Disease Network (PDN):


Hypertension, Essential

Graphical network of the top 20 diseases related to Porphyria:



Diseases related to Porphyria

Symptoms & Phenotypes for Porphyria

Human phenotypes related to Porphyria:

58 31 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormal urinary color 58 31 hallmark (90%) Very frequent (99-80%) HP:0012086
2 abnormal circulating porphyrin concentration 31 hallmark (90%) HP:0010472
3 nausea and vomiting 58 31 frequent (33%) Frequent (79-30%) HP:0002017
4 sleep disturbance 58 31 frequent (33%) Frequent (79-30%) HP:0002360
5 constipation 58 31 frequent (33%) Frequent (79-30%) HP:0002019
6 hypertension 58 31 frequent (33%) Frequent (79-30%) HP:0000822
7 fatigue 58 31 frequent (33%) Frequent (79-30%) HP:0012378
8 abdominal pain 58 31 frequent (33%) Frequent (79-30%) HP:0002027
9 abnormal blistering of the skin 58 31 frequent (33%) Frequent (79-30%) HP:0008066
10 pruritus 58 31 frequent (33%) Frequent (79-30%) HP:0000989
11 cutaneous photosensitivity 58 31 frequent (33%) Frequent (79-30%) HP:0000992
12 abnormality of skin pigmentation 58 31 frequent (33%) Frequent (79-30%) HP:0001000
13 chest pain 58 31 frequent (33%) Frequent (79-30%) HP:0100749
14 anorexia 58 31 frequent (33%) Frequent (79-30%) HP:0002039
15 diarrhea 58 31 frequent (33%) Frequent (79-30%) HP:0002014
16 seizures 58 31 occasional (7.5%) Occasional (29-5%) HP:0001250
17 muscle weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0001324
18 hallucinations 58 31 occasional (7.5%) Occasional (29-5%) HP:0000738
19 fever 58 31 occasional (7.5%) Occasional (29-5%) HP:0001945
20 paresthesia 58 31 occasional (7.5%) Occasional (29-5%) HP:0003401
21 cerebral palsy 58 31 occasional (7.5%) Occasional (29-5%) HP:0100021
22 dupuytren contracture 58 31 occasional (7.5%) Occasional (29-5%) HP:0005679
23 behavioral abnormality 58 Occasional (29-5%)
24 abnormality of the heme biosynthetic pathway 58 Very frequent (99-80%)

UMLS symptoms related to Porphyria:


nausea and vomiting, constipation, abdominal pain, pruritus, diarrhea, icterus, exanthema, dyspepsia, heartburn, gastrointestinal gas

GenomeRNAi Phenotypes related to Porphyria according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00240-S-1 10.07 GATA1 TFRC
2 Decreased viability GR00381-A-1 10.07 HMBS PPOX UROD UROS
3 Decreased viability GR00402-S-2 10.07 ALAD ALAS1 ALAS2 CLPX CPOX CYP1A2
4 no effect GR00402-S-1 9.62 ALAD ALAS1 ALAS2 CLPX CPOX CYP1A2

MGI Mouse Phenotypes related to Porphyria:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.13 ALAS1 CLPX CPOX FECH GATA1 HFE
2 embryo MP:0005380 10.11 ALAS1 ALAS2 CLPX CPOX DPAGT1 FECH
3 homeostasis/metabolism MP:0005376 10.06 ALAD ALAS2 CPOX CYP1A2 FECH GATA1
4 hematopoietic system MP:0005397 9.96 ALAS2 CPOX FECH GATA1 HFE HMOX1
5 liver/biliary system MP:0005370 9.61 CYP1A2 FECH GATA1 HFE HMOX1 SLC40A1
6 mortality/aging MP:0010768 9.58 ALAD ALAS1 ALAS2 CLPX CPOX CYP1A2

Drugs & Therapeutics for Porphyria

Drugs for Porphyria (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 125)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
2
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
3
chloroquine Approved, Investigational, Vet_approved Phase 4 54-05-7 2719
4
Azathioprine Approved Phase 4 446-86-6 2265
5
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
6
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
7 Neurotransmitter Agents Phase 4
8 Excitatory Amino Acid Antagonists Phase 4
9 Excitatory Amino Acids Phase 4
10 Hormone Antagonists Phase 4
11 Hormones Phase 4
12 Antimetabolites Phase 4
13 Anti-Infective Agents Phase 4
14 Antiparasitic Agents Phase 4
15 Antiprotozoal Agents Phase 4
16 Antimalarials Phase 4
17 Antirheumatic Agents Phase 4
18 Central Nervous System Depressants Phase 4
19 Pharmaceutical Solutions Phase 4
20 Anesthetics Phase 4
21 Anti-Inflammatory Agents Phase 4
22 glucocorticoids Phase 4
23 Immunologic Factors Phase 4
24 Anti-Inflammatory Agents, Non-Steroidal Phase 4
25 Analgesics, Non-Narcotic Phase 4
26 Chloroquine diphosphate Phase 4 50-63-5
27 Antineoplastic Agents, Hormonal Phase 4
28 Immunosuppressive Agents Phase 4
29 Anthelmintics Phase 4
30 Analgesics Phase 4
31 Hypnotics and Sedatives Phase 4
32 Anesthetics, General Phase 4
33 Anesthetics, Dissociative Phase 4
34 Anesthetics, Intravenous Phase 4
35
Deferasirox Approved, Investigational Phase 3 201530-41-8 5493381
36
Colestipol Approved Phase 2, Phase 3 26658-42-4
37
Atorvastatin Approved Phase 3 134523-00-5 60823
38
Cysteine Approved, Nutraceutical Phase 3 52-90-4 5862
39 Anesthetics, Local Phase 3
40 Anti-Arrhythmia Agents Phase 3
41 Sodium Channel Blockers Phase 3
42 Diuretics, Potassium Sparing Phase 3
43 Chelating Agents Phase 3
44 Iron Chelating Agents Phase 3
45 Hypolipidemic Agents Phase 3
46 Lipid Regulating Agents Phase 3
47 Anticholesteremic Agents Phase 3
48 carnitine Phase 3
49 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 3
50
Ledipasvir Approved Phase 2 1256388-51-8 67505836

Interventional clinical trials:

(show top 50) (show all 60)
# Name Status NCT ID Phase Drugs
1 Possible Role of Chloroquine in Conjunction to Prednisone to Induce a Complete Remission in the Treatment of Autoimmune Hepatitis: a Randomized Trial Completed NCT02463331 Phase 4 Chloroquine diphosphate;prednisone;azathioprine
2 DOUBLE-BLIND RANDOMIZED CLINICAL TRIAL WITH CHLOROQUINE VERSUS PLACEBO FOR MAINTENANCE OF REMISSION OF AUTOIMMUNE HEPATITIS Completed NCT01980745 Phase 4 Chloroquine diphosphate 250mg;Placebo
3 EFFICACY OF KETAMINE-PROPOFOL COMBINATION FOR SHORT SURGICAL PROCEDURES Completed NCT01651988 Phase 4 Ketamina-Propofol Combination
4 Effect of Continuous Intravenous Lidocaine on Early Rehabilitation in Bariatric Surgery. A Randomized Double Blind Controlled Study Unknown status NCT03211455 Phase 3 Lidocaine;isotonic saline
5 Pilot Trial of Deferasirox in the Treatment of Porphyria Cutanea Tarda Completed NCT00599326 Phase 3 Deferasirox
6 Sorbent Therapy of the Cutaneous Porphyrias Completed NCT01422915 Phase 2, Phase 3 Colestipol
7 A Multi-centre, Double-blind, Randomized, Placebo-controlled, Parallel Group Trial, Investigating the Efficacy and Safety of Porphozym (Recombinant Human Porphobilinogen Deaminase) in the Treatment of Acute Attacks in AIP Completed NCT00418795 Phase 2, Phase 3 recombinant human porphobilinogen deaminase (Porphozym)
8 Phase III Study of L-Cysteine in Patients With Erythropoietic Protoporphyria Completed NCT00004940 Phase 3 cysteine hydrochloride
9 ENVISION: A Phase 3 Randomized, Double-blind, Placebo-Controlled Multicenter Study With an Open-label Extension to Evaluate the Efficacy and Safety of Givosiran in Patients With Acute Hepatic Porphyrias Active, not recruiting NCT03338816 Phase 3 Givosiran;Placebo
10 Estudio clínico Fase III Para Evaluar la Eficacia terapéutica en Pacientes Mexicanos Con Dislipidemia Mediante el Uso vía Oral de L-Carnitina + Atorvastatina Comparado Con Atorvastatina Active, not recruiting NCT03696940 Phase 3 L-Carnitine 500Mg Oral Tablet + Atorvastatin 10 mg;Atorvastatin 10mg
11 A Phase II, Open Label Clinical Trial Exploring the Safety and the Efficacy of Oral Deferasirox in Patients Newly Diagnosed With Porphyria Cutanea Tarda (PCT) and Non-transfusion Iron Overload Unknown status NCT01284946 Phase 2 Exjade
12 Phase II Study of Heme Arginate in Patients Planned for Cardiac Surgery Unknown status NCT02142699 Phase 2 Heme arginate
13 Studies in Porphyria III: Heme and Tin Mesoporphyrin in Acute Porphyrias Completed NCT00004396 Phase 2 heme arginate;tin mesoporphyrin
14 Phase I/II Study of Heme Arginate and Tin Mesoporphyrin for Acute Porphyria Completed NCT00004789 Phase 1, Phase 2 heme arginate;tin mesoporphyrin
15 A Pilot Study of Hemin Therapy for Gastroparesis Completed NCT01206582 Phase 2
16 A Safety and Efficacy Study to Evaluate Intravenous Heme Arginate Infusion in Patients With an Acute Coronary Syndrome Without ST-elevation (NSTEMI) Completed NCT00483587 Phase 1, Phase 2 Heme arginate
17 Safety and Efficacy of Panhematin™ for Prevention of Acute Attacks of Porphyria Recruiting NCT02922413 Phase 2
18 Newer Direct-Acting Anti-Viral Agents as Sole Therapy of Porphyria Cutanea Tarda in Subjects With Chronic Hepatitis C Recruiting NCT03118674 Phase 2 Harvoni
19 A Prospective Comparison of Low Dose Hydroxychloroquine and Phlebotomy in the Treatment of Porphyria Cutanea Tarda. IRB 02-435 Recruiting NCT01573754 Phase 2 Hydroxychloroquine
20 A Multicenter, Open-label Extension Study to Evaluate the Long-term Safety and Clinical Activity of Subcutaneously Administered ALN-AS1 in Patients With Acute Intermittent Porphyria Who Have Completed a Previous Clinical Study With ALN-AS1 Active, not recruiting NCT02949830 Phase 1, Phase 2 givosiran (ALN-AS1)
21 A Double-blind, Randomized, Placebo-controlled, Parallel Group Trial on the Efficacy and Safety of PanhematinTM in the Treatment of Acute Attacks of Porphyria Active, not recruiting NCT02180412 Phase 2
22 A Phase 2, Open-Label, Multiple-Dose Study Investigating the Efficacy and Safety of Panhematin in Patients With Low or Intermediate-1 Risk Myelodysplastic Syndrome Terminated NCT00467610 Phase 2 Panhematin
23 A Drug-Drug Interaction Study to Investigate the Effect of Givosiran on the Pharmacokinetics (PK) of Midazolam, Caffeine, Losartan, Omeprazole, and Dextromethorphan in Patients With Acute Intermittent Porphyria (AIP) Who Are Asymptomatic High Excreters (ASHE) Completed NCT03505853 Phase 1 Givosiran;5-probe cocktail
24 A Phase 1, Single-ascending Dose, Multiple-ascending Dose, and Multi-dose Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics Study of Subcutaneously Administered ALN AS1 in Patients With Acute Intermittent Porphyria (AIP) Completed NCT02452372 Phase 1 givosiran (ALN-AS1);Sterile Normal Saline (0.9% NaCl)
25 Phase I Study of Tin Mesoporphyrin in Patients on Long Term Heme Therapy for Prevention of Acute Attacks of Porphyria Completed NCT00004397 Phase 1 heme arginate;tin mesoporphyrin
26 Phase I Study of Heme Arginate With or Without Tin Mesoporphyrin in Patients With Acute Attacks of Porphyria Completed NCT00004398 Phase 1 heme arginate;tin mesoporphyrin
27 Phase I, Multicentre, Open Label, Single Dose, Dose-ranging Clinical Trial to Investigate the Safety and Tolerability of a Gene Therapy rAAV2/5-PBGD for the Treatment of Acute Intermittent Porphyria Completed NCT02082860 Phase 1
28 A Single Center, Single Dose, Open-Label, Two-Period Replicate Pilot Study to Investigate Intra-subject Variability in the Bioavailability of a Formulation Containing Chlorpromazine Hydrochloride (25 mg Sugar Coated Tablets) in at Least 16 Healthy Males and Females Under Fasting Conditions Completed NCT02943213 Phase 1 Chlorpromazine Hydrochloride
29 Effect of Hemin on Heme-Oxygenase-1 Activity in Healthy Subjects Completed NCT00882804 Phase 1 Hemin infusion;placebo infusion
30 PentoxIfylline and Tocopherol for the Treatment of Post-radiotherapy Fibrosis in Head and Neck Cancer Patients: a Feasibility Study Not yet recruiting NCT03723291 Phase 1
31 Studies in Porphyria I: Characterization of Enzyme Defects Unknown status NCT00004331
32 Pattern of Skin Manifestations in Chronic Hepatitis c Virus Patients Before and After Direct Acting Anti Viral Drugs: Prospective Controlled Clinical Trial Unknown status NCT03170076
33 The Effects of Visible Light on the Skin After Administration of Oral Polypodium Leucotomos Unknown status NCT02904798 Polypodium Leucotomos
34 Is Outpatient PDD Guided Laser Mediated Destruction of Bladder Tumors (LMD-BT) as Good as Conventional Inpatient PDD Guided Transurethral Tumor Resection in Patients With Low Grade Non-invasive (Ta) Bladder Tumors? Unknown status NCT02886026
35 Randomized Controlled Study of Off-Label Use of Ribavirin in Management of Mucocutaneous Extrahepatic Manifestations of HCV Infection Unknown status NCT02261662 Ribavirin;Betamethasone
36 “Factors Associated With Porphyria Cutanea Tarda in Patients Infected With Hepatitis C Virus” Completed NCT00213772
37 Studies in Porphyria IV: Gonadotropin-Releasing Hormone (GnRH) Analogues for Prevention of Cyclic Attacks Completed NCT00004330 luteinizing hormone-releasing factor
38 Clinical Diagnosis of Acute Porphyria Completed NCT01568554
39 Study of Nutritional Factors in Porphyria Completed NCT00004788
40 Evidence-based Assessment of Medication Sensitivity in Acute Hepatic Porphyria Completed NCT03906214
41 Study of the Pathogenesis of Porphyria Cutanea Tarda Completed NCT00005103
42 Erythropoietic Protoporphyrias: Studies of the Natural History, Genotype-Phenotype Correlations, and Psychosocial Impact Completed NCT01688895
43 Observational Study of Acute Intermittent Porphyria Patients Completed NCT02076763
44 Diagnostic and Screening Study of Genetic Disorders Completed NCT00006057
45 Study of Cysteine Hydrochloride for Erythropoietic Protoporphyria Completed NCT00004831 cysteine hydrochloride
46 Effect of Oral Iron Therapy on Erythrocyte Protoporphyrin Levels in the Erythropoietic Protoporphyrias Completed NCT02979249 Oral Iron
47 A Randomized, Placebo-Controlled, Double-Blinded Study of Mifepristone in Midtrimester Termination of Pregnancy Completed NCT00382538 Addition of mifepristone 200 mg 24 hours before induction
48 Fetal Fibronectin as a Predictor of Successful Induction of Mid-trimester Abortion Completed NCT02694198
49 Effects of Bright Light to Improve Agitation and Sleep Disorders in Patients With Alzheimer's Disease Completed NCT02686190
50 A Natural History Study of Acute Hepatic Porphyria (AHP) Patients With Recurrent Attacks Recruiting NCT02240784

