MCID: HYP035
MIFTS: 58

Hypophosphatasia

Categories: Rare diseases, Oral diseases, Genetic diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Hypophosphatasia

MalaCards integrated aliases for Hypophosphatasia:

Name: Hypophosphatasia 12 72 23 49 24 55 36 28 51 41 14 69
Phosphoethanolaminuria 49 24 55
Deficiency of Alkaline Phosphatase 12 24
Childhood Hypophosphatasia 12 69
Rathburn Disease 49 55
Deficiency of Alkaline Phosphatase [ambiguous] 12
Hypophosphatasia, Childhood 41
Infantile Hypophosphatasia 69
Hypophospatasia, Childhood 12
Phosphoethanol-Aminuria 49
Hypophosphatasia Mild 49
Hpp 55

Characteristics:

Orphanet epidemiological data:

55
hypophosphatasia
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-9/1000000 (Europe),1-9/1000000 (France),1-9/1000000 (United Kingdom),1-9/1000000 (Ireland),1-9/1000000 (Japan); Age of onset: All ages; Age of death: any age;

Classifications:



External Ids:

Disease Ontology 12 DOID:14213
ICD10 32 E83.39
NCIt 46 C26798
Orphanet 55 ORPHA436
MESH via Orphanet 42 D007014
UMLS via Orphanet 70 C0020630
ICD10 via Orphanet 33 E83.3
KEGG 36 H00213

Summaries for Hypophosphatasia

NIH Rare Diseases : 49 Hypophosphatasia (HPP) is a genetic condition that causes abnormal development of the bones and teeth. The severity of HPP can vary widely, from fetal death to fractures that don't begin until adulthood. Signs and symptoms may include poor feeding and respiratory problems in infancy; short stature; weak and soft bones; short limbs; other skeletal abnormalities; and hypercalcemia. Complications can be life-threatening. The mildest form of the condition, called odontohypophosphatasia, only affects the teeth. HPP is caused by mutations in the ALPL gene. Perinatal (onset before birth) and infantile HPP are inherited in an autosomal recessive manner. The milder forms, especially adult forms and odontohypophosphatasia, may be inherited in an autosomal recessive or autosomal dominant manner. While treatment has always been symptomatic and supportive, recently an enzyme replacement therapy (ERT) called asfotase alfa has been show to improve bone manifestations people with childhood onset HPP and has been approved by the FDA. Last updated: 2/1/2016

MalaCards based summary : Hypophosphatasia, also known as phosphoethanolaminuria, is related to hypophosphatasia, childhood and hypophosphatasia, infantile, and has symptoms including abnormality of the dentition, large fontanelles and irritability. An important gene associated with Hypophosphatasia is ALPL (Alkaline Phosphatase, Liver/Bone/Kidney), and among its related pathways/superpathways are Folate biosynthesis and NAD metabolism. The drugs Antibodies and Immunoglobulins have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and liver, and related phenotypes are digestive/alimentary and growth/size/body region

Genetics Home Reference : 24 Hypophosphatasia is an inherited disorder that affects the development of bones and teeth. This condition disrupts a process called mineralization, in which minerals such as calcium and phosphorus are deposited in developing bones and teeth. Mineralization is critical for the formation of bones that are strong and rigid and teeth that can withstand chewing and grinding.

Wikipedia : 72 Hypophosphatasia (also called deficiency of alkaline phosphatase or phosphoethanolaminuria) is a rare,... more...

GeneReviews: NBK1150

Related Diseases for Hypophosphatasia

Diseases in the Hypophosphatasia family:

Hypophosphatasia, Adult Hypophosphatasia, Infantile

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

(showing 72, show less)
# Related Disease Score Top Affiliating Genes
1 hypophosphatasia, childhood 34.1 ALPL SPTA1
2 hypophosphatasia, infantile 33.7 ALPL ALPP SPTA1
3 hypophosphatasia, adult 33.6 ALPL ENPP1 SPTA1
4 chondrocalcinosis 29.8 ALPL ENPP1
5 osteomalacia 29.5 ALPL PHEX
6 hypophosphatemia 28.9 DSPP ENPP1 PHEX
7 prenatal benign hypophosphatasia 11.9
8 pyropoikilocytosis, hereditary 11.7
9 atelosteogenesis, type i 10.9
10 boomerang dysplasia 10.9
11 dentin dysplasia, type i 10.9
12 tick infestation 10.3 ALPL ALPP
13 testis seminoma 10.3 ALPL ALPP
14 ossification of the posterior longitudinal ligament of spine 10.2 ENPP1 RUNX2
15 autosomal recessive hypophosphatemic rickets 10.2 ENPP1 PHEX
16 arterial calcification of infancy 10.1 ENPP1 PHEX
17 periodontitis 10.1
18 hypophosphatemic rickets with hypercalciuria, hereditary 10.1 ENPP1 PHEX
19 osseous heteroplasia, progressive 10.0 ALPP ENPP1 RUNX2
20 hypercalcemia, infantile, 1 10.0
21 craniosynostosis 10.0
22 bone remodeling disease 10.0 PHEX RUNX2
23 rickets 10.0 ALPL ENPP1 PHEX
24 saethre-chotzen syndrome 10.0 ALPP RUNX2
25 dentin caries 9.9 ALPP DSPP
26 angel-shaped phalangoepiphyseal dysplasia 9.9
27 cleidocranial dysplasia 9.9
28 intracranial hypertension, idiopathic 9.9
29 aging 9.9
30 brittle bone disorder 9.9
31 pustulosis of palm and sole 9.9
32 pancreatitis 9.9
33 psoriasis 9.9
34 teeth, supernumerary 9.9 DSPP RUNX2
35 ankylosis 9.9 PLCB4 RUNX2
36 hypercementosis 9.9 DSPP ENPP1
37 episodic pain syndrome, familial, 1 9.8
38 cohen-gibson syndrome 9.8
39 osteomyelitis 9.8
40 renal osteodystrophy 9.8
41 hyperparathyroidism 9.8
42 periarthritis 9.8
43 periodontal disease 9.8
44 arthropathy 9.8
45 myopathy 9.8
46 root resorption 9.8 DSPP RUNX2
47 calcinosis 9.7 ENPP1 PHEX
48 cleft palate, isolated 9.7
49 hypercalciuria, absorptive, 2 9.7
50 hypochondroplasia 9.7
51 corneal dystrophy, band-shaped 9.7
52 chronic recurrent multifocal osteomyelitis 9.7
53 phenylketonuria 9.7
54 retinitis pigmentosa 9.7
55 leber congenital amaurosis 4 9.7
56 osteoarthritis with mild chondrodysplasia 9.7
57 west syndrome 9.7
58 arthritis 9.7
59 hepatitis 9.7
60 keratopathy 9.7
61 leukemia 9.7
62 osteoarthritis 9.7
63 hyperphosphatemia 9.7
64 nephrotic syndrome 9.7
65 nephrocalcinosis 9.7
66 gingivitis 9.7
67 retinitis 9.7
68 paraplegia 9.7
69 morquio syndrome 9.7
70 dwarfism 9.7
71 endotheliitis 9.7
72 hypophosphatemic rickets, x-linked recessive 9.6 DSPP ENPP1 PHEX

Graphical network of the top 20 diseases related to Hypophosphatasia:



Diseases related to Hypophosphatasia

Symptoms & Phenotypes for Hypophosphatasia

Human phenotypes related to Hypophosphatasia:

55 31 (showing 20, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the dentition 55 31 hallmark (90%) Very frequent (99-80%) HP:0000164
2 large fontanelles 55 31 hallmark (90%) Very frequent (99-80%) HP:0000239
3 irritability 55 31 frequent (33%) Frequent (79-30%) HP:0000737
4 abnormality of the ribs 55 31 hallmark (90%) Very frequent (99-80%) HP:0000772
5 narrow chest 55 31 hallmark (90%) Very frequent (99-80%) HP:0000774
6 abnormality of the metaphysis 55 31 hallmark (90%) Very frequent (99-80%) HP:0000944
7 skin dimple over apex of long bone angulation 55 31 hallmark (90%) Very frequent (99-80%) HP:0001024
8 seizures 55 31 frequent (33%) Frequent (79-30%) HP:0001250
9 muscular hypotonia 55 31 frequent (33%) Frequent (79-30%) HP:0001252
10 craniosynostosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0001363
11 failure to thrive in infancy 55 31 hallmark (90%) Very frequent (99-80%) HP:0001531
12 anemia 55 31 frequent (33%) Frequent (79-30%) HP:0001903
13 respiratory insufficiency 55 31 frequent (33%) Frequent (79-30%) HP:0002093
14 emphysema 55 31 hallmark (90%) Very frequent (99-80%) HP:0002097
15 recurrent fractures 55 31 frequent (33%) Frequent (79-30%) HP:0002757
16 hypercalcemia 55 31 frequent (33%) Frequent (79-30%) HP:0003072
17 short stature 55 31 hallmark (90%) Very frequent (99-80%) HP:0004322
18 bowing of the long bones 55 31 hallmark (90%) Very frequent (99-80%) HP:0006487
19 feeding difficulties in infancy 55 31 hallmark (90%) Very frequent (99-80%) HP:0008872
20 skin dimples 55 Very frequent (99-80%)

UMLS symptoms related to Hypophosphatasia:


vomiting, seizures, fever of unknown origin, constipation, apnea, waddling gait

MGI Mouse Phenotypes related to Hypophosphatasia:

43 (showing 3, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.55 ALPL PHEX PLCG1 RUNX2 SPTA1
2 growth/size/body region MP:0005378 9.5 ENPP1 PHEX PLCB4 PLCG1 RUNX2 SPTA1
3 skeleton MP:0005390 9.1 ALPL ENPP1 PHEX PLCB4 RUNX2 SPTA1

Drugs & Therapeutics for Hypophosphatasia

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

(showing 2, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Antibodies Phase 4,Phase 2,Phase 3,Phase 1
2 Immunoglobulins Phase 4,Phase 2,Phase 3,Phase 1

Interventional clinical trials:

(showing 24, show less)