Search NIH Clinical Center for Porphyria

Cochrane evidence based reviews: porphyrias

Genetic Tests for Porphyria

Genetic tests related to Porphyria:

# Genetic test Affiliating Genes
1 Porphyria 29

Anatomical Context for Porphyria

MalaCards organs/tissues related to Porphyria:

40
Liver, Skin, Bone, Bone Marrow, Testes, Kidney, Heart

Publications for Porphyria

Articles related to Porphyria:

(showing 7132, show less)
# Title Authors PMID Year
1
Self-efficacy and self-management strategies in acute intermittent porphyria. 61 42
31269991 2019
2
Case for diagnosis. Sclerodermiform manifestations of porphyria cutanea tarda secondary to hepatitis C. 61 42
31644627 2019
3
A Rare Complication of a Rare Disease. 42
31377276 2019
4
Hepatoerythropoietic porphyria misdiagnosed as child abuse: cutaneous, arthritic, and hematologic manifestations in siblings with a novel UROD mutation. 54 61
20479301 2010
5
Associations among behavior-related susceptibility factors in porphyria cutanea tarda. 54 61
19948245 2010
6
Molecular epidemiology of erythropoietic protoporphyria in the U.K. 54 61
20105171 2010
7
Allosteric inhibition of human porphobilinogen synthase. 54 61
19812033 2009
8
Understanding the mechanism of drug resistance due to a codon deletion in protoporphyrinogen oxidase through computational modeling. 54 61
19284797 2009
9
Co-synthesis of Human delta-Aminolevulinate Dehydratase (ALAD) Mutants with the Wild-type Enzyme in Cell-free System-Critical Importance of Conformation on Enzyme Activity-. 54 61
19015748 2008
10
Characterization of two missense variants in the hydroxymethylbilane synthase gene in the Israeli population, which differ in their associations with acute intermittent porphyria. 54 61
18406650 2008
11
[Successful gene therapy of mice with congenital erythropoietic porphyria]. 54 61
18601879 2008
12
Essential role of the AH receptor in the dysfunction of heme metabolism induced by 2,3,7,8-tetrachlorodibenzo-p-dioxin. 54 61
18163543 2008
13
Gene dosage analysis identifies large deletions of the FECH gene in 10% of families with erythropoietic protoporphyria. 54 61
17597821 2007
14
Heme regulates exocrine peptidase precursor genes in zebrafish. 54 61
17895525 2007
15
Paraneoplastic porphyria cutanea tarda associated with cholangiocarcinoma: case report. 54 61
17891697 2007
16
Congenital erythropoietic porphyria due to a mutation in GATA1: the first trans-acting mutation causative for a human porphyria. 54 61
17148589 2007
17
A porphomethene inhibitor of uroporphyrinogen decarboxylase causes porphyria cutanea tarda. 54 61
17360334 2007
18
ALAD porphyria is a conformational disease. 54 61
17236137 2007
19
Swiss patients with variegate porphyria have unique mutations. 54 61
16947091 2006
20
Acquired erythropoietic protoporphyria as a result of myelodysplasia causing loss of chromosome 18. 54 61
16882191 2006
21
Dual porphyria with mutations in both the UROD and HMBS genes. 54 61
16390615 2006
22
Porphyria syndrome associated with diabetic nephrosclerosis and erythropoietin. 54 61
17435269 2006
23
Dual gene defects involving delta-aminolaevulinate dehydratase and coproporphyrinogen oxidase in a porphyria patient. 54 61
16398658 2006
24
Overrepresentation of the founder PPOX gene mutation R59W in a South African patient with severe clinical manifestation of porphyria. 54 61
15660919 2005
25
Hepatoerythropoietic porphyria: a missense mutation in the UROD gene is associated with mild disease and an unusual porphyrin excretion pattern. 54 61
15491440 2004
26
Modulation of penetrance by the wild-type allele in dominantly inherited erythropoietic protoporphyria and acute hepatic porphyrias. 54 61
14669009 2004
27
The third case of Doss porphyria (delta-amino-levulinic acid dehydratase deficiency) in Germany. 54 61
15303011 2004
28
[Treatment of acute porphyrias. The importance of follow-up of patients and carriers]. 54 61
12809070 2003
29
Clinical relevance of hemochromatosis-related HFE C282Y/H63D gene mutations in patients on chronic dialysis. 54 61
12508966 2002
30
Molecular characterization of porphyrias in Italy: a diagnostic flow-chart. 54 61
12699245 2002
31
Non-ahr gene susceptibility Loci for porphyria and liver injury induced by the interaction of 'dioxin' with iron overload in mice. 54 61
11854449 2002
32
Late-onset porphyrias: what are they? 54 61
11929054 2002
33
Highly heterogeneous nature of delta-aminolevulinate dehydratase (ALAD) deficiencies in ALAD porphyria. 54 61
11342419 2001
34
A mouse model of familial porphyria cutanea tarda. 54 61
11134514 2001
35
Molecular analysis of delta-aminolevulinate dehydratase deficiency in a patient with an unusual late-onset porphyria. 54 61
11071662 2000
36
Mutations in familial porphyria cutanea tarda: two novel and two previously described for hepatoerythropoietic porphyria. 54 61
10980536 2000
37
Novel molecular defects of the delta-aminolevulinate dehydratase gene in a patient with inherited acute hepatic porphyria. 54 61
10706561 2000
38
Molecular aspects of the inherited porphyrias. 54 61
10692079 2000
39
The cutaneous porphyrias. 54 61
10604794 1999
40
Formation of N-alkylprotoporphyrin IX after interaction of porphyrinogenic xenobiotics with rat liver microsomes. 54 61
10964007 1999
41
Spectrum of mutations in the HFE gene implicated in haemochromatosis and porphyria. 54 61
10401000 1999
42
Correction of uroporphyrinogen decarboxylase deficiency (hepatoerythropoietic porphyria) in Epstein-Barr virus-transformed B-cell lines by retrovirus-mediated gene transfer: fluorescence-based selection of transduced cells. 54 61
10397714 1999
43
Investigations on the formation of urinary coproporphyrin isomers I-IV in 5-aminolevulinic acid dehydratase deficiency porphyria, acute lead intoxication and after oral 5-aminolevulinic acid loading. 54 61
10211628 1999
44
Screening for mutations in the uroporphyrinogen decarboxylase gene using denaturing gradient gel electrophoresis. Identification and characterization of six novel mutations associated with familial PCT. 54 61
10477430 1999
45
Chromosomal linkage analysis of porphyria in mice induced by hexachlorobenzene-iron synergism: a model of sporadic porphyria cutanea tarda. 54 61
9918132 1998
46
5-Aminolevulinic acid dehydratase deficiency porphyria: a twenty-year clinical and biochemical follow-up. 54 61
9732973 1998
47
Crystal structure of human uroporphyrinogen decarboxylase. 54 61
9564029 1998
48
Erythrocyte uroporphyrinogen decarboxylase activity: diagnostic value and relationship with clinical features in hereditary porphyria cutanea tarda. 54 61
9427577 1998
49
ALAD porphyria. 54 61
9516683 1998
50
[ALAD deficiency porphyria (ADP)]. 54 61
9645025 1998
51
[Effect of the thioctamide in relation to the hexachlorobenzene action]. 54 61
9777036 1998
52
Five new mutations in the uroporphyrinogen decarboxylase gene identified in families with cutaneous porphyria. 54 61
8896428 1996
53
Mouse uroporphyrinogen decarboxylase: cDNA cloning, expression, and mapping. 54 61
8661721 1996
54
Uroporphyrin accumulation associated with cytochrome P4501A induction in fish hepatoma cells exposed to aryl hydrocarbon receptor agonists, including 2,3,7,8-tetrachlorodibenzo-p-dioxin and planar chlorobiphenyls. 54 61
8638948 1996
55
Uroporphyrinogen decarboxylase: complete human gene sequence and molecular study of three families with hepatoerythropoietic porphyria. 54 61
8644733 1996
56
Excretion pattern of faecal coproporphyrin isomers I-IV in human porphyrias. 54 61
8845420 1995
57
[delta-Aminolevulinate dehydratase deficiency]. 54 61
7616655 1995
58
delta-Aminolevulinic acid dehydratase deficiency porphyria (ADP) with syndrome of inappropriate secretion of antidiuretic hormone (SIADH) in a 69-year-old woman. 54 61
7490911 1995
59
Molecular abnormalities of coproporphyrinogen oxidase in patients with hereditary coproporphyria. 54 61
7592568 1995
60
A mutation (G281E) of the human uroporphyrinogen decarboxylase gene causes both hepatoerythropoietic porphyria and overt familial porphyria cutanea tarda: biochemical and genetic studies on Spanish patients. 54 61
7706766 1995
61
[Hepato-erythropoietic porphyria]. 54 61
8745689 1995
62
Molecular defects of uroporphyrinogen decarboxylase in a patient with mild hepatoerythropoietic porphyria. 54 61
8176248 1994
63
Hepatoerythropoietic porphyria precipitated by viral hepatitis. 54 61
7902313 1993
64
Composition of urinary coproporphyrin isomers I-IV in human porphyrias. 54 61
8292661 1993
65
Evidence for involvement of a second genetic locus on chromosome 11q in porphyrin metabolism. 54 61
8340112 1993
66
[Enzymatic and molecular studies in a case of hepato-erythropoietic porphyria. Homozygote form of type familial cutaneous porphyria]. 54 61
1363904 1992
67
Characterization of a new mutation (R292G) and a deletion at the human uroporphyrinogen decarboxylase locus in two patients with hepatoerythropoietic porphyria. 54 61
1634232 1992
68
Cloning and expression of the defective genes from a patient with delta-aminolevulinate dehydratase porphyria. 54 61
1569184 1992
69
Frequency of low erythrocyte porphobilinogen deaminase activity in Finland. 54 61
1588264 1992
70
Cloning and expression of the defective genes in delta-aminolevulinate dehydratase porphyria: compound heterozygosity in this hereditary liver disease. 54 61
1309003 1992
71
delta-Aminolevulinate dehydratase deficient porphyria: identification of the molecular lesions in a severely affected homozygote. 54 61
2063868 1991
72
Identification of a new mutation responsible for hepatoerythropoietic porphyria. 54 61
1905636 1991
73
Molecular regulation of 5-aminolevulinate synthase. Diseases related to heme biosynthesis. 54 61
2095458 1990
74
Uroporphyrinogen decarboxylase deficiency in hepatoerythropoietic porphyria: further evidence for genetic heterogeneity. 54 61
2322500 1990
75
A Pharmacological Chaperone Therapy for Acute Intermittent Porphyria. 61
31810863 2020
76
Givosiran: First Approval. 61
32034693 2020
77
Acute Neuromuscular Disorders in the Pediatric Intensive Care Unit. 61
31502491 2020
78
Pharmacokinetics and Pharmacodynamics of the Small Interfering Ribonucleic Acid (siRNA), Givosiran, in Patients with Acute Hepatic Porphyria. 61
31994716 2020
79
Paediatric porphyria and human hemin: a treatment challenge in a lower middle income country. 61
31919062 2020
80
Comment on "Rhodococcus equi Pneumonia in Kidney Transplant Recipient Affected by Acute Intermittent Porphyria: A Case Report". 61
31911054 2020
81
Real world annualized healthcare utilization and expenditures among insured US patients with acute intermittent porphyria (AIP) treated with hemin. 61
31999204 2020
82
Acquired erythropoietic protoporphyria: A systematic review of the literature. 61
31374130 2020
83
Mild iron deficiency does not ameliorate the phenotype of a murine erythropoietic protoporphyria model. 61
31990410 2020
84
Phlebotomy as an efficient long-term treatment of congenital erythropoietic porphyria. 61
31919078 2020
85
Epidemiology of cutaneous porphyria in Israel: a nationwide cohort study. 61
31264284 2020
86
Porphobilinogen synthase: An equilibrium of different assemblies in human health. 61
31952692 2020
87
Acute Intermittent Porphyria - an Unexpected Association in a Patient with Newly Diagnosed Crohn's Disease. 61
31826059 2019
88
A Diagnostic Conundrum: Acute Intermittent Porphyria Coexisting with Lumbar Prolapsed Intervertebral Disc. 61
31839107 2019
89
Leading RNA Interference Therapeutics Part 2: Silencing Delta-Aminolevulinic Acid Synthase 1, with a Focus on Givosiran. 61
31792921 2019
90
Bone Marrow Transplantation in Congenital Erythropoietic Porphyria: Sustained Efficacy but Unexpected Liver Dysfunction. 61
31843562 2019
91
Genetic background influences hepcidin response to iron imbalance in a mouse model of hemolytic anemia (Congenital erythropoietic porphyria). 61
31601421 2019
92
Successful evolution of morphea after hepatitis C virus eradication with direct-acting antiviral agent treatment. 61
31696725 2019
93
Patients with porphyria bask in sunlight of FDA approval. 61
31796929 2019
94
Molecular analysis of 19 Spanish patients with mixed porphyrias. 61
30476629 2019
95
Acute porphyrias: a German monocentric study of the biochemical, molecular genetic, and clinical data of 62 families. 61
31745600 2019
96
Neurological and neuropsychiatric manifestations of porphyria. 61
31402774 2019
97
Systemic lupus erythematosus and hydroxychloroquine-related acute intermittent porphyria. 61
31865445 2019
98
Acute Intermittent Porphyria: A rare cause of hyponatraemia. 61
31901925 2019
99
A Case of Acute Intermittent Porphyria Mimicking Guillain-Barré Syndrome. 61
31903042 2019
100
Characterization of the hepatic transcriptome following phenobarbital induction in mice with AIP. 61
30777612 2019
101
Porphyria cutanea tarda: Recent update. 61
30683557 2019
102
Evaluating the Patient-Reported Outcomes Measurement Information System scales in acute intermittent porphyria. 61
31690837 2019
103
Computational disease model of phenobarbital-induced acute attacks in an acute intermittent porphyria mouse model. 61
30639045 2019
104
Sex differences in vascular reactivity in mesenteric arteries from a mouse model of acute intermittent porphyria. 61