# Name Status NCT ID Phase Drugs
1 Post-approval Clinical Study of Asfotase Alfa Treatment for Patients With Hypophosphatasia (HPP) in Japan Completed NCT02531867 Phase 4
2 Open-Label Study of Asfotase Alfa in Infants and Children ≤ 5 Years of Age With Hypophosphatasia (HPP) Completed NCT01176266 Phase 2, Phase 3 asfotase alfa
3 Safety and Efficacy of Asfotase Alfa in Patients With Hypophosphatasia (HPP) Completed NCT02456038 Phase 2 Asfotase Alfa (ALXN1215)
4 Safety and Efficacy Study of Asfotase Alfa in Adolescents and Adults With Hypophosphatasia (HPP) Completed NCT01163149 Phase 2 asfotase alfa;asfotase alfa
5 Extension Study of Protocol ENB-002-08 - Study of Asfotase Alfa in Infants and Young Children With Hypophosphatasia (HPP) Completed NCT01205152 Phase 2
6 Dose Escalation Study to Evaluate the Safety and Tolerability of Multiple Infusions of BPS804 in Adults With Hypophosphatasia (HPP) Completed NCT01406977 Phase 2 BPS804
7 Pharmacokinetic, and Dose Response Study of Asfotase Alfa in Adult Patients With Pediatric-Onset Hypophosphatasia (HPP) Completed NCT02797821 Phase 2 Asfotase alfa
8 Extension Study of Protocol ENB-006-09 - Study of Asfotase Alfa in Children With Hypophosphatasia (HPP) Completed NCT01203826 Phase 2
9 Safety and Efficacy of Asfotase Alfa in Juvenile Patients With Hypophosphatasia (HPP) Completed NCT00952484 Phase 2
10 Safety and Efficacy Study of Asfotase Alfa in Severely Affected Infants With Hypophosphatasia (HPP) Completed NCT00744042 Phase 1, Phase 2
11 Safety and Efficacy Study of ENB-0040 in Juvenile Patients With Hypophosphatasia (HPP) Withdrawn NCT00894075 Phase 2
12 Safety Study of Human Recombinant Tissue Non-Specific Alkaline Phosphatase Fusion Protein Asfotase Alfa in Adults With Hypophosphatasia (HPP) Completed NCT00739505 Phase 1
13 Expanded Access Program for Asfotase Alfa Treatment for Patients With Infantile- or Juvenile-onset Hypophosphatasia (HPP) Approved for marketing NCT02496689
14 A Retrospective Study of the Natural History of Patients With Severe Perinatal and Infantile Hypophosphatasia (HPP) Completed NCT01419028
15 Retrospective, Non-interventional Natural History of Patients With Juvenile-onset Hypophosphatasia (HPP) Completed NCT02104219
16 Burden of Disease in Hypophosphatasia (HPP) Completed NCT02291497
17 Non-interventional Substudy of ALX-HPP-502 to Assess Natural History of Patients With Juvenile-onset HPP Who Served as Historical Controls in ENB-006-09 Completed NCT02235493
18 Health Burden of Hypophosphatasia Recruiting NCT02751801
19 Natural History Study of Patients With Hypophosphatasia (HPP) Recruiting NCT02237625
20 Biomarker for Hypophosphatasia Disease Recruiting NCT02603042
21 Characterisation of Adult-Onset Hypophosphatasia Recruiting NCT02796885
22 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
23 An Observational, Longitudinal, Prospective, Long-Term Registry Of Patients With Hypophosphatasia (HPP) Enrolling by invitation NCT02306720
24 Evaluate and Monitor Physical Performance of Adults Treated With Asfotase Alfa for Hypophosphatasia Not yet recruiting NCT03418389

Search NIH Clinical Center for Hypophosphatasia

Cochrane evidence based reviews: hypophosphatasia

Genetic Tests for Hypophosphatasia

Genetic tests related to Hypophosphatasia:

# Genetic test Affiliating Genes
1 Hypophosphatasia 28 ALPL

Anatomical Context for Hypophosphatasia

MalaCards organs/tissues related to Hypophosphatasia:

38
Bone, Skin, Liver, Bone Marrow, Kidney, Testes, Neutrophil

Publications for Hypophosphatasia

Articles related to Hypophosphatasia:

(showing 556, show less)
# Title Authors Year
1
Hypophosphatasia: Biochemical hallmarks validate the expanded pediatric clinical nosology. ( 29360619 )
2018
2
Validation of a Novel Scoring System for Changes in Skeletal Manifestations of Hypophosphatasia in Newborns, Infants, and Children: The Radiographic Global Impression of Change Scale. ( 29297597 )
2018
3
Hypophosphatasia: oral cavity and dental disorders. ( 29405938 )
2017
4
Atypical femur fractures: a distinctive tract of adult hypophosphatasia. ( 29354161 )
2017
5
Hypophosphatasia: clinical manifestation and burden of disease in adult patients. ( 29263739 )
2017
6
Clinical and Genetic Findings of Turkish Hypophosphatasia Cases. ( 28663156 )
2017
7
Safety and efficacy of treatment with asfotase alfa in patients with hypophosphatasia: Results from a Japanese clinical trial. ( 28374482 )
2017
8
Renal impairment in hypophosphatasia. ( 29405941 )
2017
9
Infantile hypophosphatasia combined with vitamin B6-responsive seizures and reticular formation lesions on magnetic resonance imaging: A case report. ( 28802630 )
2017
10
Hypophosphatasia: the contribution of imaging. ( 29405937 )
2017
11
Hypophosphatasia in Adults: Clinical Assessment and Treatment Considerations. ( 28731215 )
2017
12
Craniosynostosis and hypophosphatasia. ( 29405940 )
2017
13
A homozygous intronic branch-point deletion in the ALPL gene causes infantile hypophosphatasia. ( 27777120 )
2017
14
Neuromuscular features of hypophosphatasia. ( 29405939 )
2017
15
Hypophosphatasia: Enzyme Replacement Therapy Brings New Opportunities and New Challenges. ( 28084648 )
2017
16
Efficacy of anti-sclerostin monoclonal antibody BPS804 in adult patients with hypophosphatasia. ( 28436937 )
2017
17
Genetics of hypophosphatasia. ( 29405932 )
2017
18
Adult-onset hypophosphatasia diagnosed following bilateral atypical femoral fractures in a 55-year-old woman. ( 29354166 )
2017
19
Hypophosphatasia in children and adolescents: clinical features and treatment. ( 29405935 )
2017
20
Hypophosphatasia: the patient's and patient's family's point of view. ( 29405942 )
2017
21
[Infantile hypophosphatasia caused by a novel compound heterozygous mutation: a case report and pedigree analysis]. ( 28506345 )
2017
22
Successful Use of Enzyme Replacement Therapy in Infantile Hypophosphatasia. ( 28868782 )
2017
23
Monitoring guidance for patients with hypophosphatasia treated with asfotase alfa. ( 28888853 )
2017
24
Hypophosphatasia. ( 28939177 )
2017
25
Adult hypophosphatasia. ( 29405936 )
2017
26
Hypophosphatasia: An overview For 2017. ( 28238808 )
2017
27
Early Tooth Loss in Children: A Warning Sign of Childhood Hypophosphatasia. ( 29172356 )
2017
28
Identification of altered brain metabolites associated with TNAP activity in a mouse model of hypophosphatasia using untargeted NMR-based metabolomics analysis. ( 28072448 )
2017
29
Molecular and clinical analysis of ALPL in a cohort of patients with suspicion of Hypophosphatasia. ( 28127875 )
2017
30
Perinatal and infantile hypophosphatasia: clinical features and treatment. ( 29405934 )
2017
31
Laboratory diagnosis of hypophosphatasia. ( 29405933 )
2017
32
A Newborn with No Bones: Neonatal Hypophosphatasia with Respiratory Distress. ( 28662950 )
2017
33
Clinical, radiographic and biochemical characteristics of adult hypophosphatasia. ( 28547134 )
2017
34
Parental serum alkaline phosphatase activity as an auxiliary tool for prenatal diagnosis of hypophosphatasia. ( 28326564 )
2017
35
Teriparatide treatment in an adult patient with hypophosphatasia exposed to bisphosphonate and revealed by bilateral atypical fractures. ( 29246529 )
2017
36
Monoallelic FGFR3 and Biallelic ALPL mutations in a Thai girl with hypochondroplasia and hypophosphatasia. ( 28763161 )
2017
37
Identification of hypophosphatasia in a clinical setting: Clinical manifestations and diagnostic recommendations in adult patients. ( 28755823 )
2017
38
Could biochemistry lab alert for low alkaline phosphatase prompt diagnosis of hypophosphatasia? ( 28766503 )
2017
39
Successful Asfotase Alfa Treatment in an Adult Dialysis Patient With Childhood-Onset Hypophosphatasia. ( 29264574 )
2017
40
Pyridoxine Responsive Seizures in Infantile Hypophosphatasia and a Novel Homozygous Mutation in ALPL gene. ( 27086862 )
2016
41
Asfotase alfa (Strensiq) for hypophosphatasia. ( 27403786 )
2016
42
Alkaline Phosphatase and Hypophosphatasia. ( 26590809 )
2016
43
Asfotase Alfa: A Review in Paediatric-Onset Hypophosphatasia. ( 26744272 )
2016
44
Hypophosphatasia: Natural history study of 101 affected children investigated at one research center. ( 27576207 )
2016
45
Nondestructive Microcomputed Tomography Evaluation of Mineral Density in Exfoliated Teeth with Hypophosphatasia. ( 27847653 )
2016
46
Hypophosphatasia and the risk of atypical femur fractures: a case-control study. ( 27507156 )
2016
47
Hypophosphatasia: diagnosis and clinical signs - a dental surgeon perspective. ( 27030892 )
2016
48
Gene therapy improves dental manifestations in hypophosphatasia model mice. ( 27561677 )
2016
49
Bone mineralization-dependent craniosynostosis and craniofacial shape abnormalities in the mouse model of infantile hypophosphatasia. ( 26605996 )
2016
50
Atypical femoral fracture in a 51-year-old woman: Revealing a hypophosphatasia. ( 26992955 )
2016
51
Asfotase Alfa in Perinatal/Infantile-Onset and Juvenile-Onset Hypophosphatasia: A Guide to Its Use in the USA. ( 26832358 )
2016
52
Case series: Odontohypophosphatasia or missed diagnosis of childhood/adult-onset hypophosphatasia? - Call for a long-term follow-up of premature loss of primary teeth. ( 28580391 )
2016
53
Hypophosphatasia. ( 27084188 )
2016
54
HYPOPHOSPHATASIA WITH THE ASSOCIATION OF INV(1)(q11,q21.3) AND CLEFT PALATE. ( 27192895 )
2016
55
A Diagnostic Algorithm for Children with Low Alkaline Phosphatase Activities: Lessons Learned from Laboratory Screening forA Hypophosphatasia. ( 26896157 )
2016
56
Molecular defect of tissue-nonspecific alkaline phosphatase bearing a substitution at position 426 associated with hypophosphatasia. ( 28000043 )
2016
57
Adult hypophosphatasia. ( 26962706 )
2016
58
Conditional Alpl Ablation Phenocopies Dental Defects of Hypophosphatasia. ( 27582029 )
2016
59
Neurodevelopmental alterations and seizures developed by mouse model of infantile hypophosphatasia are associated with purinergic signalling deregulation. ( 27466191 )
2016
60
Pathophysiology of hypophosphatasia and the potential role of asfotase alfa. ( 27274262 )
2016
61
Hypophosphatasia - aetiology, nosology, pathogenesis, diagnosis and treatment. ( 26893260 )
2016
62
Clinical Images: A Cloudy Skull-Hypophosphatasia as Reason for Copper-Beaten Skull. ( 27780282 )
2016
63
Recognizing the clinical triad and dural calcification in adult hypophosphatasia. ( 27994097 )
2016
64
ADULT HYPOPHOSPHATASIA TREATED WITH TERIPARATIDE: REPORT OF TWO PATIENTS AND REVIEW OF THE LITERATURE. ( 27042741 )
2016
65
Hypophosphatasia: Evaluation of Size and Mineral Density of Exfoliated Teeth. ( 27805893 )
2016
66
The Editor recommends this issue's article to the reader: Hypophosphatasia: diagnosis and clinical signs - a dental surgeon perspective. ( 27704676 )
2016
67
Asfotase alfa: enzyme replacement for the treatment of bone disease in hypophosphatasia. ( 27376160 )
2016
68
Physical therapy management of infants and children with hypophosphatasia. ( 27386757 )
2016
69
Treatment of hypophosphatasia by muscle-directed expression of bone-targeted alkaline phosphatase via self-complementary AAV8 vector. ( 26904710 )
2016
70
Transformative therapy in hypophosphatasia. ( 26992417 )
2016
71
First Korean Case of Infantile Hypophosphatasia with Novel Mutation in ALPL and Literature Review. ( 27312557 )
2016
72
Current concepts in odontohypophosphatasia form of hypophosphatasia and report of two cases. ( 27531358 )
2016
73
Asfotase alfa therapy for children with hypophosphatasia. ( 27699270 )
2016
74
Burden of disease in adult patients with hypophosphatasia: Results from two patient-reported surveys. ( 27621187 )
2016
75
Glycosylation-deficient mutations in tissue-nonspecific alkaline phosphatase impair its structure and function and are linked to infantile hypophosphatasia. ( 26797772 )
2016
76
Identification of a molecular defect in a stillborn fetus with perinatal lethal hypophosphatasia using a disease-associated genome sequencing approach. ( 27179278 )
2016
77
Prevention of Lethal Murine Hypophosphatasia by Neonatal Ex Vivo Gene Therapy Using Lentivirally Transduced Bone Marrow Cells. ( 26467745 )
2015
78
Clinical management of hypophosphatasia. ( 26604944 )
2015
79
Neurological Symptoms of Hypophosphatasia. ( 26219717 )
2015
80
Clinical Forms and Animal Models of Hypophosphatasia. ( 26219704 )
2015
81
Prenatal diagnosis of hypophosphatasia congenita using ultrasonography. ( 25971898 )
2015
82
Molecular diagnosis of hypophosphatasia and differential diagnosis by targeted Next Generation Sequencing. ( 26432670 )
2015
83
Hypophosphatasia due to uniparental disomy. ( 25937451 )
2015
84
How Do we Estimate Quality Adjusted Life Years (Qalys) in Rare Diseases? A Case Study in Hypophosphatasia. ( 26533650 )
2015
85
Expensive New Biologic Helps Children Fight Hypophosphatasia. ( 26803886 )
2015
86
Molecular Genetics of Hypophosphatasia and Phenotype-Genotype Correlations. ( 26219705 )
2015
87
Asfotase Alfa Treatment Improves Survival for Perinatal and Infantile Hypophosphatasia. ( 26529632 )
2015
88
Enzyme replacement for craniofacial skeletal defects and craniosynostosis in murine hypophosphatasia. ( 25959417 )
2015
89
Hypophosphatasia: an overview of the disease and its treatment. ( 26245849 )
2015
90
Reversible Deterioration in Hypophosphatasia Caused by Renal Failure with Bisphosphonate Treatment. ( 25736332 )
2015
91
Lethal hypophosphatasia successfully treated with enzyme replacement from day 1 after birth. ( 26459154 )
2015
92
Bilateral Femoral Neck Fractures in A Young Patient Suffering from Hypophosphatasia, Due to A First Time Epileptic Seizure. ( 27299074 )
2015
93
Recombinant Enzyme Replacement Therapy in Hypophosphatasia. ( 26219718 )
2015
94
Enzyme replacement therapy for congenital hypophosphatasia allows for surgical treatment of related complex craniosynostosis: a case series. ( 25929963 )
2015
95
Postnatal Pancraniosynostosis in a Patient With Infantile Hypophosphatasia. ( 26171568 )
2015
96
Improvement of the skeletal and dental hypophosphatasia phenotype in Alpl-/- mice by administration of soluble (non-targeted) chimeric alkaline phosphatase. ( 25433339 )
2015
97
Hypophosphatasia: Validation and expansion of the clinical nosology for children from 25years experience with 173 pediatric patients. ( 25731960 )
2015
98
Molecular evolution of the tissue-nonspecific alkaline phosphatase allows prediction and validation of missense mutations responsible for hypophosphatasia. ( 25023282 )
2014
99
Childhood Hypophosphatasia with Homozygous Mutation of ALPL. ( 25100374 )
2014
100
Tissue-nonspecific alkaline phosphatase deficiency causes abnormal craniofacial bone development in the Alpl(-/-) mouse model of infantile hypophosphatasia. ( 25014884 )
2014
101
Prosthetic rehabilitation of hypophosphatasia with precision attachment retained unconventional partial denture: a case report. ( 25654044 )
2014
102
Unexpected high intrafamilial phenotypic variability observed in hypophosphatasia. ( 24569605 )
2014
103
Ex Vivo Expanded Allogeneic Mesenchymal Stem Cells with Bone Marrow Transplantation Improved Osteogenesis in Infants with Severe Hypophosphatasia. ( 25396326 )
2014
104
Therapy-related Ph+ leukemia after both bone marrow and mesenchymal stem cell transplantation for hypophosphatasia. ( 23782379 )
2013
105
Infantile loss of teeth: odontohypophosphatasia or childhood hypophosphatasia. ( 23093139 )
2013
106
An unusual stress fracture in an archer with hypophosphatasia. ( 24383027 )
2013
107
Did Tutankhamun suffer from hypophosphatasia?--A hypothetical approach. ( 24466636 )
2013
108
Characterization of six missense mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in Chinese children with hypophosphatasia. ( 24022022 )
2013
109
A Case of Vitamin D Deficiency without Elevation of Serum Alkaline Phosphatase in a Carrier of Hypophosphatasia. ( 24170964 )