30639047 2019
105
Lifestyle factors including diet and biochemical biomarkers in acute intermittent porphyria: Results from a case-control study in northern Norway. 61
30583995 2019
106
Association between hepatitis C virus and porphyria cutanea tarda. 61
31097365 2019
107
Porphyria cutanea tarda and hepatoerythropoietic porphyria: Identification of 19 novel uroporphyrinogen III decarboxylase mutations. 61
30514647 2019
108
Management of Patients With Erythropoietic Protoporphyria-Related Progressive Liver Disease. 61
31469227 2019
109
Results of a pilot study of isoniazid in patients with erythropoietic protoporphyria. 61
31395332 2019
110
Congenital erythropoietic porphyria and erythropoietic protoporphyria: Identification of 7 uroporphyrinogen III synthase and 20 ferrochelatase novel mutations. 61
30454868 2019
111
Glycogen branching enzyme controls cellular iron homeostasis via Iron Regulatory Protein 1 and mitoNEET. 61
31784520 2019
112
Congenital erythropoietic porphyria: Recent advances. 61
30685241 2019
113
Acute Intermittent Porphyria & Anti-tuberculosis Therapy. 61
31693148 2019
114
Melanonychia striata: clarifying behind the Black Curtain. A review on clinical evaluation and management of the 21st century. 61
31006857 2019
115
Acute hepatic porphyrias: Identification of 46 hydroxymethylbilane synthase, 11 coproporphyrinogen oxidase, and 20 protoporphyrinogen oxidase novel mutations. 61
30385147 2019
116
Recent advances on porphyria genetics: Inheritance, penetrance & molecular heterogeneity, including new modifying/causative genes. 61
30594473 2019
117
Pathogenesis and clinical features of the acute hepatic porphyrias (AHPs). 61
30987916 2019
118
Porphyria-induced posterior reversible encephalopathy syndrome and central nervous system dysfunction. 61
31706631 2019
119
Heme biosynthesis and the porphyrias. 61
31326287 2019
120
Murine models of the human porphyrias: Contributions toward understanding disease pathogenesis and the development of new therapies. 61
30737139 2019
121
Pilot study of mitochondrial bioenergetics in subjects with acute porphyrias. 61
31153822 2019
122
International Porphyria Molecular Diagnostic Collaborative: an evidence-based database of verified pathogenic and benign variants for the porphyrias. 61
31073229 2019
123
Hepatocellular carcinoma in acute hepatic porphyrias: A Damocles Sword. 61
30413387 2019
124
Acute hepatic porphyrias: Current diagnosis & management. 61
31311713 2019
125
Strong correlation of ferrochelatase enzymatic activity with Mitoferrin-1 mRNA in lymphoblasts of patients with protoporphyria. 61
30391163 2019
126
A New Era for Rare Genetic Diseases: Messenger RNA Therapy. 61
31179759 2019
127
Unusual combination of Shwachman-Diamond syndrome and porphyria. 61
31621276 2019
128
Ocular manifestations in patient with congenital erythropoietic porphyria. 61
31546559 2019
129
Reversible encephalopathy syndrome in acute porphyria attack. 61
30871823 2019
130
Inherited Neuropathies. 61
31639845 2019
131
Acute Intermittent Porphyria: Novel Etiologic and Pathogenic Therapies Based on RNA Transfer to the Liver. 61
31026336 2019
132
A first report of porphyria cutanea tarda successfully treated with glycyrrhizin. 61
31269308 2019
133
Porphyria Cutanea Tarda Improvement With Elbasvir/Grazoprevir in End-Stage Renal Disease. 61
30099101 2019
134
Efficacy and Safety of Glecaprevir/pibrentasvir in a Patient With HCV-Induced Porphyria Cutanea Tarda Receiving Vedolizumab for Crohn´s Disease. 61
31602458 2019
135
Prospective randomized controlled trial comparing treatment efficacy and tolerance of picosecond alexandrite laser with a diffractive lens array and triple combination cream in female asian patients with melasma. 61
31494973 2019
136
EXPLORE: A Prospective, Multinational, Natural History Study of Patients with Acute Hepatic Porphyria with Recurrent Attacks. 61
31512765 2019
137
A next-generation-sequencing panel for mutational analysis of dominant acute hepatic porphyrias. 61
31154864 2019
138
Axonal Polyneuropathy in a Man Treated for Pulmonary Cocci: A Case of Acute Intermittent Porphyria. 61
31530795 2019
139
Grover's Disease in a Kidney Transplant Recipient. 61
31542066 2019
140
Acute intermittent porphyria: analgesia can be dangerous. 61
31570358 2019
141
Porphyrias: A clinically based approach. 61
31257150 2019
142
Clinical Guide and Update on Porphyrias. 61
31085196 2019
143
Experience in management of porphyria cutanea tarda in a tertiary referral Brazilian hospital from 2002 to 2017. 61
30773624 2019
144
Corrigendum to "Porphyria: A rare differential diagnosis of polyradiculoneuropathy". Journal of the Neurological Sciences. Volume 402, 15 July 2019, Pages 153-155. 61
31230764 2019
145
Molecular genetic study of acute intermittent porphyria in Russia: HMBS gene mutation spectrum and problem of penetrance. 61
31044425 2019
146
Porphyria: An Uncommon Cause of Posterior Reversible Encephalopathy Syndrome. 61
31649773 2019
147
Messenger RNA therapy for rare genetic metabolic diseases. 61
30796097 2019
148
Increased mortality in patients with porphyria cutanea tarda-A nationwide cohort study. 61
31374307 2019
149
Congenital erythropoietic porphyria with erythrodontia: A case report. 61
30706587 2019
150
[Syndromes with skin fragility]. 61
31197392 2019
151
Do We Utilize Our Knowledge of the Skin Protective Effects of Carotenoids Enough? 61
31370257 2019
152
Porphyria: A rare differential diagnosis of polyradiculoneuropathy. 61
31151066 2019
153
[Clinical characteristics of 50 patients with acute intermittent porphyria]. 61
31269569 2019
154
Homozygous hydroxymethylbilane synthase knock-in mice provide pathogenic insights into the severe neurological impairments present in human homozygous dominant acute intermittent porphyria. 61
30615115 2019
155
The effects of sustained virological response to direct-acting anti-viral therapy on the risk of extrahepatic manifestations of hepatitis C infection. 61
30932218 2019
156
Feasibility of cellular bioenergetics as a biomarker in porphyria patients. 61
30740306 2019
157
Porphyria Misdiagnosed as Schizophrenia Nonresponsive to Electroconvulsive Therapy. 61
30628991 2019
158
Congenital Erythropoietic Porphyria: A Rare Case of Photosensitivity with Hemolytic Anaemia and Mental Retardation. 61
31142411 2019
159
European Association for the Study of the Liver The International Liver Congress 2019. 61
31160873 2019
160
Harderoporphyria: Case of lifelong photosensitivity associated with compound heterozygous coproporphyrinogen oxidase (CPOX) mutations. 61
30828546 2019
161
Response to Porphyria: The Neglected Diagnosis. 61
31280519 2019
162
Recurrence of Acute Intermittent Porphyria After Liver Transplantation. 61
30716770 2019
163
Benefits of prophylactic heme therapy in severe acute intermittent porphyria. 61
30733921 2019
164
Recurrent posterior reversible encephalopathy syndrome in a patient with acute intermittent porphyria. 61
31153599 2019
165
Porphyria Cutanea Tarda-Like Lesions in a Child With a Hepatic Disease. 61
31107794 2019
166
A 56-year-old male with porphyria cutanea tarda. 61
30882549 2019
167
Improvement of porphyria cutanea tarda following treatment of hepatitis C virus by direct-acting antivirals: A case report. 61
30506825 2019
168
Animal models of NAFLD from the pathologist's point of view. 61
29746920 2019
169
Anaesthetic concerns in the patients with congenital erythropoietic porphyria for ocular surgery. 61
30388602 2019
170
Interactions of acetamide and acrylamide with heme models: Synthesis, infrared spectra, and solid state molecular structures of five- and six-coordinate ferric porphyrin derivatives. 61
30856456 2019
171
Safe usage of bicalutamide and goserelin in a male patient with acute intermittent porphyria and prostate cancer. 61
30714461 2019
172
Porphyria Cutanea Tarda Presenting as Erythema-multiforme Like Lesions. 61
31110391 2019
173
Porphyria: The Neglected Diagnosis. 61
31032573 2019
174
[A case report of variegate porphyria maenisfeseting as phototoxicity]. 61
30917427 2019
175
Porphyria: A Rare, Complicated, and Misdiagnosed Disease. 61
30807344 2019
176
Genetic neuromuscular disorders: living the era of a therapeutic revolution. Part 1: peripheral neuropathies. 61
30847674 2019
177
Porphyria cutanea tarda increases risk of hepatocellular carcinoma and premature death: a nationwide cohort study. 61
30944007 2019
178
Porphyria Attack Manifesting as Delayed Emergence and Precipitated by Prolonged Cardiopulmonary Bypass: A Case Report of 2 Novel Observations. 61
30312175 2019
179
Use HFR-supra for porphyria cutanea tarda treatment in hemodialysis patient. 61
30528547 2019
180
Blistering Disease During the Treatment of Chronic Hepatitis C With Ledipasvir/Sofosbuvir. 61
30983856 2019
181
CRISPR-Cas9 genome editing induces megabase-scale chromosomal truncations. 61
30850590 2019
182
Multinodular fatty change in the liver in three patients with chronic hepatic porphyria: Contribution of sonography to the diagnosis. 61
30378127 2019
183
[Acute abdominal pain caused by lead poisoning]. 61
30864538 2019
184
Loss of Wnt Secretion by Macrophages Promotes Hepatobiliary Injury after Administration of 3,5-Diethoxycarbonyl-1, 4-Dihydrocollidine Diet. 61
30610845 2019
185
High penetrance of acute intermittent porphyria in a Spanish founder mutation population and CYP2D6 genotype as a susceptibility factor. 61
30808393 2019
186
Diagnosis of erythropoietic protoporphyria with severe liver injury: A case report. 61
30809087 2019
187
[Recognize rare diseases on the skin]. 61
30631893 2019
188
[The cutaneous porphyrias]. 61
30709634 2019
189
Acute Hepatic Porphyrias: Review and Recent Progress. 61
30766957 2019
190
Phase 1 Trial of an RNA Interference Therapy for Acute Intermittent Porphyria. 61
30726693 2019
191
Rhodococcus equi Pneumonia in Kidney Transplant Recipient Affected by Acute Intermittent Porphyria: A Case Report. 61
30661897 2019
192
Identification and characterization of 40 novel hydroxymethylbilane synthase mutations that cause acute intermittent porphyria. 61
30740734 2019
193
Enrichment of pathogenic variants in genes associated with inborn errors of metabolism in psychiatric populations. 61
30556376 2019
194
Desensitization in patients with hypersensitivity to haem arginate: A case report. 61
30937127 2019
195
Novel Deleterious Sequence Change in the NLRP12 Gene in a Child with the Autoinflammatory Syndrome, Joint Hypermobility and Cutis Laxa from India. 61
30858956 2019
196
Systemic Administered mRNA as Therapy for Metabolic Diseases. 61
30528119 2019
197
Nonconvulsive status epilepticus secondary to acute porphyria crisis. 61
30671344 2019
198
Porphyria cutanea tarda: a case report. 61
30661508 2019
199
Unsafe Deposits: Overlapping Cutaneous Manifestations of Porphyria Cutanea Tarda, Ochronosis, Hemochromatosis, and Argyria. 61
31496470 2019
200
Direct Immunofluorescence of Mechanobullous Epidermolysis Bullosa Acquisita, Porphyria Cutanea Tarda and Pseudoporphyria. 61
30176039 2019
201
The first Japanese case of familial porphyria cutanea tarda diagnosed by a UROD mutation. 61
30522880 2019
202
Total Corneal Melt in Patient with Porphyria Cutanea Tarda in Presence of Another Risk Factor. 61
29370566 2019
203
Porphyria Cutanea Tarda Associated With Acute Hemorrhagic Pancreatitis. 61
31155958 2019
204
Molecular expression, characterization and mechanism of ALAS2 gain-of-function mutants. 61
30678654 2019
205
Iron Hack - A symposium/hackathon focused on porphyrias, Friedreich's ataxia, and other rare iron-related diseases. 61
31824661 2019
206
The molecular basis of transient heme-protein interactions: analysis, concept and implementation. 61
30622148 2019
207
Porphyrin-Induced Protein Oxidation and Aggregation as a Mechanism of Porphyria-Associated Cell Injury. 61
31233899 2019
208
Loss of hepatocyte β-catenin protects mice from experimental porphyria-associated liver injury. 61
30287339 2019
209
[A rare case of neurological manifestations of acute intermittent porphyria]. 61
30778035 2019
210
Systematically Analyzing the Pathogenic Variations for Acute Intermittent Porphyria. 61
31572191 2019
211
Acute Intermittent Porphyria: Current Perspectives And Case Presentation. 61
31908464 2019
212
Acute Intermittent Porphyria: A Report of 3 Cases with Neuropathy. 61
31205461 2019
213
Oxygen and Conformation Dependent Protein Oxidation and Aggregation by Porphyrins in Hepatocytes and Light-Exposed Cells. 61
31173894 2019
214
Photoonycholysis: new findings. 61
29953667 2019
215
Effect of 5-aminolevulinic acid on the expression of carcinogenesis-related proteins in cultured primary hepatocytes. 61
30218352 2018
216
Systemic messenger RNA as an etiological treatment for acute intermittent porphyria. 61
30297912 2018
217
Perioperative Challenges in Liver Transplantation for a Patient With Acute Intermittent Porphyria. 61
29306617 2018
218
Relapse of porphyria cutanea tarda after treatment with phlebotomy or 4-aminoquinoline antimalarials: a meta-analysis. 61
29750336 2018
219
A new UROD mutation in childhood porphyria cutanea tarda after allogeneic stem cell transplantation for β-thalassemia major. 61
30094935 2018
220
[Porphyrias-what is verified?] 61
30328490 2018
221