2013
110
Benign prenatal hypophosphatasia: a treatable disease not to be missed. ( 24145968 )
2013
111
Clinical utility gene card for: Hypophosphatasia - update 2013. ( 23921539 )
2013
112
An asparagine at position 417 of tissue-nonspecific alkaline phosphatase is essential for its structure and function as revealed by analysis of the N417S mutation associated with severe hypophosphatasia. ( 23688511 )
2013
113
Current concepts in hypophosphatasia: case report and literature review. ( 22672232 )
2013
114
Infantile hypophosphatasia secondary to a novel compound heterozygous mutation presenting with pyridoxine-responsive seizures. ( 23479201 )
2013
115
Infantile hypophosphatasia without bone deformities presenting with severe pyridoxine-resistant seizures. ( 24100244 )
2013
116
Hypophosphatasia. ( 23858621 )
2013
117
Outcome of perinatal hypophosphatasia in manitoba mennonites: a retrospective cohort analysis. ( 23580367 )
2013
118
Clinical spectrum of hypophosphatasia diagnosed in adults. ( 23352924 )
2013
119
Calcific periarthritis as the only clinical manifestation of hypophosphatasia in middle-aged sisters. ( 24123110 )
2013
120
Enzyme replacement therapy on hypophosphatasia mouse model. ( 23978959 )
2013
121
Perinatal hypophosphatasia caused by uniparental isodisomy. ( 24334170 )
2013
122
Tooth root dentin mineralization defects in a mouse model of hypophosphatasia. ( 22991301 )
2013
123
Extracellular matrix mineralization in periodontal tissues: Noncollagenous matrix proteins, enzymes, and relationship to hypophosphatasia and X-linked hypophosphatemia. ( 23931057 )
2013
124
Compound heterozygosity of two functional null mutations in the ALPL gene associated with deleterious neurological outcome in an infant with hypophosphatasia. ( 23454488 )
2013
125
[Analysis of PHEX gene mutation in a hypophosphatasia pedigree]. ( 24078575 )
2013
126
Clinical and genetic aspects of hypophosphatasia in Japanese patients. ( 24276437 )
2013
127
Hypophosphatasia. ( 22729426 )
2013
128
Acute severe hypercalcemia after traumatic fractures and immobilization in hypophosphatasia complicated by chronic renal failure. ( 24064686 )
2013
129
Respiratory mechanics in an infant with perinatal lethal hypophosphatasia treated with human recombinant enzyme replacement therapy. ( 22328548 )
2012
130
Enzyme-replacement therapy for hypophosphatasia. ( 23951502 )
2012
131
Phosphoethanolamine normal range in pediatric urines for hypophosphatasia screening. ( 23093084 )
2012
132
Disulfide bonds are critical for tissue-nonspecific alkaline phosphatase function revealed by analysis of mutant proteins bearing a C(201)-Y or C(489)-S substitution associated with severe hypophosphatasia. ( 22266140 )
2012
133
Acute severe hypercalcemia after traumatic fracture and immobilization in an adult with hypophosphatasia complicated by renal failure. ( 24134972 )
2012
134
Perinatal (lethal) type of hypophosphatasia resulting from paternal isodisomy of chromosome 1. ( 24134977 )
2012
135
Childhood hypophosphatasia with myopathy: clinical report with recent update. ( 22781519 )
2012
136
Hypophosphatasia presenting with pyridoxine-responsive seizures, hypercalcemia, and pseudotumor cerebri: case report. ( 22394703 )
2012
137
Correction of hypophosphatasia-associated mineralization deficiencies in vitro by phosphate/pyrophosphate modulation in periodontal ligament cells. ( 22014174 )
2012
138
Identifying individuals at risk for hypophosphatasia using an Electronic Medical Record (EMR). ( 24134973 )
2012
139
Hypophosphatasia: a series of diagnosis missteps. ( 24134970 )
2012
140
Hypophosphatasia--upcoming treatments. ( 24134996 )
2012
141
Growth hormone increases growth velocity and alkaline phosphatase level in children with hypophosphatasia. ( 24134994 )
2012
142
Evolutionary analysis of ALPL validates and predicts human mutations leading to hypophosphatasia. ( 24134978 )
2012
143
Novel heterozygous tissue-nonspecific alkaline phosphatase (TNAP) gene mutations causing lethal perinatal hypophosphatasia. ( 21638016 )
2012
144
Characterization of a deletion in tissue-nonspecific alkaline phosphatase (p.F327del) as the third frequent mutation in the Japanese patients with hypophosphatasia. ( 24134975 )
2012
145
Hypophosphatasia: enzyme replacement therapy (asfotase alfa) decreases TNSALP substrate accumulation and improves functional outcomes in affected adolescents and adults. ( 24134989 )
2012
146
Adult hypophosphatasia with painful periarticular calcification treated with surgical resection. ( 22167380 )
2012
147
Hypophosphatasia-associated deficiencies in mineralization and gene expression in cultured dental pulp cells obtained from human teeth. ( 22703652 )
2012
148
Successful gene therapy in utero for lethal murine hypophosphatasia. ( 22133046 )
2012
149
Ex vivo gene therapy of severe infantile hypophosphatasia model mice using lentiviral transduced bone marrow cells. ( 24134992 )
2012
150
Clinicogenetical characteristics of Japanese patients with hypophosphatasia. ( 24134976 )
2012
151
A dimerization defect caused by a glycine substitution at position 420 by serine in tissue-nonspecific alkaline phosphatase associated with perinatal hypophosphatasia. ( 23039266 )
2012
152
Gene therapy for lethal murine hypophosphatasia. ( 24134988 )
2012
153
In silico scoring of ALPL gene mutations help to distinguish severe and moderate phenotypes in hypophosphatasia. ( 24134979 )
2012
154
Failure of teriparatide in treatment of bone complications of adult hypophosphatasia. ( 22218563 )
2012
155
Enzyme replacement therapy in different clinical phenotypes of hypophosphatasia--presentation of two cases. ( 24134990 )
2012
156
Enzyme-replacement therapy in life-threatening hypophosphatasia. ( 22397652 )
2012
157
Enzyme replacement prevents enamel defects in hypophosphatasia mice. ( 22461224 )
2012
158
Bone quality changes in 3 cases of hypophosphatasia: a FTIRI study. ( 24134971 )
2012
159
Two common mutations in the ALPL gene in Japanese patients with hypophosphatasia. ( 24134974 )
2012
160
Oro-dental features in hypophosphatasia: a valuable phenotype for disease diagnosis and evaluation of future treatment outcomes. ( 24134967 )
2012
161
"Atypical femoral fractures" during bisphosphonate exposure in adult hypophosphatasia. ( 24134968 )
2012
162
In vitro characterization of TNSALP mutations from two novel mouse models for hypophosphatasia. ( 24134987 )
2012
163
Prosthetic rehabilitation of a young patient with Hypophosphatasia - A review and case report. ( 22557902 )
2012
164
"Atypical femoral fractures" during bisphosphonate exposure in adult hypophosphatasia. ( 22322541 )
2012
165
Identification of the mutations in the tissue-nonspecific alkaline phosphatase gene in two Chinese families with hypophosphatasia. ( 22300680 )
2012
166
Biphosphonates in hypophosphatasia: not the evil? ( 24134995 )
2012
167
Successful gene therapy in utero for lethal murine hypophosphatasia. ( 24134993 )
2012
168
Fracture burden in adults with hypophosphatasia. ( 24134969 )
2012
169
Hypophosphatasia now draws more attention of both clinicians and researchers: a commentary on Prevalence of c. 1559delT in ALPL, a common mutation resulting in the perinatal (lethal) form of hypophosphatasias in Japanese and effects of the mutation on heterozygous carriers. ( 21307860 )
2011
170
Prevalence of c.1559delT in ALPL, a common mutation resulting in the perinatal (lethal) form of hypophosphatasia in Japanese and effects of the mutation on heterozygous carriers. ( 21179104 )
2011
171
Whole-body MRI in the childhood form of hypophosphatasia. ( 20383509 )
2011
172
Dose response of bone-targeted enzyme replacement for murine hypophosphatasia. ( 21458605 )
2011
173
Hypophosphatasia in a child with widened anterior fontanelle: lessons learned from late diagnosis and incorrect treatment. ( 21342251 )
2011
174
Molecular characterization of tissue-nonspecific alkaline phosphatase with an Ala to Thr substitution at position 116 associated with dominantly inherited hypophosphatasia. ( 21168482 )
2011
175
Prolonged survival and phenotypic correction of Akp2(-/-) hypophosphatasia mice by lentiviral gene therapy. ( 20687159 )
2011
176
Enzyme replacement therapy prevents dental defects in a model of hypophosphatasia. ( 21212313 )
2011
177
Prenatal diagnosis of familial lethal hypophosphatasia using imaging, blood enzyme levels, chorionic villus sampling and archived fetal tissue. ( 21564408 )
2011
178
A molecular-based estimation of the prevalence of hypophosphatasia in the European population. ( 21488855 )
2011
179
Rescue of severe infantile hypophosphatasia mice by AAV-mediated sustained expression of soluble alkaline phosphatase. ( 21388343 )
2011
180
Hypophosphatasia: nonlethal disease despite skeletal presentation in utero (17 new cases and literature review). ( 21713987 )
2011
181
Clinical utility gene card for: hypophosphatasia. ( 20978533 )
2011
182
Skeletal mineralization defects in adult hypophosphatasia--a clinical and histological analysis. ( 21267545 )
2011
183
Severe cleidocranial dysplasia and hypophosphatasia in a child with microdeletion of the C-terminal region of RUNX2. ( 20014132 )
2010
184
Clinical, pathological and genetic evaluations of Chinese patients with autosomal-dominant hypophosphatasia. ( 20828673 )
2010
185
Lack of sustained response to teriparatide in a patient with adult hypophosphatasia. ( 20089612 )
2010
186
Clinical characteristics of perinatal lethal hypophosphatasia: a report of 6 cases. ( 23926372 )
2010
187
Restoration of cellular function of mesenchymal stem cells from a hypophosphatasia patient. ( 19940865 )
2010
188
Physiological role of alkaline phosphatase explored in hypophosphatasia. ( 20392236 )
2010
189
Genetic etiology and dental pulp cell deficiency of hypophosphatasia. ( 20924064 )
2010
190
Parathyroid hormone treatment improves pain and fracture healing in adult hypophosphatasia. ( 20739387 )
2010
191
Chronic recurrent multifocal osteomyelitis mimicked in childhood hypophosphatasia. ( 19335222 )
2009
192
Mild forms of hypophosphatasia mostly result from dominant negative effect of severe alleles or from compound heterozygosity for severe and moderate alleles. ( 19500388 )
2009
193
Orodental phenotype and genotype findings in all subtypes of hypophosphatasia. ( 19232125 )
2009
194
Hypophosphatasia may lead to bone fragility: don't miss it. ( 18818947 )
2009
195
Comment on "Hypophosphatasia associated with pseudotumor cerebri and respiratory insufficiency". ( 19693457 )
2009
196
Prosthetic rehabilitation of hypophosphatasia: a case report. ( 19918476 )
2009
197
Infantile hypophosphatasia due to a new compound heterozygous TNSALP mutation - functional evidence for a hydrophobic side-chain? ( 18523927 )
2009
198
How can calcium pyrophosphate crystals induce inflammation in hypophosphatasia or chronic inflammatory joint diseases? ( 18821074 )
2009
199
Hypophosphatasia: phenotypic variability and possible Croatian origin of the c.1402g>A mutation of TNSALP gene. ( 20102078 )
2009
200
[Study on dental pulp stem cells from patients with hypophosphatasia]. ( 19221568 )
2009
201
Prosthodontic rehabilitation of hypophosphatasia using dental implants: a review of the literature and two case reports. ( 19422434 )
2009
202
Atypical femoral fractures, bisphosphonates, and adult hypophosphatasia. ( 19113923 )
2009
203
Teriparatide treatment in adult hypophosphatasia in a patient exposed to bisphosphonate: a case report. ( 22461258 )
2009
204
Neurosurgical aspects of childhood hypophosphatasia. ( 18769927 )
2009
205
Novel human pathological mutations. Gene symbol: ALPL. Disease: hypophosphatasia. ( 19309795 )
2009
206
New bone formation by allogeneic mesenchymal stem cell transplantation in a patient with perinatal hypophosphatasia. ( 19446101 )
2009
207
Treatment of adult hypophosphatasia with teriparatide. ( 18308659 )
2008
208
Intramedullary nailing for adult hypophosphatasia: a case report. ( 19126913 )
2008
209
Hypophosphatasia. ( 18328985 )
2008
210
Hypophosphatasia: molecular testing of 19 prenatal cases and discussion about genetic counseling. ( 18925618 )
2008
211
Hyperechoic metaphyses in hypophosphatasia: what does it mean? ( 18084754 )
2008
212
Molecular basis of perinatal hypophosphatasia with tissue-nonspecific alkaline phosphatase bearing a conservative replacement of valine by alanine at position 406. Structural importance of the crown domain. ( 18422967 )
2008
213
Specific ultrasonographic features of perinatal lethal hypophosphatasia. ( 18386808 )
2008
214
A new mechanism of dominance in hypophosphatasia: the mutated protein can disturb the cell localization of the wild-type protein. ( 18340466 )
2008
215
A case of lethal hypophosphatasia providing new insights into the perinatal benign form of hypophosphatasia and expression of the ALPL gene. ( 17922851 )
2008
216
Enzyme replacement therapy for murine hypophosphatasia. ( 18086009 )
2008
217
Hypophosphatasia associated with pseudotumor cerebri and respiratory insufficiency. ( 18334804 )
2008
218
Bone-targeted replacement therapy for hypophosphatasia. ( 18318644 )
2008
219
Autosomal recessive hypophosphatasia manifesting in utero with long bone deformity but showing spontaneous postnatal improvement. ( 18559907 )
2008
220
Hypophosphatasia update: recent advances in diagnosis and treatment. ( 18190594 )
2008
221
[Therapy for hypophosphatasia]. ( 17906415 )
2007
222
Long-term follow-up of bone mineral density in childhood hypophosphatasia. ( 17420150 )
2007
223
Chronic multifocal non-bacterial osteomyelitis in hypophosphatasia mimicking malignancy. ( 17241478 )
2007
224
Specific osseous spurs in a lethal form of hypophosphatasia correlated with 3D prenatal ultrasonographic images. ( 17238218 )
2007
225
Mutations of the tissue non-specific alkaline phosphatase gene (TNAP) causing a non-lethal case of perinatal hypophosphatasia. ( 17409132 )
2007
226
Pyridoxine-responsive seizures as the first symptom of infantile hypophosphatasia caused by two novel missense mutations (c.677T>C, p.M226T; c.1112C>T, p.T371I) of the tissue-nonspecific alkaline phosphatase gene. ( 17395561 )
2007
227
Infantile hypophosphatasia: transplantation therapy trial using bone fragments and cultured osteoblasts. ( 17519318 )
2007
228
Novel mouse model of autosomal semidominant adult hypophosphatasia has a splice site mutation in the tissue nonspecific alkaline phosphatase gene Akp2. ( 17539739 )
2007
229
Delayed transport of tissue-nonspecific alkaline phosphatase with missense mutations causing hypophosphatasia. ( 17719863 )
2007
230
Adult hypophosphatasia treated with teriparatide. ( 17213282 )
2007
231
Prenatal genetic diagnosis of severe perinatal (lethal) hypophosphatasia. ( 17384481 )
2007
232
Hypophosphatasia. ( 17916236 )
2007
233
Homozygosity for TNSALP mutation 1348c>T (Arg433Cys) causes infantile hypophosphatasia manifesting transient disease correction and variably lethal outcome in a kindred of black ancestry. ( 16769381 )
2006
234
Analysis of the periodontal microbiota in childhood-type hypophosphatasia. ( 16875876 )
2006
235
Effective NSAID treatment indicates that hyperprostaglandinism is affecting the clinical severity of childhood hypophosphatasia. ( 16803637 )
2006
236
Low serum alkaline phosphatase activity and pathologic fracture: case report and brief review of hypophosphatasia diagnosed in adulthood. ( 17229666 )
2006
237
Elevated skeletal osteopontin levels contribute to the hypophosphatasia phenotype in Akp2(-/-) mice. ( 16939396 )
2006
238
Clinics in diagnostic imaging (112). Perinatal lethal hypophosphatasia (PLH). ( 17075671 )
2006
239
Aberrant interchain disulfide bridge of tissue-nonspecific alkaline phosphatase with an Arg433-->Cys substitution associated with severe hypophosphatasia. ( 17212778 )
2006
240
Cementum and dentin in hypophosphatasia. ( 16246934 )
2005
241
Bilateral transverse (Bowdler) fibular spurs with hypophosphatasia in an adolescent girl. ( 15782022 )
2005
242
Mild hypophosphatasia in utero: bent bones in a family with dental disease. ( 15840803 )
2005
243
Autosomal recessive adult-onset hypophosphatasia. ( 16373239 )
2005
244
Characterization of the mutant (A115V) tissue-nonspecific alkaline phosphatase gene from adult-type hypophosphatasia. ( 15629439 )
2005
245
Adult hypophosphatasia and a low level of red blood cell thiamine pyrophosphate. ( 15802905 )
2005
246
Neonatal hypophosphatasia and seizures. A case report. ( 16205618 )
2005
247
Childhood hypophosphatasia due to a de novo missense mutation in the tissue-nonspecific alkaline phosphatase gene. ( 15671102 )
2005
248
Characterization of 11 novel mutations in the tissue non-specific alkaline phosphatase gene responsible for hypophosphatasia and genotype-phenotype correlations. ( 15694177 )
2005
249
Common mutations F310L and T1559del in the tissue-nonspecific alkaline phosphatase gene are related to distinct phenotypes in Japanese patients with hypophosphatasia. ( 15660230 )
2005
250
[Hypophosphatasia: report of two affected girls with spontaneous improvement of skeletal defects]. ( 16583935 )
2005
251
Hypophosphatasia in Taiwan: report of two cases. ( 15875439 )
2005
252
Sustained osteomalacia of long bones despite major improvement in other hypophosphatasia-related mineral deficits in tissue nonspecific alkaline phosphatase/nucleotide pyrophosphatase phosphodiesterase 1 double-deficient mice. ( 15920156 )
2005
253
A successful treatment with pyridoxal phosphate for West syndrome in hypophosphatasia. ( 15033207 )
2004
254
The mutant (F310L and V365I) tissue-nonspecific alkaline phosphatase gene from hypophosphatasia. ( 15137467 )
2004
255
Childhood hypophosphatasia: a case report due to a novel mutation. ( 15135428 )
2004
256
Positive maternal serum triple test screening in severe early onset hypophosphatasia. ( 15300736 )
2004
257
Severe hypophosphatasia: characterization of fifteen novel mutations in the ALPL gene. ( 12815606 )
2003
258
Severe perinatal hypophosphatasia due to homozygous deletion of T at nucleotide 1559 in the tissue nonspecific alkaline phosphatase gene. ( 12975786 )
2003
259
A case of hypophosphatasia. ( 14735810 )
2003
260
Marrow cell transplantation for infantile hypophosphatasia. ( 12674323 )
2003
261
Hypophosphatasia associated with increased nuchal translucency: a report of two affected pregnancies. ( 12230456 )
2002
262
Denaturing gradient gel electrophoresis analysis of the tissue nonspecific alkaline phosphatase isoenzyme gene in hypophosphatasia. ( 11855933 )
2002
263
Evidence of a founder effect for the tissue-nonspecific alkaline phosphatase (TNSALP) gene E174K mutation in hypophosphatasia patients. ( 12357339 )
2002
264
Kinetic characterization of hypophosphatasia mutations with physiological substrates. ( 12162492 )
2002
265
Glu274Lys/Gly309Arg mutation of the tissue-nonspecific alkaline phosphatase gene in neonatal hypophosphatasia associated with convulsions. ( 11999978 )
2002
266
Importance of deletion of T at nucleotide 1559 in the tissue-nonspecific alkaline phosphatase gene in Japanese patients with hypophosphatasia. ( 11810413 )
2002
267
Pyridoxine-dependent seizures associated with hypophosphatasia in a newborn. ( 12026240 )
2002
268
Retention at the cis-Golgi and delayed degradation of tissue-non-specific alkaline phosphatase with an Asn153-->Asp substitution, a cause of perinatal hypophosphatasia. ( 11802776 )
2002
269
Severe cleidocranial dysplasia can mimic hypophosphatasia. ( 12424591 )
2002
270
G317D mutation in the tissue-nonspecific alkaline phosphatase gene associated with childhood hypophosphatasia in a German family. ( 12638946 )
2002
271
Function of mutant (G1144A) tissue-nonspecific ALP gene from hypophosphatasia. ( 12412800 )
2002
272
Severe hypophosphatasia due to mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene. ( 12416636 )
2002
273
Cleidocranial dysplasia with decreased bone density and biochemical findings of hypophosphatasia. ( 12424590 )
2002
274
A molecular approach to dominance in hypophosphatasia. ( 11479741 )
2001
275
A novel point mutation (C571T) in the tissue-non-specific alkaline phosphatase gene in a case of adult-type hypophosphatasia. ( 11834095 )
2001
276
Hypophosphatasia: molecular diagnosis of Rathbun's original case. ( 11547844 )
2001
277
Adult hypophosphatasia. Current aspects. ( 11324927 )
2001
278
Mutational analysis and functional correlation with phenotype in German patients with childhood-type hypophosphatasia. ( 11760847 )
2001
279
Twelve novel mutations in the tissue-nonspecific alkaline phosphatase gene (ALPL) in patients with various forms of hypophosphatasia. ( 11438998 )
2001
280
Perinatal hypophosphatasia: radiology, pathology and molecular biology studies in a family harboring a splicing mutation (648+1A) and a novel missense mutation (N400S) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene. ( 11745997 )
2001
281
Pyridoxine-induced photosensitivity and hypophosphatasia. ( 11146351 )
2000
282
Prenatal diagnosis of congenital hypophosphatasia in a consanguineous Bedouin couple. A case report. ( 10948473 )
2000
283
Hypophosphatasia: the mutations in the tissue-nonspecific alkaline phosphatase gene. ( 10737975 )
2000
284
Alkaline phosphatase isoenzymes and clinical features in hypophosphatasia. ( 11085622 )
2000
285
Infantile hypophosphatasia: disappointing results of treatment. ( 10914973 )
2000
286
Asp361Val mutant of alkaline phosphatase found in patients with dominantly inherited hypophosphatasia inhibits the activity of the wild-type enzyme. ( 10690885 )
2000
287
Comparison of serum catalytic activity and immunoreactivity of bone alkaline phosphatase in hypophosphatasia. ( 10727673 )
2000
288
Possible interference between tissue-non-specific alkaline phosphatase with an Arg54-->Cys substitution and acounterpart with an Asp277-->Ala substitution found in a compound heterozygote associated with severe hypophosphatasia. ( 10839996 )
2000
289
Characterization of a family with dominant hypophosphatasia. ( 10872988 )
2000
290
Neutrophil alkaline phosphatase (NAP) score in the diagnosis of hypophosphatasia. ( 11074063 )
2000
291
Severe hypercalcaemia and respiratory insufficiency associated with infantile hypophosphatasia caused by two novel mutations of the tissue-nonspecific alkaline phosphatase gene. ( 10834525 )
2000
292
Fifteen new mutations (-195C>T, L-12X, 298-2A>G, T117N, A159T, R229S, 997+2T>A, E274X, A331T, H364R, D389G, 1256delC, R433H, N461I, C472S) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with hypophosphatasia. ( 10679946 )
2000
293
Hypophosphatasia: the importance of alkaline phosphatase in bone mineralization. ( 10659574 )
1999
294
Mild autosomal dominant hypophosphatasia: in utero presentation in two families. ( 10508980 )
1999
295
Molecular diagnosis of hypophosphatasia with severe periodontitis. ( 10397525 )
1999
296
Perinatal hypophosphatasia: diagnosis and detection of heterozygote carriers within the family. ( 10636450 )
1999
297
Red-cell thiamine pyrophosphate levels in hypophosphatasia. ( 10070629 )
1999
298
Correlations of genotype and phenotype in hypophosphatasia. ( 10332035 )
1999
299
Alkaline phosphatase knock-out mice recapitulate the metabolic and skeletal defects of infantile hypophosphatasia. ( 10620060 )
1999
300
Bone metabolism and bone mineral density in childhood hypophosphatasia. ( 10495141 )
1999
301
Hypophosphatasia: diagnostic application of linked DNA markers in the dominantly inherited adult form. ( 10369796 )
1999
302
Mild hypophosphatasia mimicking severe osteogenesis imperfecta in utero: bent but not broken. ( 10508985 )
1999
303
Correlation of alkaline phosphatase (ALP) determination and analysis of the tissue non-specific ALP gene in prenatal diagnosis of severe hypophosphatasia. ( 10451522 )
1999
304
Treatment of childhood hypophosphatasia with nonsteroidal antiinflammatory drugs. ( 10574582 )
1999
305
[A light and scanning electron microscopic study of primary teeth in hypophosphatasia]. ( 11776910 )
1999
306
Characterization of eleven novel mutations (M45L, R119H, 544delG, G145V, H154Y, C184Y, D289V, 862+5A, 1172delC, R411X, E459K) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with severe hypophosphatasia. ( 10094560 )
1999
307
Infantile hypophosphatasia. ( 17277537 )
1999
308
Persistently raised serum acid phosphatase activity in a patient with hypophosphatasia: electrophoretic and molecular weight characterisation as type 5. ( 9565336 )