Bioengineered PBGD variant improves the therapeutic index of gene therapy vectors for acute intermittent porphyria. 61
30085095 2018
222
Molecular characterization, by digital PCR analysis of four HMBS gene mutations affecting the ubiquitous isoform of Porphobilinogen Deaminase (PBGD) in patients with Acute Intermittent Porphyria (AIP). 61
30201327 2018
223
Porphyrias and photosensitivity: pathophysiology for the clinician. 61
30296862 2018
224
[Porphyria - when to think about how to clarify and treat?] 61
30468116 2018
225
Does Schizoaffective Disorder explain the mental illnesses of Robert Schumann and Vincent Van Gogh? 61
30439846 2018
226
Correction to: Medical and financial burden of acute intermittent porphyria. 61
30054762 2018
227
Porphyria: often discussed but too often missed. 61
29540448 2018
228
Patient Perspective on Acute Intermittent Porphyria with Frequent Attacks: A Disease with Intermittent and Chronic Manifestations. 61
29915990 2018
229
Psychiatric Disorders Secondary to Neurometabolic Disorders. 61
30286847 2018
230
Scleritis in congenital erythropoietic porphyria - infective or inflammatory? 61
30249837 2018
231
Structural basis of pyrrole polymerization in human porphobilinogen deaminase. 61
29908816 2018
232
A novel 55-basepair deletion of hydroxymethylbilane synthase gene found in a Chinese patient with acute intermittent porphyria and her family: A case report. 61
30212967 2018
233
SLC40A1 and CP single nucleotide polymorphisms in porphyria cutanea tarda patients of mixed ancestry. 61
29774528 2018
234
Non-familial porphyria cutanea tarda: a case report of a rare disease. 61
30229639 2018
235
Repurposing ciclopirox as a pharmacological chaperone in a model of congenital erythropoietic porphyria. 61
30232228 2018
236
Novel mutation of PPOX gene in a patient with abdominal pain and syndrome of inappropriate antidiuresis. 61
29516370 2018
237
Posterior Reversible Encephalopathy Syndrome in a Patient with Variegate Porphyria: A Case Report. 61
30483456 2018
238
Acute intermittent porphyria presenting with seizures and posterior reversible encephalopathy syndrome: Two case reports and a literature review. 61
30200061 2018
239
A case of hereditary coproporphyria with posterior reversible encephalopathy and novel coproporphyrinogen oxidase gene mutation c.863T>G (p.Leu288Trp). 61
29660996 2018
240
Medical and financial burden of acute intermittent porphyria. 61
29675607 2018
241
Many pitfalls in diagnosis of acute intermittent porphyria: a case report. 61
30071891 2018
242
[Sclerodermatous changes revealing porphyria cutanea tarda]. 61
29804804 2018
243
Acquired erythropoietic uroporphyria secondary to myelodysplastic syndrome with chromosome 3 alterations: a case report. 61
28865079 2018
244
[Porphyria cutanea tarda. Case report]. 61
30534876 2018
245
Diagnosing diabetes mellitus in patients with porphyria cutanea tarda. 61
29516487 2018
246
The devil's in the dosing: severe drug-induced liver injury in a hydroxychloroquine-naive patient with subacute cutaneous lupus erythematosus and porphyria cutanea tarda. 61
29631513 2018
247
Furosemide-induced pseudoporphyria in a patient with chronic kidney disease: case report. 61
30010691 2018
248
The association between chemical-induced porphyria and hepatic cancer. 61
30090612 2018
249
Acute Intermittent Porphyria: A Rare Cause of Acute Disseminated Encephalomyelitis. 61
30237948 2018
250
Acute Intermittent Porphyria Presented with Acute Intestinal Pseudo-obstruction. 61
30148113 2018
251
Recurrent attacks of acute hepatic porphyria: major role of the chronic inflammatory response in the liver. 61
29498764 2018
252
Acute intermittent porphyria: general aspects with focus on pain. 61
29383964 2018
253
Effects of volatile anaesthetics on heme metabolism in a murine genetic model of Acute Intermittent Porphyria. A comparative study with other porphyrinogenic drugs. 61
29476795 2018
254
Sugammadex and amino acid infusion can contribute to safe anesthetic management of variegate porphyria. 61
32026031 2018
255
Perioperative Anesthetic Management of Patients Having Liver Transplantation for Uncommon Conditions. 61
28922972 2018
256
Porphyria Cutanea Tarda Presenting with Scleroderma, Ichthyosis, Alopecia, and Vitiligo. 61
29928199 2018
257
Porphyria cutanea tarda presenting as milia and blisters. 61
29789288 2018
258
Rapid spectrophotometric quantification of urinary porphyrins and porphobilinogen as screening tool for attacks of acute porphyria. 61
29855177 2018
259
Porphyria and kidney diseases. 61
29644058 2018
260
Human hydroxymethylbilane synthase: Molecular dynamics of the pyrrole chain elongation identifies step-specific residues that cause AIP. 61
29632172 2018
261
Validation and evaluation of two porphobilinogen deaminase activity assays for diagnosis of acute intermittent porphyria. 61
29317194 2018
262
An Inducible Promoter Responsive to Different Porphyrinogenic Stimuli Improves Gene Therapy Vectors for Acute Intermittent Porphyria. 61
28990424 2018
263
Erythropoietic Protoporphyria: Initial Diagnosis With Cholestatic Liver Disease. 61
29610169 2018
264
[Congenital erythropoietic porphyria: case report and management recommendations]. 61
29557620 2018
265
From a dominant to an oligogenic model of inheritance with environmental modifiers in acute intermittent porphyria. 61
29360981 2018
266
Porphyria: What Is It and Who Should Be Evaluated? 61
29553924 2018
267
The effect of sustained virological response on the risk of extrahepatic manifestations of hepatitis C virus infection. 61
28634198 2018
268
Porphyria cutanea tarda in a patient with hepatitis C. 61
28416230 2018
269
Prevention of photosensitivity with action spectrum adjusted protection for erythropoietic protoporphyria. 61
29266358 2018
270
Psychiatric Aspects of Acute Porphyria: a Comprehensive Review. 61
29392446 2018
271
Is liver transplantation for intractable attacks of porphyria a viable treatment in a developing country? 61
29140538 2018
272
Correction to: Urinary metabolic profiling of asymptomatic acute intermittent porphyria using a rule-mining-based algorithm. 61
30830333 2018
273
Urinary metabolic profiling of asymptomatic acute intermittent porphyria using a rule-mining-based algorithm. 61
29416446 2018
274
Acute Primary Adrenal Insufficiency after Hip Replacement in a Patient with Acute Intermittent Porphyria. 61
29515921 2018
275
[CME: Acute Intermittent Porphyria: When to Think of It? What Must be Checked? How to Treat?] 61
29382268 2018
276
Acute Intermittent Porphyria in the North of China: The Acute Attack Effect on Quality of Life and Psychological Condition. 61
29862261 2018
277
Genetic ancestry of patients with porphyria cutanea tarda in a country with mixed races: a cross-sectional study (Rio de Janeiro - Brazil). 61
29641722 2018
278
Whole Exome Sequencing Identified a Novel Heterozygous Mutation in HMBS Gene in a Chinese Patient With Acute Intermittent Porphyria With Rare Type of Mild Anemia. 61
29731767 2018
279
[Altered orientation and aggressiveness in an 89-year-old woman]. 61
28653147 2018
280
Pseudo porphyria or porphyria cutanea tarda? 61
29791431 2018
281
Brain perfusion defects by SPET/CT and neurostat semi-quantitative analysis in two patients with congenital erythropoietic porphyria. 61
29705816 2018
282
Delayed photosensitivity in a child with erythropoietic protoporphyria : a case report. 61
29854403 2018
283
Bullosis Diabeticorum: A Rare Presentation with Immunoglobulin G (IgG) Deposition Related Vasculopathy. Case Report and Focused Review. 61
29332930 2018
284
Role of Vitamin C in Skin Diseases. 61
30022952 2018
285
A rare case of acute intermittent porphyria with ichthyosis vulgaris in a young boy. 61
29915773 2018
286
Hepatitis C virus core protein triggers abnormal porphyrin metabolism in human hepatocellular carcinoma cells. 61
29856826 2018
287
Antiepileptic Drugs and Liver Disease. 61
29097018 2017
288
Treatment of acute intermittent porphyria during pregnancy and posterior reversible encephalopathy syndrome after delivery: A case report. 61
29285091 2017
289
Cutaneous Manifestations of Scleroderma and Scleroderma-Like Disorders: a Comprehensive Review. 61
28712039 2017
290
Novel heterozygous mutation of protoporphyrinogen oxidase gene in a Chinese patient with variegate porphyria. 61
28733981 2017
291
Diagnosis and Treatment of Acute Intermittent Porphyria. 61
29338831 2017
292
Hexachlorobenzene as a persistent organic pollutant: Toxicity and molecular mechanism of action. 61
29128804 2017
293
Direct-acting antivirals for hepatitis C virus induce a rapid clinical and biochemical remission of porphyria cutanea tarda. 61
28369802 2017
294
Porphyria. 61
29166231 2017
295
Porphyria. 61
29182251 2017
296
Porphyria. 61
29182253 2017
297
ABCB6, an ABC Transporter Impacting Drug Response and Disease. 61
29192381 2017
298
Disappearance of multiple hyperechoic liver nodules in sporadic porphyria cutanea tarda after treatment with ledipasvir/sofosbuvir for hepatitis C. 61
28884440 2017
299
Clinical characteristic of psychiatric symptoms in Acute Intermittent Porphyria (AIP): A report of a pair of identical twins. 61
28704787 2017
300
Resolution of porphyria cutanea tarda in HIV and mixed HCV coinfection after direct-acting antiviral (DAA) therapy. 61
29091216 2017
301
Radiation and chemotherapy with no excessive toxicity in a patient with human papillomavirus-related tonsillar cancer and porphyria cutanea tarda: Case report and literature review. 61
28815861 2017
302
[Porphyria cutanea tarda as extrahepatic manifestation of chronic hepatitis C: a case report]. 61
29459814 2017
303
Acute hepatic porphyrias: Recommendations for evaluation and long-term management. 61
28605040 2017
304
[Gonadotropin-releasing hormone agonist to treat acute intermittent porphyria: a case report]. 61
28870041 2017
305
Porphyria Cutanea Tarda as the Initial Manifestation of Subclinical Hereditary Hemochromatosis. 61
28479501 2017
306
Neonatal hemolytic anemia does not always indicate thalassemia: a case report. 61
28899405 2017
307
Cerebral vasospasm in acute porphyria. 61
28695690 2017
308
[Epidemiology and risk factors of hepatocellular carcinoma]. 61
28987047 2017
309
Acute hepatic porphyria and cancer risk: a nationwide cohort study. 61
28730628 2017
310
Acute pancreatitis due to an attack of acute intermittent porphyria. 61
28984284 2017
311
Comprehensive analysis of the tryptophan metabolome in urine of patients with acute intermittent porphyria. 61
28666226 2017
312
Sporadic Porphyria Cutanea Tarda Induced by Alcohol Abuse. 61
28776562 2017
313
Psychiatric symptoms associated with porphyria: A case report and brief review. 61
28738101 2017
314
The Impact of Whole-Genome Sequencing on the Primary Care and Outcomes of Healthy Adult Patients: A Pilot Randomized Trial. 61
28654958 2017
315
Dermatologic Manifestations of Chronic Hepatitis C Infection. 61
28689593 2017
316
Hepatitis C virus and its cutaneous manifestations: treatment in the direct-acting antiviral era. 61
28252812 2017
317
Porphyria. 61
28854095 2017
318
Clinical, Biochemical Characteristics and Hospital Outcome of Acute Intermittent Porphyria Patients: A Descriptive Study from North India. 61
28904459 2017
319
Hepatitis C Viral Infection and Porphyria Cutanea Tarda. 61
28755733 2017
320
A case of porphyria cutanea tarda of the liver exhibiting multifocal macrovesicular steatosis in the background of microvesicular steatosis, probably caused by uneven iron accumulation. 61
28130583 2017
321
An Unusual Cause of Headache and Fatigue in a Division 1 Collegiate Athlete. 61
28653968 2017
322
Acute intermittent porphyria presenting as posterior reversible encephalopathy syndrome with hyperperfusion in bilateral occipital lobes: A case report. 61
28477706 2017
323
Effects of hemin and hemodialysis in a patient with acute intermittent porphyria and renal failure. 61
29296735 2017
324
Molecular characterisation of acute intermittent porphyria in a cohort of South African patients and kinetic analysis of two expressed mutants. 61
27849156 2017
325
Hepatitis C Treatment in Patients With Porphyria Cutanea Tarda. 61
28641714 2017
326
Porphyria cutanea tarda: an intriguing genetic disease and marker. 61
28321838 2017
327
A Variant of Peptide Transporter 2 Predicts the Severity of Porphyria-Associated Kidney Disease. 61
28031405 2017
328
Intermediate filament proteins of digestive organs: physiology and pathophysiology. 61
28360031 2017
329
A Comprehensive Rehabilitation Program and Follow-up Assessment for Acute Intermittent Porphyria. 61
27584135 2017
330
Anti-HCV for porphyria cutanea tarda. 61
28133909 2017
331
Squamous cell carcinoma of the penis successfully treated with imiquimod 5% cream in a porphyria cutanea tarda patient. 61
27767238 2017
332
Case Report of Patient With Erythropoietic Protoporphyria and Basal Cell Carcinoma Diagnoses. 61
27837157 2017
333
Sporadic Porphyria in a patient with stage II melanoma treated with interferon α. 61
28464763 2017
334
Bullous, pseudobullous, & pustular dermatoses. 61
28108048 2017
335
Acute hepatic and erythropoietic porphyrias: from ALA synthases 1 and 2 to new molecular bases and treatments. 61
28118224 2017
336
Can curative antivirals benefit porphyria cutanea tarda in hepatitis C patients? 61
27550066 2017
337
sQuiz your knowledge: Expanding scarring alopecia in a patient with porphyria cutanea tarda. 61
28400347 2017
338
Missense UROS mutations causing congenital erythropoietic porphyria reduce UROS homeostasis that can be rescued by proteasome inhibition. 61
28334762 2017
339
Pure motor axonal neuropathy triggered by antituberculous therapy in an undiagnosed case of acute intermittent porphyria. 61
28348263 2017
340
Reversible MRI findings in a case of acute intermittent porphyria with a novel mutation in the porphobilinogen deaminase gene. 61
28011390 2017
341
Performing therapeutic venesection in a doctor's surgery. 61
28260267 2017
342
Best practice guidelines on first-line laboratory testing for porphyria. 61
27555665 2017
343
Acute intermittent porphyria: a test of clinical acumen. 61
28638573 2017
344
Systemic inflammation in acute intermittent porphyria: a case-control study. 61
27859020 2017
345
Development of bullous pemphigoid during the haemodialysis of a young man: case report and literature survey. 61
27748034 2017
346
Hemolytic anemia repressed hepcidin level without hepatocyte iron overload: lesson from Günther disease model. 61
28143953 2017
347
Congenital erythropoietic porphyria (Gunther disease) - long-term follow up of a case and review. 61
28329491 2017
348
Update review of the acute porphyrias. 61
27982422 2017
349
Letter re: Acute intermittent porphyria-related leukoencephalopathy. 61
28193753 2017
350
Author response: Acute intermittent porphyria-related leukoencephalopathy. 61
28193754 2017
351
Neurological and Neuropsychological Problems in Tyrosinemia Type I Patients. 61
28755189 2017
352
Acute Intermittent Porphyria Presenting with Posterior Reversible Encephalopathy Syndrome, Accompanied by Prolonged Vasoconstriction. 61
28321076 2017
353
Porphyria Cutanea Tarda in a Patient with End-Stage Renal Disease: A Case of Successful Treatment with Deferoxamine and Ferric Carboxymaltose. 61
28210512 2017
354
Photosensitive disorders in HIV. 61
29568622 2017
355
Hereditary Tyrosinemia Type 1 in Turkey. 61
28755194 2017
356
Lead Poisoning Can Be Easily Misdiagnosed as Acute Porphyria and Nonspecific Abdominal Pain. 61
28630774 2017
357
Acute intermittent porphyria after right hemi-colectomy. 61
28988019 2017
358
An overview of the cutaneous porphyrias. 61
29152226 2017
359
An Audit of the Use of Gonadorelin Analogues to Prevent Recurrent Acute Symptoms in Patients with Acute Porphyria in the United Kingdom. 61
28220410 2017
360
Liver Cancer in Tyrosinemia Type 1. 61
28755188 2017
361
Neonatal-Onset Hereditary Coproporphyria: A New Variant of Hereditary Coproporphyria. 61
28349448 2017
362
Effect of Menstrual Cycle on Acute Intermittent Porphyria. 61
29094055 2017
363
Targeting the Nrf2-Heme Oxygenase-1 Axis after Intracerebral Hemorrhage. 61
27799046 2017
364
Acute Intermittent Porphyria in children: A case report and review of the literature. 61
27769855 2016
365
Resolution of Porphyria Cutanea Tarda in Patients With Hepatitis C Following Ledipasvir-Sofosbuvir Combination Therapy. 61
27732687 2016
366
Late-onset cutaneous porphyria in a patient heterozygous for a uroporphyrinogen III synthase gene mutation. 61
27086902 2016
367
Congenital erythropoietic porphyria: mild presentation with late onset associated with a mutation in the UROS gene promoter sequence. 61
27859603 2016
368
[Medical induced abortion]. 61
27818118 2016
369
Elective cholecystectomy performed on patient with variegate porphyria-Propofol-based total intravenous anesthesia with target-controlled infusion. 61
27871506 2016
370
Novel Treatment Using Cimetidine for Erythropoietic Protoporphyria in Children. 61
27410690 2016
371
Acute Intermittent Porphyria: Predicted Pathogenicity of HMBS Variants Indicates Extremely Low Penetrance of the Autosomal Dominant Disease. 61
27539938 2016
372
Corrigendum to "Seven novel genetic mutations within the 5' UTR and the housekeeping promoter of HMBS gene responsible for the non-erythroid form of acute intermittent porphyria" [Blood Cells Mol. Dis. 49 (2012) 147-151]. 61
27693411 2016
373
Acute Porphyria Presenting as Major Trauma: Case Report and Literature Review. 61
27624508 2016
374
Experiences and concerns of patients with recurrent attacks of acute hepatic porphyria: A qualitative study. 61
27595545 2016
375
What hematologists need to know about acute hepatic porphyria. 61
27930636 2016
376
Hepatic porphyria: A narrative review. 61
27796941 2016
377
Cutaneous Porphyrias: Causes, Symptoms, Treatments and the Danish Incidence 1989-2013. 61
27139922 2016
378
Reflectance confocal microscopy in the diagnosis of vesicobullous disorders: case series with pathologic and cytologic correlation and literature review. 61
27259839 2016
379
Emerging therapies for acute intermittent porphyria. 61
27804912 2016
380
Acute intermittent porphyria precipitated by atazanavir/ritonavir. 61
26872826 2016
381
The Remarkable Character of Porphobilinogen Synthase. 61
27783504 2016
382
AAV-mediated liver-directed gene therapy for Acute Intermittent Porphyria: It is safe but is it effective? 61
27422751 2016
383
Porphyria Cutanea Tarda. 61
27669078 2016
384
A Commonly Missed Well Known Entity- Acute Intermittent Porphyria: A Case Report. 61
27891417 2016
385
Phase I open label liver-directed gene therapy clinical trial for acute intermittent porphyria. 61
27212246 2016
386
Neuroimaging abnormalities in a patient with posterior reversible encephalopathy syndrome due to acute intermittent porphyria. 61
25735834 2016
387
The assessment of noncoding variant of PPOX gene in variegate porphyria reveals post-transcriptional role of the 5' untranslated exon 1. 61
27667166 2016
388
Radiopharmaceuticals in Acute Porphyria. 61
27568214 2016
389
[The attack of acute porphyria]. 61
27622758 2016
390
Porphyria and Vampirism-A Myth, Sensationalized. 61
27627037 2016
391
Acute intermittent porphyria-related leukoencephalopathy. 61
27558376 2016
392
Erratum: Acute intermittent porphyria: A critical diagnosis for favourable outcome. 61
27688637 2016
393
[Cimetidine in the treatment of recurrent acute intermittent porphyria: a case report]. 61
27480563 2016
394
Femoral and sciatic nerve block for knee arthroscopy in a patient with acute intermittent porphyria. 61
27220836 2016
395
Nephrogenic syndrome of inappropriate antidiuresis secondary to an activating mutation in the arginine vasopressin receptor AVPR2. 61
26715131 2016
396
Pleiotropic effects of 5-aminolevulinic acid in mouse brain. 61
27472495 2016
397
The severity of hereditary porphyria is modulated by the porphyrin exporter and Lan antigen ABCB6. 61
27507172 2016
398
Challenges in the successful management of a case of acute intermittent porphyria in India. 61
26472549 2016
399
Porphyria cutanea tarda in a HIV- positive patient. 61
27579753 2016
400
Congenital Erythropoietic Porphyria with Undescended Testis. 61
27512208 2016
401
A case of erythropoietic protoporphyria. 61
27365882 2016
402
Acute intermittent porphyria: A critical diagnosis for favorable outcome. 61
27555700 2016
403
Acute variegate porphyria presenting with reversible cerebral vasoconstriction. 61
27186968 2016
404
Acute intermittent porphyria leading to posterior reversible encephalopathy syndrome (PRES): a rare cause of abdominal pain and seizures. 61
27277587 2016
405
Recombinant AAV Integration Is Not Associated With Hepatic Genotoxicity in Nonhuman Primates and Patients. 61
26948440 2016
406
Illness Perception and Psychological Distress in Persons with Porphyria Cutanea Tarda. 61
26775575 2016
407
Safe use of perampanel in a carrier of variegate porphyria. 61
26837372 2016
408
Acute Intermittent Porphyria: A Diagnostic Challenge. 61
27617074 2016
409
Extrahepatic Manifestations of Hepatitis C: A Meta-analysis of Prevalence, Quality of Life, and Economic Burden. 61
26924097 2016
410
Posterior reversible encephalopathy syndrome revealing acute intermittent porphyria. 61
27371133 2016
411
Porphyric neuropathies in an acute intermittent porphyria family. 61
26582343 2016
412
Involvement of Mouse Constitutive Androstane Receptor in Acifluorfen-Induced Liver Injury and Subsequent Tumor Development. 61
26928356 2016
413
[HIV infection and porphyria cutanea tarda, report of a case]. 61
26723942 2016
414
Human Immunodeficiency Virus Associated Sporadic Nonfamilial Porphyria Cutanea Tarda. 61
27293254 2016
415
Advances in understanding the pathogenesis of congenital erythropoietic porphyria. 61
26969896 2016
416
A precursor-inducible zebrafish model of acute protoporphyria with hepatic protein aggregation and multiorganelle stress. 61
26839379 2016
417
Photosensitization in Porphyrias and Photodynamic Therapy Involves TRPA1 and TRPV1. 61
27170124 2016
418
Glucose metabolism during fasting is altered in experimental porphobilinogen deaminase deficiency. 61
26908609 2016
419
[Influence of long-term treatment with hemin in the development of chronic renal failure in acute intermittent porphyria]. 61
26723937 2016
420
Electrocardiogram in a patient with "acute intermittent porphyria"-triggered Takotsubo syndrome. 61
26896614 2016
421
Anesthetic implication of tricuspid valve replacement in a patient with acute intermittent porphyria. 61
27052088 2016
422
Acute intermittent porphyria exacerbation following in vitro fertilization treatment. 61
27125415 2016
423
Porphyria cutanea tarda in a child with acute lymphoblastic leukemia. 61
26319705 2016
424
Human immunodeficiency virus and risk of porphyria cutanea tarda: a possible association examined in a large hospital. 61
26576928 2016
425
[Congenital erythropoietic porphyria : An update]. 61
26631056 2016
426
[Porphyria cutanea tara]. 61
26743054 2016
427
Clinical, Biochemical and Molecular Characteristics of the Main Types of Porphyria. 61
27627571 2016
428
[Treatment by bloodletting in the past and present]. 61
27483574 2016
429
Takotsubo syndrome triggered by acute intermittent porphyria attack: An unusual stressor for catecholamine-induced cardiomyopathy. 61
26788817 2016
430
[Neurocutaneous porphyrias]. 61
26743053 2016
431
[Porphyrias and haem related disorders]. 61
26774916 2016
432
[Diagnosis of the porphyrias : From A (as in aminolevulinic acid) to Z (as in zinc protoporphyrin)]. 61
26743052 2016
433
[Acute intermittent porphyria in a paediatric population in the region of Murcia: Phenotype and prevalence]. 61
26497633 2016
434
Constitutive active/androstane receptor, peroxisome proliferator-activated receptor α, and cytotoxicity are involved in oxadiazon-induced liver tumor development in mice. 61
26710982 2016
435
[Plasma and salivary markers of oxidative and carbonyl stress in patients with acute intermittent porphyria]. 61
28124928 2016
436
The D519G Polymorphism of Glyceronephosphate O-Acyltransferase Is a Risk Factor for Familial Porphyria Cutanea Tarda. 61
27661980 2016
437
Acute intermittent porphyria presenting with posterior reversible encephalopathy syndrome and lateralized periodic discharges plus fast activity on EEG. 61
27660746 2016
438
Liver Fibrosis Associated with Iron Accumulation Due to Long-Term Heme-Arginate Treatment in Acute Intermittent Porphyria: A Case Series. 61
26093628 2016
439
Methotrexate and actinomycin D chemotherapy in a patient with porphyria: a case report. 61
26781485 2016
440
The Impact of Gonadal Hormones on the Expression of Human Neurological Disorders. 61
26335277 2016
441
Clinical and Laboratory Features of Acute Porphyria: A Study of 36 Subjects in a Chinese Tertiary Referral Center. 61
28025645 2016
442
Porphyria cutanea tarda associated with HFE C282Y homozygosity, iron overload, and use of a contraceptive vaginal ring. 61
26908385 2016
443
[Porphyria cutanea tarda: the benefit of additional diagnostics]. 61
26840933 2016
444
Skin diseases associated with Agent Orange and other organochlorine exposures. 61
26210237 2016
445
Clinical applications of therapeutic phlebotomy. 61
27486346 2016
446
Bullous Skin Lesions in a Patient with End-Stage Renal Disease and Hepatitis C. 61
28988591 2016
447
Incomplete erythropoietic protoporphyria caused by a splice site modulator homozygous IVS3-48C polymorphism in the ferrochelatase gene. 61
26280465 2016
448
Transient Worsening of Photosensitivity due to Cholelithiasis in a Variegate Porphyria Patient. 61
27746433 2016
449
A Case of Congenital Erythropoietic Porphyria without Haemolysis. 61
30755899 2016
450
A Rare Case of Puberty Onset Congenital Erythropoietic Porphyria with Ophthalmological Manifestations. 61
26957860 2016
451
Porphyria or Catatonia: Diagnostic Dilemma on the Medical Wards. 61
27027143 2016
452
Melatonin modulates drug-induced acute porphyria. 61
28959532 2016
453
Cerebral Hypoperfusion in Hereditary Coproporphyria (HCP): A Single Photon Emission Computed Tomography (SPECT) Study. 61
26680773 2016
454
X-chromosomal inactivation directly influences the phenotypic manifestation of X-linked protoporphyria. 61
25615817 2016
455
Haem Biosynthesis and Antioxidant Enzymes in Circulating Cells of Acute Intermittent Porphyria Patients. 61
27788171 2016
456
Cyclic vomiting syndrome versus inborn errors of metabolism: A review with clinical recommendations. 61
26678622 2016
457