1998
309
Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in European patients with severe hypophosphatasia. ( 9781036 )
1998
310
Intracellular retention and degradation of tissue-nonspecific alkaline phosphatase with a Gly317-->Asp substitution associated with lethal hypophosphatasia. ( 9618260 )
1998
311
A novel missense mutation of the tissue-nonspecific alkaline phosphatase gene detected in a patient with hypophosphatasia. ( 9747027 )
1998
312
Hypophosphatasia: identification of five novel missense mutations (G507A, G705A, A748G, T1155C, G1320A) in the tissue-nonspecific alkaline phosphatase gene among Japanese patients. ( 9452105 )
1998
313
Lethal hypophosphatasia, spur type: case report and fetopathological study. ( 9777343 )
1998
314
Increase in leukocyte alkaline phosphatase in a patient with hypophosphatasia during pregnancy. ( 9501278 )
1998
315
Relationship between serum alkaline phosphatase and pyridoxal-5'-phosphate levels in hypophosphatasia. ( 9536930 )
1998
316
Defective intracellular transport of tissue-nonspecific alkaline phosphatase with an Ala162-->Thr mutation associated with lethal hypophosphatasia. ( 9562633 )
1998
317
Analysis of localization of mutated tissue-nonspecific alkaline phosphatase proteins associated with neonatal hypophosphatasia using green fluorescent protein chimeras. ( 9814472 )
1998
318
Expression of the mutant (1735T-DEL) tissue-nonspecific alkaline phosphatase gene from hypophosphatasia patients. ( 9844100 )
1998
319
Detection of deletion 1154-1156 hypophosphatasia mutation using TNSALP exon amplification. ( 9192863 )
1997
320
Adult hypophosphatasia in an aged patient. ( 9272313 )
1997
321
Childhood hypophosphatasia. A case report. ( 9188264 )
1997
322
Infantile hypophosphatasia: treatment options to control hypercalcemia, hypercalciuria, and chronic bone demineralization. ( 9152296 )
1997
323
Absence of adult dental anomalies in familial hypophosphatasia. ( 9210091 )
1997
324
Inactivation of two mouse alkaline phosphatase genes and establishment of a model of infantile hypophosphatasia. ( 9056646 )
1997
325
Genetic analysis of hypophosphatasia. ( 9316305 )
1997
326
Matrix vesicles in osteomalacic hypophosphatasia bone contain apatite-like mineral crystals. ( 9403706 )
1997
327
A clinical and research protocol for characterizing patients with hypophosphatasia. ( 8668564 )
1996
328
Hypophosphatasia: levels of bone alkaline phosphatase immunoreactivity in serum reflect disease severity. ( 8964842 )
1996
329
Hypophosphatasia affecting the permanent dentition. ( 8887081 )
1996
330
Aberrant properties of alkaline phosphatase in patient fibroblasts correlate with clinical expressivity in severe forms of hypophosphatasia. ( 8675582 )
1996
331
First-trimester prenatal molecular diagnosis of infantile hypophosphatasia in a Japanese family. ( 8809899 )
1996
332
Hypophosphatasia. ( 8881924 )
1996
333
Identification of novel missense mutations (Phe310Leu and Gly439Arg) in a neonatal case of hypophosphatasia. ( 8954059 )
1996
334
A congenital lethal form of hypophosphatasia: histologic and ultrastructural study. ( 8677780 )
1996
335
Prenatal diagnosis of congenital hypophosphatasia. ( 7699095 )
1995
336
Neonatal form of hypophosphatasia. A case report. ( 8560613 )
1995
337
Hypophosphatasia in a newborn infant. ( 7732610 )
1995
338
Alkaline phosphatase: placental and tissue-nonspecific isoenzymes hydrolyze phosphoethanolamine, inorganic pyrophosphate, and pyridoxal 5'-phosphate. Substrate accumulation in carriers of hypophosphatasia corrects during pregnancy. ( 7706447 )
1995
339
Infantile hypophosphatasia: successful prenatal assessment by testing for tissue-non-specific alkaline phosphatase isoenzyme gene mutations. ( 8606878 )
1995
340
Novel missense and frameshift mutations in the tissue-nonspecific alkaline phosphatase gene in a Japanese patient with hypophosphatasia. ( 7833929 )
1994
341
Hypophosphatasia and the role of alkaline phosphatase in skeletal mineralization. ( 7988481 )
1994
342
Periodontal manifestation of hypophosphatasia. A family case report. ( 7852617 )
1994
343
Hereditary hypophosphatasia and hyperphosphatasia. ( 8060771 )
1994
344
Lack of evidence for hypophosphatasia as a factor in the pathogenesis of early-onset periodontitis. ( 8531251 )
1994
345
Generalized odontodysplasia concomitant with mild hypophosphatasia--a case report. ( 8384047 )
1993
346
Hypophosphatasia ( 20301329 )
1993
347
Clinical and laboratory studies of severe periodontal disease in an adolescent associated with hypophosphatasia. A case report. ( 8385214 )
1993
348
A homoallelic Gly317-->Asp mutation in ALPL causes the perinatal (lethal) form of hypophosphatasia in Canadian mennonites. ( 8406453 )
1993
349
[Molecular cloning of liver/bone/kidney-type alkaline phosphatase complementary and genomic DNA: analyses of its deficiency, infantile hypophosphatasia]. ( 8096553 )
1993
350
The Ala-161-->Thr substitution in Escherichia coli alkaline phosphatase does not result in loss of enzymatic activity although the homologous mutation in humans causes hypophosphatasia. ( 8323535 )
1993
351
Evidence against a role for alkaline phosphatase in the dephosphorylation of plasma membrane proteins: hypophosphatasia fibroblast study. ( 8227182 )
1993
352
Hypophosphatasia: dental aspects and mode of inheritance. ( 8227447 )
1993
353
Missense mutations of the tissue-nonspecific alkaline phosphatase gene in hypophosphatasia. ( 1360878 )
1992
354
Perinatal hypophosphatasia. ( 1459699 )
1992
355
Phenotypically dissimilar hypophosphatasia in two sibships. ( 1308350 )
1992
356
Reduced bone mineral density and low parathyroid hormone levels in patients with the adult form of hypophosphatasia. ( 1392424 )
1992
357
Renal osteodystrophy, disorders of vitamin D metabolism, and hypophosphatasia. ( 1599820 )
1992
358
Different missense mutations at the tissue-nonspecific alkaline phosphatase gene locus in autosomal recessively inherited forms of mild and severe hypophosphatasia. ( 1409720 )
1992
359
Hypophosphatasia: a family study involving a case diagnosed from gingival crevicular fluid. ( 1432739 )
1992
360
Serum osteocalcin levels before and after 1,25 dihydroxy-vitamin D stimulation in a family with hypophosphatasia. ( 1793676 )
1991
361
First-trimester prenatal diagnosis of hypophosphatasia: experience with 16 cases. ( 1924179 )
1991
362
Perinatal lethal hypophosphatasia; clinical, radiologic and morphologic findings. ( 1749675 )
1991
363
Hypophosphatasemia, not hypophosphatasia. ( 1920324 )
1991
364
Carrier diagnosis by RFLP analysis in a family affected with infantile hypophosphatasia: case report. ( 1687418 )
1991
365
Raised urinary excretion of inorganic pyrophosphate in asymptomatic members of a hypophosphatasia kindred. ( 1667625 )
1991
366
Computer assisted analysis of hand radiographs in infantile hypophosphatasia carriers. ( 2047163 )
1991
367
Hypophosphatasia. ( 1819578 )
1991
368
Perinatal ultrasound casebook. Antenatal findings in congenital hypophosphatasia. ( 1919830 )
1991
369
Retrospective study of children with hypophosphatasia with reference to dental changes. ( 1754836 )
1991
370
First-trimester diagnosis of hypophosphatasia. Importance of gestational age and purity of CV samples. ( 1788179 )
1991
371
Hypophosphatasia in an adult: a case report. ( 1865578 )
1991
372
Permanent teeth in hypophosphatasia: light and electron microscopic study. ( 1895252 )
1991
373
[A case of severe periodontal disease in adolescence associated with hypophosphatasia]. ( 1955807 )
1991
374
Prenatal diagnosis of infantile hypophosphatasia. ( 1680232 )
1991
375
Hypophosphatasia and the extracellular metabolism of inorganic pyrophosphate: clinical and laboratory aspects. ( 1647780 )
1991
376
Prenatal diagnosis of hypophosphatasia. ( 2405175 )
1990
377
Hyperphosphatemia in infantile hypophosphatasia: implications for carrier diagnosis and screening. ( 2301398 )
1990
378
Alkaline phosphatase (tissue-nonspecific isoenzyme) is a phosphoethanolamine and pyridoxal-5'-phosphate ectophosphatase: normal and hypophosphatasia fibroblast study. ( 2220817 )
1990
379
Clinical disorders of vitamin D, renal osteodystrophy, and hypophosphatasia. ( 2223436 )
1990
380
Recurrent calcific periarthritis, erosive osteoarthritis and hypophosphatasia: a family study. ( 2290172 )
1990
381
Prenatal follow-up of hypophosphatasia by ultrasound: case report. ( 2178994 )
1990
382
Myopathy with hypophosphatasia. ( 2301976 )
1990
383
Immunological study on hypophosphatasia. ( 2253404 )
1990
384
Infantile hypophosphatasia: autosomal recessive transmission to two related sibships. ( 2333903 )
1990
385
Infantile hypophosphatasia: localization within chromosome region 1p36.1-34 and prenatal diagnosis using linked DNA markers. ( 1689104 )
1990
386
Increased plasma pyridoxal-5'-phosphate levels before and after pyridoxine loading in carriers of perinatal/infantile hypophosphatasia. ( 2079838 )
1990
387
Analysis of liver/bone/kidney alkaline phosphatase mRNA, DNA, and enzymatic activity in cultured skin fibroblasts from 14 unrelated patients with severe hypophosphatasia. ( 2705456 )
1989
388
Prominent transverse (Bowdler) bone spurs as a diagnostic clue in a case of neonatal hypophosphatasia without metaphyseal irregularity. ( 2755749 )
1989
389
Crystal deposition in hypophosphatasia: a reappraisal. ( 2549888 )
1989
390
Dental aspects of hypophosphatasia: a case report, family study, and literature review. ( 2654797 )
1989
391
Skin dimples in hypophosphatasia. ( 2721809 )
1989
392
First identification of a gene defect for hypophosphatasia: evidence that alkaline phosphatase acts in skeletal mineralization. ( 2605956 )
1989
393
Biochemical and morphological effects of human hepatic alkaline phosphatase in a neonate with hypophosphatasia. ( 2642253 )
1989
394
Perinatal hypophosphatasia: tissue levels of vitamin B6 are unremarkable despite markedly increased circulating concentrations of pyridoxal-5'-phosphate. Evidence for an ectoenzyme role for tissue-nonspecific alkaline phosphatase. ( 3350970 )
1988
395
Accumulation of phosphorus compounds in tissues and cultured skin fibroblasts in patients with hypophosphatasia. ( 3408505 )
1988
396
Pulmonary hypoplasia in neonatal hypophosphatasia. ( 3227000 )
1988
397
Hypophosphatasia: report of a case with unique oral manifestations. ( 3256598 )
1988
398
Adult hypophosphatasia in a geriatric patient. ( 3339218 )
1988
399
Lethal osteogenesis imperfecta: abnormal collagen metabolism and biochemical characteristics of hypophosphatasia. ( 3181205 )
1988
400
Hypophosphatasia: biochemical screening of a Dutch kindred and evidence that urinary excretion of inorganic pyrophosphate is a marker for the disease. ( 2843309 )
1988
401
A missense mutation in the human liver/bone/kidney alkaline phosphatase gene causing a lethal form of hypophosphatasia. ( 3174660 )
1988
402
Infantile hypophosphatasia fibroblasts proliferate normally in culture: evidence against a role for alkaline phosphatase (tissue nonspecific isoenzyme) in the regulation of cell growth and differentiation. ( 3103894 )
1987
403
A mild form of hypophosphatasia as a cause of premature exfoliation of primary teeth: report of two cases. ( 3472186 )
1987
404
Infantile hypophosphatasia--linkage with the RH locus. ( 3128473 )
1987
405
Infantile hypophosphatasia: enzymatic defect explored with alkaline phosphatase-deficient skin fibroblasts in culture. ( 3107777 )
1987
406
Infantile hypophosphatasia: normalization of circulating bone alkaline phosphatase activity followed by skeletal remineralization. Evidence for an intact structural gene for tissue nonspecific alkaline phosphatase. ( 3944698 )
1986
407
Ectopic calcification in hypophosphatasia. ( 3769946 )
1986
408
Management of femoral fractures and pseudofractures in adult hypophosphatasia. ( 3745261 )
1986
409
Normal activity of nucleoside triphosphate pyrophosphatase in alkaline phosphatase-deficient fibroblasts from patients with infantile hypophosphatasia. ( 3020080 )
1986
410
Hypophosphatasia. ( 3078782 )
1986
411
Neutrophil alkaline phosphatase in hypophosphatasia. ( 4000211 )
1985
412
Inheritance of hypophosphatasia. ( 4069031 )
1985
413
Histologic and ultrastructural studies on the mineralization process in hypophosphatasia. ( 4073124 )