Forkhead containing transcription factor Albino controls tetrapyrrole-based body pigmentation in planarian. 61
27551436 2016
458
Acute intermittent porphyria: comorbidity and shared familial risks with schizophrenia and bipolar disorder in Sweden. 61
26494868 2015
459
A metabolomic perspective of griseofulvin-induced liver injury in mice. 61
26343413 2015
460
Characterisation of the flavin adenine dinucleotide binding region of Myxococcus xanthus protoporphyrinogen oxidase. 61
29124218 2015
461
Helper-dependent adenovirus achieve more efficient and persistent liver transgene expression in non-human primates under immunosuppression. 61
26125605 2015
462
Preclinical Development of a Subcutaneous ALAS1 RNAi Therapeutic for Treatment of Hepatic Porphyrias Using Circulating RNA Quantification. 61
26528940 2015
463
Severe porphyric neuropathy--importance of screening for porphyria in Guillain-Barré syndrome. 61
26792303 2015
464
Increase in nonhepatic diagnoses among persons with hepatitis C hospitalized for any cause, United States, 2004-2011. 61
25894392 2015
465
Successful hematopoietic stem cell transplantation in a child with congenital erythropoietic porphyria due to a mutation in GATA-1. 61
26392207 2015
466
Guillain Barré Syndrome, Systemic Lupus Erythematosus and Acute Intermittent Porphyria – A Deadly Trio. 61
29900713 2015
467
Cutaneous manifestations of hepatitis C in the era of new antiviral agents. 61
26644817 2015
468
Demyelinating neuropathy in genetically confirmed acute intermittent porphyria. 61
26095755 2015
469
Acute intermittent porphyria: a missed diagnosis in pre-pubertal children with recurrent abdominal pain. 61
27509706 2015
470
Congenital Erythropoietic Porphyria With Calcific Constrictive Pericarditis: A Case Report and Brief Review of Literature. 61
26467880 2015
471
[Acute intermittent porphyria: Long-term follow up of 35 patients]. 61
25194977 2015
472
Mitochondrial energetic defects in muscle and brain of a Hmbs-/- mouse model of acute intermittent porphyria. 61
26071363 2015
473
Vitamin D-binding protein as a biomarker of active disease in acute intermittent porphyria. 61
25979770 2015
474
Sclerodermiform porphyria cutanea tarda after torasemide. 61
26693635 2015
475
Drug induced pseudoporphyria in CKD: A case report. 61
26628799 2015
476
Scleral necrosis in congenital erythropoietic porphyria: A case report and review of the literature. 61
26903733 2015
477
Porphyrias: A 2015 update. 61
26142871 2015
478
Ambient Light Promotes Selective Subcellular Proteotoxicity after Endogenous and Exogenous Porphyrinogenic Stress. 61
26205816 2015
479
[Treatable neurometabolic diseases. Association with schizophrenia spectrum disorders]. 61
26248708 2015
480
Acute Porphyrias. 61
26159905 2015
481
[VISIBLE LIGHT AND HUMAN SKIN (REVIEW)]. 61
26355315 2015
482
A novel mutation, IVS2-2AgG, associated with acute intermittent porphyria in a Chinese family. 61
26228342 2015
483
High prevalence of and potential mechanisms for chronic kidney disease in patients with acute intermittent porphyria. 61
25830761 2015
484
Abdominal pain and syndrome of inappropriate antidiuretic hormone secretion as clinical presentation of acute intermittent porphyria. 61
25796467 2015
485
Porphyria: Pathophysiology, diagnosis, and treatment. 61
26180905 2015
486
Posterior reversible encephalopathy syndrome as a rare presenting feature of acute intermittent porphyria. 61
26238901 2015
487
Anthropometric and Quality-of-Life Parameters in Acute Intermittent Porphyria Patients. 61
26222840 2015
488
A novel mutation in the porphobilinogen deaminase gene in an extended Chinese family with acute intermittent porphyria. 61
25870942 2015
489
Novel A219P mutation of hydroxymethylbilane synthase identified in a Chinese woman with acute intermittent porphyria and syndrome of inappropriate antidiuretic hormone. 61
25787008 2015
490
Mass spectrometric characterisation of a condensation product between porphobilinogen and indolyl-3-acryloylglycine in urine of patients with acute intermittent porphyria. 61
26349648 2015
491
[INTENSIVE CARE OF COMPLICATED ACUTE PORPHYRIA]. 61
26596031 2015
492
Inducing iron deficiency improves erythropoiesis and photosensitivity in congenital erythropoietic porphyria. 61
25972160 2015
493
Porphyria Diagnostics-Part 1: A Brief Overview of the Porphyrias. 61
26132003 2015
494
Acute intermittent porphyria symptoms during the menstrual cycle. 61
25871503 2015
495
Acute intermittent porphyria: Diagnostic dilemma and treatment options. 61
26330726 2015
496
Acute Intermittent Porphyria: A Diagnostic Challenge for Endocrinologist. 61
26168842 2015
497
Diffuse Hepatic FDG Activity From Nonmalignant Etiologies. 61
25674876 2015
498
Liver Transplantation for Acute Intermittent Porphyria: Biochemical and Pathologic Studies of the Explanted Liver. 61
26062020 2015
499
Sclerodermoid lesions in a patient with multiple transplants and porphyria cutanea tarda. 61
26158360 2015
500
Recognition and Differential Diagnosis of Psychosis in Primary Care. 61
26131945 2015
501
Phototoxicity, Pseudoporphyria, and Photo-onycholysis Due to Voriconazole in a Pediatric Patient With Leukemia and Invasive Aspergillosis. 61
26407422 2015
502
Dermatologic Extrahepatic Manifestations of Hepatitis C. 61
26357639 2015
503
Congenital erythropoietic porphyria linked to GATA1-R216W mutation: challenges for diagnosis. 61
25251786 2015
504
Long-term observational study of afamelanotide in 115 patients with erythropoietic protoporphyria. 61
25494545 2015
505
Bone marrow transplant for X-linked protoporphyria with severe hepatic fibrosis. 61
25856424 2015
506
Hydroxymethylbilane synthase gene mutations and polymorphisms in Brazilian families with acute intermittent porphyria. 61
25703257 2015
507
Porphyria Cutanea Tarda Masquerading as Epidermolysis Bullosa Acquisita: A Report of Two Cases. 61
26269702 2015
508
Acute porphyria precipitated by efavirenz. 61
25909830 2015
509
Hepatocellular carcinoma in variegate porphyria: a case report and literature review. 61
25301776 2015
510
Regional Variation in Analytical Techniques used in the Diagnosis and Monitoring of Porphyria: a Case for Harmonisation? 61
26224896 2015
511
A 17-year-old girl with chronic intermittent abdominal pain. Acute intermittent porphyria. 61
25875978 2015
512
[Medicine-caused itch, wounds and bullous skin in three patients with pseudoporphyria]. 61
25922166 2015
513
FitzPatrick Lecture: King George III and the porphyria myth - causes, consequences and re-evaluation of his mental illness with computer diagnostics. 61
25824070 2015
514
Identification of mutations in the uroporphyrinogen III synthase gene in a Thai girl patient with congenital erythropoietic porphyria. 61
25092523 2015
515
Acute intermittent porphyria. 61
25948918 2015
516
A case of acute intermittent porphyria. 61
26007278 2015
517
R173W mutation of hydroxymethylbilane synthetase is associated with acute intermittent porphyria complicated with rhabdomyolysis: the first report. 61
25389600 2015
518
Clinical presentation and electrophysiological findings of porphyric neuropathies: a follow-up study. 61
24985076 2015
519
A case of hypopituitarism and porphyria cutanea tarda in relation to estrogen therapy in a patient with empty sella syndrome. 61
25572312 2015
520
Acute Hepatic Porphyria. 61
26357631 2015
521
Biallelic inactivation of protoporphyrinogen oxidase and hydroxymethylbilane synthase is associated with liver cancer in acute porphyrias. 61
25445397 2015
522
Role of delta-aminolevulinic acid in the symptoms of acute porphyria. 61
25446301 2015
523
Pseudoporphyria following self-medication with chlorophyll. 61
25123581 2015
524
[Clinical review of pseudoporphyria]. 61
25650579 2015
525
[Update on the biology of heme synthesis in erythroid cells]. 61
25765790 2015
526
Acute porphyria in a patient with Arnold Chiari malformation. 61
25697467 2015
527
Cutaneous manifestations of viral hepatitis. 61
25809574 2015
528
Cytochrome P450 expression in mouse brain: specific isoenzymes involved in Phase I metabolizing system of porphyrinogenic agents in both microsomes and mitochondria. 61
25386744 2015
529
The neuropsychiatric ailment of Vincent Van Gogh. 61
25745302 2015
530
THINK PORPHYRIA: CASE REPORT AND REVIEW OF LITERATURE. 61
26817125 2015
531
Anesthesia for hemicolectomy in a known porphyric with cecal malignancy. 61
25558204 2015
532
Porphobilinogen deaminase gene mutations in Polish patients with non-erythroid acute intermittent porphyria. 61
25923088 2015
533
A skin disease, a blood disease or something in between? An exploratory focus group study of patients' experiences with porphyria cutanea tarda. 61
24958197 2015
534
A Novel Mutation in the FECH Gene in a Czech Family with Erythropoietic Protoporphyria and a Population Study of IVS3-48C Variant Contributing to the Disease. 61
26789144 2015
535
Butafenacil: A positive control for identifying anemia- and variegate porphyria-inducing chemicals. 61
28962437 2015
536
Characterization of variegate porphyria mutations using a minigene approach. 61
25638459 2015
537
Haplotype Study in Argentinean Variegate Porphyria Patients. 61
27216491 2015
538
Hepatoerythropoietic Porphyria Caused by a Novel Homoallelic Mutation in Uroporphyrinogen Decarboxylase Gene in Egyptian Patients. 61
26789143 2015
539
Hem12, an enzyme of heme biosynthesis pathway, is monoubiquitinated by Rsp5 ubiquitin ligase in yeast cells. 61
26317124 2015
540
Emergency contraceptive pill safety profile. Comparison of the results of a follow-up study to those coming from spontaneous reporting. 61
25408302 2015
541
Clinuvel's tanning agent nears approval for porphyria. 61
25574616 2015
542
Audit of the Use of Regular Haem Arginate Infusions in Patients with Acute Porphyria to Prevent Recurrent Symptoms. 61
25762493 2015
543
Acute intermittent porphyria in Argentina: an update. 61
26075277 2015
544
An update of clinical management of acute intermittent porphyria. 61
26366103 2015
545
Occurrence of Malignant Tumours in the Acute Hepatic Porphyrias. 61
25701268 2015
546
Porphyria and anorexia: cause and effect. 61
25988062 2014
547
Treatment of chronic hepatitis with boceprevir leads to remission of porphyria cutanea tarda. 61
25154788 2014
548
[Wood's lamp in congenital erythropoietic porphyria]. 61
24525168 2014
549
Acute porphyrias in the USA: features of 108 subjects from porphyrias consortium. 61
25016127 2014
550
Lead poisoning mimicking acute porphyria! 61
25653942 2014
551
Pro-oxidant effect of ALA is implicated in mitochondrial dysfunction of HepG2 cells. 61
25220386 2014
552
Tuning intracellular homeostasis of human uroporphyrinogen III synthase by enzyme engineering at a single hotspot of congenital erythropoietic porphyria. 61
24925316 2014
553
Clinically important features of porphyrin and heme metabolism and the porphyrias. 61
25372274 2014
554
Computational identification of pathogenic associated nsSNPs and its structural impact in UROD gene: a molecular dynamics approach. 61
24777812 2014
555
Drugs and acute porphyrias: reasons for a hazardous relationship. 61
25387219 2014
556
N-alkylprotoporphyrin formation and hepatic porphyria in dogs after administration of a new antiepileptic drug candidate: mechanism and species specificity. 61
24973095 2014
557
[State of dementia due to intermittent acute porphyria: a case report]. 61
23993340 2014
558
A case of teriparatide-induced severe hypophosphatemia and hypercalcemia. 61
24553859 2014
559
Prevalence and clinical features of acute intermittent porphyria: a retrospective analysis. 61
25243696 2014
560
Severe neurologic manifestations in acute intermittent porphyria developed after spine surgery under general anesthesia: a case report. 61
25302100 2014
561
[Scleromalacia in congenital erythropoietic porphyria: a case report]. 61
25012974 2014
562
[Anaesthetics and porphyria]. 61
25294203 2014
563
Liver transplantation in the management of porphyria. 61
24700519 2014
564
Posterior reversible encephalopathy syndrome in acute intermittent porphyria. 61
25035140 2014
565
Role of therapeutic apheresis and phlebotomy techniques in anaesthesia and critical care. 61
25535434 2014
566
Congenital erythropoietic porphyria: a case in which symptoms were precipitated by an unrelated anaemia. 61
24601890 2014
567
Successful administration of sugammadex in a patient with acute porphyria: A case report. 61
24992602 2014
568
Sporadic porphyria cutanea tarda: treatment with chloroquine decreases hyperglycemia and reduces development of metabolic syndrome. 61
24630799 2014
569
Acute Flaccid paralysis in adults: Our experience. 61
25114422 2014
570
Cascade testing of primary care blood samples with hyperferritinaemia identifies subjects with iron overload and porphyria cutanea tarda. 61
24081184 2014
571
Heme acts through the Bach1b/Nrf2a-MafK pathway to regulate exocrine peptidase precursor genes in porphyric zebrafish. 61
24652768 2014
572
The cutaneous porphyrias. 61
24891059 2014
573
Porphyria cutanea tarda and Sjogren's syndrome. 61
25054769 2014
574
Phototoxic dermatoses in pediatric BMT patients receiving voriconazole. 61
24619922 2014
575
A challenging diagnosis for potential fatal diseases: recommendations for diagnosing acute porphyrias. 61
24809927 2014
576
Ultrasound-guided regional anesthesia in a pediatric patient with acute intermittent porphyria: literature review and case report. 61
25137868 2014
577
Augmenting PBGD expression in the liver as a novel gene therapy for acute intermittent porphyria (AIPgene). 61
24933563 2014
578
Acute intermittent porphyria causes hepatic mitochondrial energetic failure in a mouse model. 61
24727425 2014
579
Secondary cutaneous marginal zone B-cell lymphoma presenting as lipoatrophy in a patient with hepatitis C. 61
25024777 2014
580
Challenge of liver disease in systemic lupus erythematosus: Clues for diagnosis and hints for pathogenesis. 61
25018850 2014
581
Dermatological manifestations of hepatitis C virus infection in Saudi Arabia. 61
24888650 2014
582
[Hereditary porphyrias and heme related disorders]. 61
26983187 2014
583
Sudden bilateral reversible vision loss: a rare presentation of acute intermittent porphyria. 61
25438495 2014
584
RNAi-mediated silencing of hepatic Alas1 effectively prevents and treats the induced acute attacks in acute intermittent porphyria mice. 61
24821812 2014
585
Ocular manifestations in porphyria cutanea tarda. 61
24811555 2014
586
Pseudoxanthoma elasticum-like skin lesions with congenital erythropoietic porphyria. 61
25091813 2014
587
NADPH oxidase enzymes in skin fibrosis: molecular targets and therapeutic agents. 61
24155025 2014
588
Treatment of acute intermittent porphyria in the emergency department. 61
24439243 2014
589
Autophagic and proteolytic processes in the Harderian gland are modulated during the estrous cycle. 61
24310659 2014
590
From metabolism to psychiatric symptoms: psychosis as a manifestation of acute intermittent porphyria. 61
24763782 2014
591
Adrenal hormonal imbalance in acute intermittent porphyria patients: results of a case control study. 61
24735931 2014
592
Acute intermittent porphyria presenting as progressive muscular atrophy in a young black man. 61
25118551 2014
593
Porphyrias in Norway. 61
24780981 2014
594
[Porphyria cutanea tarda with sclerodermatous changes and hemochromatosis]. 61
24718503 2014
595
Porphyria cutanea tarda in a child following multi-agent chemotherapy. 61
24719070 2014
596
Diagnostic and treatment implications of psychosis secondary to treatable metabolic disorders in adults: a systematic review. 61
24775716 2014
597
Diclofenac-induced pseudoporphyria; an under-recognized condition? 61
24635077 2014
598
Iron regulatory protein-1 protects against mitoferrin-1-deficient porphyria. 61
24509859 2014
599
Development of corticobasal syndrome in a patient with congenital erythropoietic porphyria. 61
24388147 2014
600
Tyrosinemia type I: clinical and biochemical analysis of patients in Mexico. 61
24552869 2014
601
Lamotrigine in the treatment of psychotic depression associated with hereditary coproporphyria -- case report and a brief review of the literature. 61
24687017 2014
602
Vincent van Gogh: a pathographic analysis. 61
24332561 2014
603
Urinary metabolic fingerprint of acute intermittent porphyria analyzed by (1)H NMR spectroscopy. 61
24437734 2014
604
Brothers with congenital erythropoietic porphyria. 61
24485140 2014
605
Pseudoporphyria induced by hemodialysis. 61
24683400 2014
606
Clinical and forensic signs related to ethanol abuse: a mechanistic approach. 61
24274640 2014
607
Images in emergency medicine. Acute intermittent porphyria. 61
24438652 2014
608
Acute intermittent porphyria caused by novel mutation in HMBS gene, misdiagnosed as cholecystitis. 61
25419136 2014
609
Hepatocyte transplantation ameliorates the metabolic abnormality in a mouse model of acute intermittent porphyria. 61
23582197 2014
610
Psychiatric manifestations of treatable hereditary metabolic disorders in adults. 61
25478001 2014
611
[Tetraplegia, resuscitation and epileptic seizures after partial colon resection in a 41-year-old woman]. 61
24399476 2014
612
Hepatitis C- and HIV-induced porphyria cutanea tarda. 61
24470839 2014
613
Desferrioxamine treatment of porphyria cutanea tarda in a patient with HIV and chronic renal failure. 61
24502304 2014
614
Allogeneic corneoscleral limbus tissue transplantation for treatment of the necrosis in porphyria eye disease. 61
25161952 2014
615
Separation and fragmentation study of isocoproporphyrin derivatives by UHPLC-ESI-exact mass MS/MS and identification of a new isocoproporphyrin sulfonic acid metabolite. 61
24446266 2014
616
X-linked dominant protoporphyria: a new porphyria. 61
24131146 2014
617
Cutaneous deposits. 61
23249837 2014
618
Identification of a novel UROS mutation in a Chinese patient affected by congenital erythropoietic porphyria. 61
23953398 2014
619
Clinicopathological characteristics of xeroderma pigmentosum associated with keratoacanthoma: a case report and literature review. 61
25419376 2014
620
Feigning acute intermittent porphyria. 61
25525547 2014
621
Porphyria cutanea tarda in a human immunodeficiency virus-infected patient: A rare scenario in India. 61
24958988 2014
622
Porphyria and its neurologic manifestations. 61
24365356 2014
623
Seven Novel Mutations in Bulgarian Patients with Acute Hepatic Porphyrias (AHP). 61
24997713 2014
624
Urinary excretion of porphyrins, porphobilinogen and δ-aminolaevulinic acid following an attack of acute intermittent porphyria. 61
23908454 2014
625
Premature calcifications of costal cartilages: a new perspective. 61
25587444 2014
626
Soren Kierkegaard (1813-55): a bicentennial pathographical review. 61
24573750 2013
627
Acute intermittent porphyria in pregnancy: a case report and review of literature. 61
25154161 2013
628
Diagnosis of feline acute intermittent porphyria presenting with erythrodontia requires molecular analyses. 61
24239138 2013
629
Safety and liver transduction efficacy of rAAV5-cohPBGD in nonhuman primates: a potential therapy for acute intermittent porphyria. 61
24070415 2013
630
Variegate porphyria complicated by systemic AA amyloidosis: a case report. 61
24131077 2013
631
The enzyme engineering of mutant homodimer and heterodimer of coproporphyinogen oxidase contributes to new insight into hereditary coproporphyria and harderoporphyria. 61
24078084 2013
632
Cutaneous porphyrias part I: epidemiology, pathogenesis, presentation, diagnosis, and histopathology. 61
24261722 2013
633
Spectrophotometric quantification of total urinary porphyrins as a screening test for porphyrias: threshold value revisited. 61
24028902 2013
634
Leukocytoclastic vasculitis masking chronic vascular changes in previously undiagnosed erythropoietic protoporphyria. 61
24102632 2013
635
Therapeutic potential of proteasome inhibitors in congenital erythropoietic porphyria. 61
24145442 2013
636
High risk of primary liver cancer in a cohort of 179 patients with Acute Hepatic Porphyria. 61
23344888 2013
637
Challenges in the diagnosis and treatment of a case of acute intermittent porphyria in India. 61
24346403 2013
638
[Sclerodermatous changes in porphyria cutanea tarda: six cases]. 61
24090888 2013
639
Images in clinical medicine. Porphyria cutanea tarda and hypertrichosis. 61
24088095 2013
640
Manifestations and treatment of the hand in adult congenital erythropoietic porphyria. 61
24048109 2013
641
Extrahepatic manifestations of hepatitis C virus (HCV). 61
28839734 2013
642
Homozygous variegate porphyria presenting with developmental and language delay in childhood. 61
24073655 2013
643
Hepatoerythropoietic Porphyria 61
24175354 2013
644
Biochemical and hematological analysis in acute intermittent porphyria (AIP): a case report. 61
24068100 2013
645
A Case of Congenital Erythropoietic Porphyria without Hemolysis. 61
24082206 2013
646
Congenital Erythropoietic Porphyria 61
24027798 2013
647
[Hereditary coproporphyria from clinician's point of view--a case report]. 61
24245452 2013
648
The incidence of inherited porphyrias in Europe. 61
23114748 2013
649
Metabolic pancreatitis: Etiopathogenesis and management. 61
24083160 2013
650
Treatment of neuropathic pain in acute intermittent porphyria with gabapentin. 61
23735466 2013
651
A novel G168X mutation and a recurrent 730-731delCT mutation of the porphobilinogen deaminase gene in Japanese patients with acute intermittent porphyria. 61
23582379 2013
652
Scleroderma-like hands in a 16-year-old boy. Congenital erythropoetic porphyria (CEP). 61
23740176 2013
653
Conformational stability and activity analysis of two hydroxymethylbilane synthase mutants, K132N and V215E, with different phenotypic association with acute intermittent porphyria. 61
23815679 2013
654
On the repair of oxidative damage to apoferritin: a model study with the flavonoids quercetin and rutin in aerated and deaerated solutions. 61
23560676 2013
655
The neuropsychiatry of inborn errors of metabolism. 61
23700255 2013
656
Sporadic Porphyria Cutanea Tarda in a Patient with Multiple Sclerosis Treated with Interferon Beta 1-a Therapy: A Case Report. 61
23894244 2013
657
Challenges in the diagnosis and treatment of a case of acute intermittent porphyria in India. 61
24029211 2013
658
Pseudoexon activation in the HMBS gene as a cause of the nonerythroid form of acute intermittent porphyria. 61
23609978 2013
659
Helper-dependent adenoviral liver gene therapy protects against induced attacks and corrects protein folding stress in acute intermittent porphyria mice. 61
23562909 2013
660
Dermacase. Can you identify this condition? Porphyria cutanea tarda. 61
23851543 2013
661
Successful treatment of congenital erythropoietic porphyria using matched unrelated hematopoietic stem cell transplantation. 61
23557135 2013
662
Sun, iron, alcohol and intrinsic liver disease: a recipe for failure. 61
23821633 2013
663
Antioxidants restore protoporphyrinogen oxidase in variegate porphyria patients. 61
23601071 2013
664
Lamin aggregation is an early sensor of porphyria-induced liver injury. 61
23641075 2013
665
Recurrent porphyria attacks in a Chinese patient with a heterozygous PBGD mutation. 61
23639962 2013
666
Pathology in practice. Congenital porphyria in a kitten. 61
23822077 2013
667
Precipitating factors of porphyria cutanea tarda in Brazil with emphasis on hemochromatosis gene (HFE) mutations. Study of 60 patients. 61
24068123 2013
668
Circadian rhythms in acute intermittent porphyria--a pilot study. 61
23650938 2013
669
Gas chromatography-mass spectrometry profiling of steroids in urine of patients with acute intermittent porphyria. 61
23499585 2013
670
Porphyria cutanea tarda in a hemodialysis patient. 61
22753666 2013
671
[Differential diagnosis and treatment of hyponatremia]. 61
23808743 2013
672
Familial Porphyria Cutanea Tarda 61
23741761 2013
673
Familial porphyria cutanea tarda in Spain: characterization of eight novel mutations in the UROD gene and haplotype analysis of the common p.G281E mutation. 61
23545314 2013
674
'Struensee's memoir on the situation of the King' (1772): Christian VII of Denmark. 61
24573261 2013
675
Porphyria cutanea tarda and spherocytosis: a non-random association? 61
23093332 2013
676
Report of a novel Indian case of congenital erythropoietic porphyria and overview of therapeutic options. 61
23612387 2013
677
Porphyria: varied ocular manifestations and management. 61
23704443 2013
678
[Extrahepatic manifestations of chronic hepatitis C and their influence on response to treatment with pegylated interferon alfa-2a and ribavirin]. 61
23858800 2013
679
Acute porphyria presenting as epilepsia partialis continua. 61
23898283 2013
680
Co-existence of hereditary coproporphyria and porphyria cutanea tarda: The importance of genetic testing. 61
23582006 2013
681
Best practice guidelines on clinical management of acute attacks of porphyria and their complications. 61
23605132 2013
682
Role of genetic testing in the management of patients with inherited porphyria and their families. 61
23605133 2013
683
Is non-alcoholic steatohepatitis a predisposing factor to porphyria cutanea tarda? 61
23458397 2013
684
Anaesthetic management of an obstetric patient with variegate porphyria. 61
23473551 2013
685
Quantitative structural insight into human variegate porphyria disease. 61
23467411 2013
686
New developments in erythropoietic porphyrias. 61
22766189 2013
687
Neuropathic pain in hereditary coproporphyria. 61
24353603 2013
688
An odd case of heteroallelic acute intermittent porphyria in the Argentinean population. 61
23522335 2013
689
Bullous skin reaction seen after extravasation of calcium gluconate. 61
22830330 2013
690
Bullous skin lesions in a jaundiced infant after phototherapy: a case of congenital erythropoietic porphyria. 61
24192686 2013
691
Molecular expression and characterization of erythroid-specific 5-aminolevulinate synthase gain-of-function mutations causing X-linked protoporphyria. 61
23348515 2013
692
Emergency management of acute abdomen in children. 61
23456644 2013
693
Boston keratoprosthesis for visual rehabilitation in porphyria cutanea tarda. 61
23378551 2013
694
Iron homeostasis in porphyria cutanea tarda: mutation analysis of promoter regions of CP, CYBRD1, HAMP and SLC40A1. 61
23012398 2013
695
Peripheral polyneuropathy and female sexual dysfunction--familial amyloidotic polyneuropathy as an example besides diabetes mellitus. 61
23217031 2013
696
Variegate Porphyria 61
23409300 2013
697