1985
414
Normal circulating acid phosphatase activity in hypophosphatasia. ( 3939595 )
1985
415
Imaging case of the month. Hypophosphatasia. ( 3893454 )
1985
416
First trimester diagnosis of hypophosphatasia with a monoclonal antibody to the liver/bone/kidney isoenzyme of alkaline phosphatase. ( 2864577 )
1985
417
Hyperphosphataemia in hypophosphatasia. ( 4088394 )
1985
418
Morquio syndrome (MPS IVA) and hypophosphatasia in a Hutterite kindred. ( 3933344 )
1985
419
Early prenatal diagnosis of congenital hypophosphatasia: case report. ( 3883342 )
1985
420
Markedly increased circulating pyridoxal-5'-phosphate levels in hypophosphatasia. Alkaline phosphatase acts in vitamin B6 metabolism. ( 4031070 )
1985
421
Hypophosphatasia: clinicopathologic comparison of the infantile, childhood, and adult forms. ( 6690884 )
1984
422
Cranial manifestations of hypophosphatasia in childhood nephrotic syndrome. ( 6430833 )
1984
423
Enzyme replacement therapy for infantile hypophosphatasia attempted by intravenous infusions of alkaline phosphatase-rich Paget plasma: results in three additional patients. ( 6502342 )
1984
424
Hypophosphatasia and nephrocalcinosis demonstrated by ultrasound and CT. ( 6396009 )
1984
425
Adult hypophosphatasia without apparent skeletal disease: "odontohypophosphatasia" in four heterozygote members of a family. ( 6727276 )
1984
426
Atypical retinitis pigmentosa with hypophosphatasia. ( 6591589 )
1983
427
Adult hypophosphatasia. ( 6648620 )
1983
428
Clinical, laboratory, and genetic investigations of hypophosphatasia: support for autosomal dominant inheritance with homozygous lethality. ( 6643650 )
1983
429
Alkaline phosphatase deficiency in cultured skin fibroblasts from patients with hypophosphatasia: comparison of the infantile, childhood, and adult forms. ( 6885967 )
1983
430
Hypophosphatasia. ( 6572063 )
1983
431
Cholestatic jaundice with a normal serum alkaline phosphatase level: another case of hypophosphatasia in an adult. ( 6847845 )
1983
432
Isoenzymes of alkaline phosphatase in infantile hypophosphatasia. ( 6854132 )
1983
433
Adult hypophosphatasia: generalized deficiency of alkaline phosphatase activity demonstrated with cultured skin fibroblasts. ( 7182980 )
1982
434
The prominent falx cerebri: new ultrasonic observation in hypophosphatasia. ( 6798081 )
1982
435
Lethal and mild hypophosphatasia in half-sibs. ( 7130355 )
1982
436
Infantile hypophosphatasia diagnosed at 4 months and surviving at 2 years. ( 7085329 )
1982
437
Infantile hypophosphatasia: enzyme replacement therapy by intravenous infusion of alkaline phosphatase-rich plasma from patients with Paget bone disease. ( 7108657 )
1982
438
Clinical, radiological, morphological and biochemical data on fetal congenital lethal hypophosphatasia. ( 7163257 )
1982
439
Hypophosphatasia. ( 7136701 )
1982
440
Adult hypophosphatasia with chondrocalcinosis and arthropathy. Variable penetrance of hypophosphatasemia in a large Oklahoma kindred. ( 7072744 )
1982
441
Fetal congenital lethal hypophosphatasia: histochemical absence of alkaline phosphatase activity in endothelial cells of intramuscular capillaries. ( 6214919 )
1982
442
Hypophosphatasia congenita letalis. ( 7094944 )
1982
443
Circulating vitamin D metabolite levels in hypophosphatasia. ( 6978889 )
1982
444
Prenatal diagnosis of congenital hypophosphatasia: challenge met most adequately by fetal radiography. ( 7163290 )
1982
445
Vitamin D metabolism in hypophosphatasia. ( 6291316 )
1982
446
Pyrophosphate arthropathy in hypophosphatasia. ( 6261701 )
1981
447
Prenatal diagnosis of hypophosphatasia. ( 7243133 )
1981
448
Fifty-year follow-up of hypophosphatasia. ( 7305584 )
1981
449
Heterogeneity of adult hypophosphatasia. Report of severe and mild cases. ( 7235780 )
1981
450
Hypophosphatasia in renal-transplant patients. ( 7008975 )
1981
451
Two siblings with hypophosphatasia. ( 7415841 )
1980
452
Neonatal hypophosphatasia. (A case report). ( 7251128 )
1980
453
Hypophosphatasia (adult form): quantitation of serum alkaline phosphatase isoenzyme activity in a large kindred. ( 7379306 )
1980
454
Hyperparathyroidism and infantile hypophosphatasia: effect of prednisone and vitamin K therapy. ( 501490 )
1979
455
Childhood hypophosphatasia with oral manifestations. ( 289724 )
1979
456
Orthopaedic problems in adult hypophosphatasia: a report of two cases. ( 422640 )
1979
457
Hypophosphatasia: a case report and literature review. ( 396268 )
1979
458
Hypophosphatasia: biochemical diagnosis in post-mortem organs, plasma and diploid skin fibroblasts [proceedings]. ( 93946 )
1979
459
Skull scintigraphy in infantile hypophosphatasia. ( 536807 )
1979
460
Adult hypophosphatasia. Clinical, laboratory, and genetic investigation of a large kindred with review of the literature. ( 481194 )
1979
461
Alkaline phosphatase induction in fibroblast cultures: prenatal diagnosis and carrier detection in hypophosphatasia. ( 723908 )
1978
462
Prenatal diagnosis of hypophosphatasia; genetic, biochemical, and clinical studies. ( 677124 )
1978
463
The urinary excretion of phosphoethanolamine in diseases other than hypophosphatasia. ( 623130 )
1978
464
Adult hypophosphatasia dominant inheritance in a large kindred. ( 754388 )
1978
465
A patient with hypophosphatasia and hyperprolinaemia. ( 634414 )
1978
466
Serum alkaline phosphatase, serum pyrophosphatase, phosphorylethanolamine and inorganic pyrophosphate in plasma and urine. A genetic and clinical study of hypophosphatasia. ( 214699 )
1978
467
Prenatal detection of hypophosphatasia: cytological and genetic considerations. ( 117235 )
1978
468
Neonatal hypophosphatasia with elevated serum parathyroid hormone. ( 858308 )
1977
469
Prenatal diagnosis of hypophosphatasia. ( 73053 )
1977
470
Hypophosphatasia: a cytochemical study of phosphatase activities. ( 181638 )
1976
471
Hypophosphatasia: a developmental anomaly of alkaline phosphatase? ( 934730 )
1976
472
Prenatal diagnosis of hypophosphatasia. ( 974250 )
1976
473
Letter: Prenatal diagnosis of hypophosphatasia. ( 58251 )
1976
474
Hypophosphatasia. Review of 24 cases. ( 1012798 )
1976
475
Prenatal diagnosis of hypophosphatasia. ( 58381 )
1976
476
Letter: Prenatal diagnosis of hypophosphatasia. ( 55618 )
1976
477
The diagnosis of the early infantile form of hypophosphatasia tarda. ( 1150259 )
1975
478
Hypophosphatasia-study on two autopsy cases. ( 1199730 )
1975
479
Hypophosphatasia. A case report. ( 1134078 )
1975
480
Adult hypophosphatasia. ( 167553 )
1975
481
Fatal neonatal dwarfism: examples of thanatophoric dwarfism and of hypophosphatasia. ( 4618133 )
1974
482
Hypophosphatasia with phenylketonuria. ( 4413747 )
1974
483
Hyperparathyroidism in an elderly adult with hypophosphatasia. ( 4837933 )
1974
484
Hypophosphatasia: screening and family investigation. ( 4426133 )
1974
485
Childhood hypophosphatasia and the premature loss of teeth. A clinical and laboratory study of seven cases. ( 4512507 )
1973
486
Five cases of hypophosphatasia with dental findings. ( 4203655 )
1973
487
Histochemical observations of hypophosphatasia. ( 4501472 )
1972
488
Congenital hypophosphatasia. Report on two cases with special reference to phosphoethanolamine excretion. ( 4663897 )
1972
489
Hypophosphatasia: screening and family investigations in an endogamous Hungarian village. ( 5013867 )
1972
490
Childhood hypophosphatasia. Clinical and cytogenetic studies. ( 4506889 )
1972
491
Hypophosphatasia. ( 5020955 )
1972
492
Inorganic pyrophosphate in plasma in normal persons and in patients with hypophosphatasia, osteogenesis imperfecta, and other disorders of bone. ( 4324072 )
1971
493
Serum alkaline phosphatase in hypophosphatasia. ( 5116205 )
1971
494
Twenty-year follow-up of a case of hypophosphatasia. ( 5173195 )
1971
495
Radiological case of the month. Hypophosphatasia in the newborn. ( 4327541 )
1971
496
Hypophosphatasia in an adult. ( 4319245 )
1970
497
Hypophosphatasia associated with calcium pyrophosphate dihydrate deposits in cartilage. Report of a case. ( 4317094 )
1970
498
Hypophosphatasia: case reports. ( 4313987 )
1970
499
Premature deciduous tooth loss in hypophosphatasia. ( 4316673 )
1970
500
Ultrastructural features of the root surface of deciduous teeth in patients with hypophosphatasia. ( 4314944 )
1969
501
Hypophosphatasia: a case report. ( 4310771 )
1969
502
Oral manifestations of primary hypophosphatasia. A case report. ( 4311672 )
1969
503
Eye signs of hypophosphatasia. ( 4305610 )
1969
504
Studies in hypophosphatasia and response to high phosphate intake. ( 4296178 )
1968
505
Phosphorylethanolamine and hypophosphatasia. ( 4306219 )
1968
506
Hypophosphatasia: review and report of case. ( 4298819 )
1968
507
Hypophosphatasia. Histopathology of human temporal bones. ( 4312121 )
1968
508
Hypophosphatasia: clinical and metabolic studies. ( 4294575 )
1968
509
Intestinal alkaline phosphatase activity in familial hypophosphatasia. ( 4296721 )
1968
510
Hypophosphatasia. ( 5236694 )
1967
511
Hypophosphatasia in monozygotic twins. A case report. ( 4289548 )
1967
512
Hypophosphatasia in an adult. A case report. ( 4292795 )
1967
513
Hypophosphatasia in an adult. ( 4291188 )
1967
514
Congenital hypophosphatasia in a Nigerian neonate. ( 4295840 )
1967
515
Radiological and microradiographic features in a case of congenital hypophosphatasia. ( 4288487 )
1966
516
Hypophosphatasia: genetic and dental studies. ( 4288761 )
1966
517
Hypophosphatasia. ( 4288607 )
1966
518
CLINICAL AND METABOLIC STUDIES IN HYPOPHOSPHATASIA. ( 14338517 )
1965
519
Hypophosphatasia. ( 5825726 )
1965
520
Premature loss of deciduous teeth in identical twins with congenital hypophosphatasia. ( 5215520 )
1965
521
EXCRETION OF INORGANIC PYROPHOSPHATE IN HYPOPHOSPHATASIA. ( 14337825 )
1965
522
HYPOPHOSPHATASIA. A METABOLIC DISEASE WITH IMPORTANT DENTAL MANIFESTATIONS. ( 14230754 )
1964
523
BAND KERATOPATHY AND CONJUNCTIVAL CALCIFICATION IN HYPOPHOSPHATASIA. ( 14109032 )
1964
524
Ethanolamine phosphate excretion in a family with hypophosphatasia. ( 13949647 )
1963
525
Hypophosphatasia in the Newborn. ( 21032406 )
1963
526
Hypophosphatasia with premature shedding of teeth and aplasia of cementum. ( 14016153 )
1962
527
Distribution of alkaline phosphatase in the serum proteins in hypophosphatasia. ( 14458464 )
1962
528
Apparent dominant inheritance of hypophosphatasia. ( 13912932 )
1962
529
Hypophosphatasia: a genetic study. ( 14490519 )
1961
530
Tissue alkaline phosphatase in hypophosphatasia. ( 14439057 )
1960
531
Hypophosphatasia in the adult. ( 13800162 )
1960
532
Hypophosphatasia. ( 14407039 )
1960
533
Distinguishing hypophosphatasia from cretinism by means of alkaline phosphatase stain of skin biopsy. ( 14425882 )
1960
534
An unusual case of kyphotic paraplegia and hypophosphatasia. ( 13745221 )
1960
535
Metabolic observations in adult hypophosphatasia. ( 13798349 )
1960
536
Hypophosphatasia with congenital dimples. ( 13843859 )
1959
537
Hypophosphatasia. ( 14436399 )
1959
538
Absence of leukocyte alkaline phosphatase activity in hypophosphatasia. ( 13671091 )
1959
539
A genetical study of ethanolamine phosphate excretion in hypophosphatasia. ( 14399951 )
1959
540
Hereditary enzymatic effects as illustrated by hypophosphatasia. ( 13627827 )
1958
541
Hypophosphatasia. ( 13513652 )
1958
542
HYPOPHOSPHATASIA. ( 13575173 )
1958
543
The isolation and identification of phosphoethanolamine from the urine of a case of hypophosphatasia. ( 13522611 )
1958
544
Hypophosphatasia. ( 13458558 )
1957
545
Hypophosphatasia. ( 13410963 )
1957
546
The identification of a ninhydrin-positive urinary component recently reported in hypophosphatasia. ( 13479812 )
1957
547
Hypophosphatasia. ( 13459457 )
1957
548
Treatment of hypophosphatasia with cortisone. ( 13320804 )
1956
549
HYPOPHOSPHATASIA. ( 13276665 )
1956
550
Metabolic abnormalities in hypophosphatasia. ( 13234354 )
1955
551
Hypophosphatasia. ( 14350147 )
1955
552
Hypophosphatasia: a newly recognized disease. ( 13252548 )
1955
553
The excretion of phosphoethanolamine and hypophosphatasia. ( 13222868 )
1955
554
Congenital Hypophosphatasia. ( 19993867 )
1955
555
Hypophosphatasia; a new developmental anomaly. ( 18110134 )
1948
556
Hypophosphatasia: better knowledge for better carea8 ( 29405931 )
0

Variations for Hypophosphatasia

ClinVar genetic disease variations for Hypophosphatasia:

6 (showing 12, show less)
# Gene Variation Type Significance SNP ID Assembly Location
1 ALPL NM_000478.5(ALPL): c.881A> C (p.Asp294Ala) single nucleotide variant Pathogenic rs121918002 GRCh37 Chromosome 1, 21900176: 21900176
2 ALPL NM_000478.5(ALPL): c.571G> A (p.Glu191Lys) single nucleotide variant Pathogenic/Likely pathogenic rs121918007 GRCh37 Chromosome 1, 21890632: 21890632
3 ALPL NM_000478.5(ALPL): c.1133A> T (p.Asp378Val) single nucleotide variant Pathogenic rs121918008 GRCh37 Chromosome 1, 21902361: 21902361
4 ALPL NM_000478.5(ALPL): c.1001G> A (p.Gly334Asp) single nucleotide variant Pathogenic/Likely pathogenic rs121918009 GRCh37 Chromosome 1, 21902229: 21902229
5 ALPL NM_000478.5(ALPL): c.979T> C (p.Phe327Leu) single nucleotide variant Pathogenic/Likely pathogenic rs121918010 GRCh37 Chromosome 1, 21900274: 21900274
6 ALPL NM_000478.5(ALPL): c.1559delT (p.Leu520Argfs) deletion Pathogenic rs387906525 GRCh37 Chromosome 1, 21904125: 21904125
7 ALPL NM_000478.5(ALPL): c.407G> A (p.Arg136His) single nucleotide variant Pathogenic/Likely pathogenic rs121918011 GRCh37 Chromosome 1, 21889712: 21889712
8 ALPL NM_000478.5(ALPL): c.485G> T (p.Gly162Val) single nucleotide variant Pathogenic rs121918012 GRCh37 Chromosome 1, 21890546: 21890546
9 ALPL NM_000478.5(ALPL): c.346G> A (p.Ala116Thr) single nucleotide variant Pathogenic/Likely pathogenic rs121918013 GRCh37 Chromosome 1, 21889651: 21889651
10 ALPL NM_000478.5(ALPL): c.746G> T (p.Gly249Val) single nucleotide variant Pathogenic rs121918018 GRCh37 Chromosome 1, 21894694: 21894694
11 ALPL NM_000478.5(ALPL): c.526G> A (p.Ala176Thr) single nucleotide variant Pathogenic/Likely pathogenic rs121918019 GRCh37 Chromosome 1, 21890587: 21890587
12 ALPL NM_000478.5(ALPL): c.814C> T (p.Arg272Cys) single nucleotide variant Pathogenic rs121918020 GRCh37 Chromosome 1, 21896819: 21896819

Expression for Hypophosphatasia

Search GEO for disease gene expression data for Hypophosphatasia.

Pathways for Hypophosphatasia

Pathways related to Hypophosphatasia according to KEGG:

36
(showing 1, show less)
# Name Kegg Source Accession
1 Folate biosynthesis hsa00790

GO Terms for Hypophosphatasia

Biological processes related to Hypophosphatasia according to GeneCards Suite gene sharing:

(showing 5, show less)
# Name GO ID Score Top Affiliating Genes
1 inositol phosphate metabolic process GO:0043647 9.32 PLCB4 PLCG1
2 endochondral ossification GO:0001958 9.26 ALPL RUNX2
3 skeletal system development GO:0001501 9.26 ALPL DSPP PHEX RUNX2
4 response to vitamin D GO:0033280 9.16 ALPL PHEX
5 biomineral tissue development GO:0031214 8.92 ALPL DSPP ENPP1 PHEX

Molecular functions related to Hypophosphatasia according to GeneCards Suite gene sharing:

(showing 7, show less)
# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.63 ALPL ALPP ENPP1 PHEX PLCB4 PLCG1
2 catalytic activity GO:0003824 9.58 ALPL ALPP ENPP1
3 phosphoric diester hydrolase activity GO:0008081 9.37 PLCB4 PLCG1
4 calcium ion binding GO:0005509 9.35 DSPP ENPP1 PLCB4 PLCG1 SPTA1
5 phosphatidylinositol phospholipase C activity GO:0004435 9.32 PLCB4 PLCG1
6 phospholipase C activity GO:0004629 9.26 PLCB4 PLCG1
7 alkaline phosphatase activity GO:0004035 8.62 ALPL ALPP

Sources for Hypophosphatasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....