Alterations of the redox state, pentose pathway and glutathione metabolism in an acute porphyria model. Their impact on heme pathway. 61
23390166 2013
698
Porphyria cutanea tarda in a hemodialysis patient with hepatitis C virus: efficacy of treatment with multiple phlebotomies and erythropoietin. 61
23354206 2013
699
Risk factors for porphyria cutanea tarda -the iron/HFE connection. 61
23121614 2013
700
Increased serum hepcidin levels in patients with porphyria cutanea tarda. 61
22429447 2013
701
Congenital Erythropoietic Porphyria: Mutation of the Uroporphyrinogen III Cosynthase Gene in a Vietnamese Patient. 61
23626549 2013
702
Peripheral intrahepatic cholangiocarcinoma occurring in patients without cirrhosis or chronic bile duct diseases: epidemiology and histopathology of distant nontumoral liver in 57 White patients. 61
23085575 2013
703
Ketogenic diet: an early option for epilepsy treatment, instead of a last choice only. 61
23515149 2013
704
Metabolic neuropathies and myopathies. 61
23622366 2013
705
Computer-based diagnosis of illness in historical persons. 61
23734360 2013
706
Topical effects of N-acetyl-L-hydroxyproline on ceramide synthesis and alleviation of pruritus. 61
23430142 2013
707
Pseudoporphyria associated with nonhemodialyzed renal insufficiency, successfully treated with oral N-acetylcysteine. 61
23662216 2013
708
[Pregnancy and labor problems in patients with acute porphyria]. 61
24437218 2013
709
Partial protoporphyrinogen oxidase (PPOX) gene deletions, due to different Alu-mediated mechanisms, identified by MLPA analysis in patients with variegate porphyria. 61
23324528 2013
710
Hereditary Coproporphyria Associated with the Q306X Mutation in the Coproporphyrin Oxidase Gene Presenting with Acute Ataxia. 61
24156084 2013
711
Diagnosing the dead: the retrospective analysis of genetic diseases. 61
23516684 2013
712
Clinical manifestations and diagnostic challenges in acute porphyrias. 61
23476835 2013
713
Porphyrin and heme metabolism and the porphyrias. 61
23720291 2013
714
[The porphyrin metabolism in liver cirrhosis]. 61
23536946 2013
715
Environmental contaminants perturb fragile protein assemblies and inhibit normal protein function. 61
25045409 2013
716
Women with acute intermittent porphyria have a defect in 5α-steroid production during the menstrual cycle. 61
22924787 2012
717
Porphyria cutanea tarda: treatment options revisited. 61
22982098 2012
718
HAART: a risk factor for development of porphyria cutanea tarda? 61
23295885 2012
719
Low-dose hydroxychloroquine is as effective as phlebotomy in treatment of patients with porphyria cutanea tarda. 61
22985607 2012
720
Establishing a network of specialist Porphyria centres - effects on diagnostic activities and services. 61
23227998 2012
721
Increased photosensitivity? Case report of porphyria cutanea tarda associated with systemic lupus erythematosus. 61
23223706 2012
722
Cerebral vasospasm and anterior circulation stroke secondary to an exacerbation of hereditary corproporphyria. 61
23144304 2012
723
Hereditary Coproporphyria 61
23236641 2012
724
Porphyria cutanea tarda in an HCV-positive liver transplant patient: a case report. 61
23109461 2012
725
Porphyria cutanea tarda in the Basque Country: significance of HFE gene mutations and of external factors. 61
22680055 2012
726
The porphyrias: advances in diagnosis and treatment. 61
22791288 2012
727
Review of hepatocellular cancer, hypertension and renal impairment as late complications of acute porphyria and recommendations for patient follow-up. 61
22851509 2012
728
Seven novel genetic mutations within the 5'UTR and the housekeeping promoter of HMBS gene responsible for the non-erythroid form of acute intermittent porphyria. 61
22748422 2012
729
Congenital erythropoietic porphyria: bringing evidence-based practice to a rare disease. 61
23013311 2012
730
A case report of porphyria variegata management in the emergency department. 61
20417053 2012
731
Congenital erythropoietic porphyria: a single-observer clinical study of 29 cases. 61
22816431 2012
732
A management algorithm for congenital erythropoietic porphyria derived from a study of 29 cases. 61
22804244 2012
733
[The laboratory diagnostics of disorders of porphyrin metabolism: a lecture]. 61
23265055 2012
734
Acute intermittent porphyria presenting solely with psychosis: a case report and discussion. 61
22902088 2012
735
Non-classical congenital adrenal hyperplasia in association with porphyria cutanea tarda: co-incidence or trigger? 61
22783026 2012
736
A puzzling mutation in congenital erythropoietic porphyria and an association with β-thalassaemia trait. 61
22429022 2012
737
Brainstem dysfunction in variegate porphyria. 61
22907235 2012
738
[Diagnosis and management of suspected nephrolithiasis in a primary care setting]. 61
22945820 2012
739
Assessing nutritional status of acute intermittent porphyria patients. 61
22519672 2012
740
Polycyclic aromatic hydrocarbons (PAHs) mediate transcriptional activation of the ATP binding cassette transporter ABCB6 gene via the aryl hydrocarbon receptor (AhR). 61
22761424 2012
741
Deferasirox for porphyria cutanea tarda: a pilot study. 61
22911183 2012
742
Direct and simultaneous determination of 5-aminolaevulinic acid and porphobilinogen in urine by hydrophilic interaction liquid chromatography-electrospray ionisation/tandem mass spectrometry. 61
22740490 2012
743
Successful treatment of refractory blisters in porphyria cutanea tarda with topical pimecrolimus combined with oral hydroxychloroquine: an alternative to phlebotomy in patients with renal insufficiency and anemia. 61
22735193 2012
744
Diagnosis of common dermopathies in dialysis patients: a review and update. 61
22809004 2012
745
Metabolic correction of congenital erythropoietic porphyria with iPSCs free of reprogramming factors. 61
22795135 2012
746
Acute intermittent porphyria: a diagnostic challenge. 61
22190498 2012
747
Hepatitis C, porphyria cutanea tarda and liver iron: an update. 61
22510500 2012
748
Impairment of heme biosynthesis induces short circadian period in body temperature rhythms in mice. 61
22552790 2012
749
[Factitious Disorder in Obstetrics: Case Report]. 61
26573505 2012
750
Transient and intensive pharmacological immunosuppression fails to improve AAV-based liver gene transfer in non-human primates. 61
22704060 2012
751
Mutational analysis of uroporphyrinogen III cosynthase gene in Iranian families with congenital erythropoietic porphyria. 61
22350154 2012
752
Acute intermittent porphyria: fatal complications of treatment. 61
22783787 2012
753
Genetic background effects of keratin 8 and 18 in a DDC-induced hepatotoxicity and Mallory-Denk body formation mouse model. 61
22449798 2012
754
Variegate porphyria and atrial fibrillation: acute attack induced by propafenone. 61
22118989 2012
755
Cardiac surgery in patients with acute intermittent porphyria. 61
22176385 2012
756
An atypical case of Guillain-Barré syndrome: acute intermittent porphyria. 61
22273750 2012
757
[Acute neuropathy with tetraparesis and respiratory insufficiency in cases of acute intermittent porphyria]. 61
22473685 2012
758
Molecular analysis of the UROD gene in 17 Argentinean patients with familial porphyria cutanea tarda: characterization of four novel mutations. 61
22382040 2012
759
Frequency of HCV infection in different dermatological disorders. 61
24397054 2012
760
A molecular study of congenital erythropoietic porphyria in cattle. 61
22404357 2012
761
Acute intermittent porphyria with SIADH and fluctuating dysautonomia. 61
23132486 2012
762
[Acute Intermittent porphyria and valproic acid]. 61
22112281 2012
763
The role of photography in dermatology research. 61
22397476 2012
764
Tongue hyperpigmentation resulting from peginterferon alfa-2b and ribavirin treatment in a patient with chronic hepatitis C. 61
21948358 2012
765
A review of the clinical presentation, natural history and inheritance of variegate porphyria: its implausibility as the source of the 'Royal Malady'. 61
22049218 2012
766
Fifty years of porphyria at the University of Cape Town. 61
22668925 2012
767
A right Royal porphyria fallacy. 61
22258763 2012
768
Identification of an AluY-mediated deletion of exon 5 in the CPOX gene by MLPA analysis in patients with hereditary coproporphyria. 61
21231929 2012
769
ALAS1 gene expression is down-regulated by Akt-mediated phosphorylation and nuclear exclusion of FOXO1 by vanadate in diabetic mice. 61
22070747 2012
770
Hemin, an iron-binding porphyrin, inhibits HIF-1α induction through its binding with heat shock protein 90. 61
21413014 2012
771
Comprehensive cytochrome P450 CYP1A2 gene analysis in French caucasian patients with familial and sporadic porphyria cutanea tarda. 61
21929532 2012
772
Retracing an old journey in variegate porphyria. 61
22268855 2012
773
Extended haplotype studies in South African and Dutch variegate porphyria families carrying the recurrent p.R59W mutation confirm a common ancestry. 61
21910705 2012
774
Intermittent hepatic porphyria in pregnancy with good perinatal outcome. 61
22634923 2012
775
Liver transplantation for acute intermittent porphyria is complicated by a high rate of hepatic artery thrombosis. 61
21618697 2012
776
Liver Transplantation because of Acute Liver Failure due to Heme Arginate Overdose in a Patient with Acute Intermittent Porphyria. 61
22649331 2012
777
Renal failure affects the enzymatic activities of the three first steps in hepatic heme biosynthesis in the acute intermittent porphyria mouse. 61
22412963 2012
778
Localized scleroderma associated with chronic hepatitis C. 61
23213578 2012
779
Porphyria cutanea tarda with multiple nodular foci in the liver. 61
22115986 2012
780
Porphyria cutanea tarda with constrictive pericarditis: a rare association. 61
23259094 2012
781
Functional Characterization of Five Protoporphyrinogen oxidase Missense Mutations Found in Argentinean Variegate Porphyria Patients. 61
23430901 2012
782
The porphyrias: advances in diagnosis and treatment. 61
23233556 2012
783
[Hepatic porphyrias with cutaneous symptoms]. 61
22822600 2012
784
Phylogenetic analysis of uroporphyrinogen III synthase (UROS) gene. 61
23275732 2012
785
Bone marrow transplantation improves symptoms of congenital erythropoietic porphyria even when done post puberty. 61
22199075 2012
786
A case report of anesthesia management in the liver transplantation recipient with porphyria -A case report-. 61
22323960 2012
787
Acute intermittent porphyria--diagnostic and treatment traps. 61
22788092 2012
788
Improvement in ocular cicatricial pemphigoid following treatment for porphyria cutanea tarda. 61
23118521 2012
789
Domino liver transplantation: how far can we push the paradigm? 61
21987415 2012
790
Multiple sclerosis or neuromyelitis optica? Re-evaluating an 18th-century illness using 21st-century software. 61
22299068 2012
791
Morphologic features of extrahepatic manifestations of hepatitis C virus infection. 61
22919404 2012
792
[Toxic effects of cadmium on the human body (literature review)]. 61
22997758 2012
793
Purple pigments: the pathophysiology of acute porphyric neuropathy. 61
21855406 2011
794
Acute intermittent porphyria, an important and rare differential diagnosis of acute abdomen: case report and literature review. 61
23949467 2011
795
Porphyria cutanea tarda and glucose metabolism alterations. 61
21916882 2011
796
Uroporphyria in the Cyp1a2-/- mouse. 61
21880518 2011
797
Acute intermittent porphyria after gastroplasty. 61
22297895 2011
798
Heme arginate potentiates latent HIV-1 reactivation while inhibiting the acute infection. 61
22001321 2011
799
Digenic inheritance of mutations in the coproporphyrinogen oxidase and protoporphyrinogen oxidase genes in a unique type of porphyria. 61
21734717 2011
800
Drugs in porphyria: From observation to a modern algorithm-based system for the prediction of porphyrogenicity. 61
21704073 2011
801
Amatoxin and phallotoxin composition in species of the genus Amanita in Colombia: a taxonomic perspective. 61
21945592 2011
802
European specialist porphyria laboratories: diagnostic strategies, analytical quality, clinical interpretation, and reporting as assessed by an external quality assurance program. 61
21937752 2011
803
How porphyrinogenic drugs modeling acute porphyria impair the hormonal status that regulates glucose metabolism. Their relevance in the onset of this disease. 61
21889565 2011
804
Anesthesia for cesarian section in pregnant woman with acute intermittent porphyria and hypothyroidism--case report. 61
22428497 2011
805
[Clinical and neuroimaging features of central nervous system impairments in acute intermittent porphyria]. 61
22322059 2011
806
Bilateral, geographic, peripapillary, chorioretinal atrophy in a patient with porphyria cutanea tarda and high iron stores. 61
21775216 2011
807
Screening for hepatocellular carcinoma in acute intermittent porphyria. 61
21726304 2011
808
Evaluation of a commercially available rapid urinary porphobilinogen test. 61
21627493 2011
809
Images in clinical medicine: Porphyria cutanea tarda. 61
21992125 2011
810
Porphyria cutanea tarda, iron, inflammation and diabetes mellitus. 61
21884037 2011
811
Hepatoerythropoietic porphyria due to a novel mutation in the uroporphyrinogen decarboxylase gene. 61
21668429 2011
812