GSD9D
MCID: MSC006
MIFTS: 49

Muscle Glycogenosis (GSD9D) malady

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

Aliases & Classifications for Muscle Glycogenosis

Aliases & Descriptions for Muscle Glycogenosis:

Name: Muscle Glycogenosis 54 13
Muscle Phosphorylase Kinase Deficiency 12 24 66
Glycogen Storage Disease Due to Muscle Phosphorylase Kinase Deficiency 12 56
Glycogenosis Due to Muscle Phosphorylase Kinase Deficiency 12 56
Gsd Due to Muscle Phosphorylase Kinase Deficiency 12 56
Glycogen Storage Disease, Type Ixd 54 69
Glycogen Storage Disease Type Ixd 12 56
Glycogen Storage Disease Type Ixe 12 56
Glycogen Storage Disease Type 9d 12 56
Glycogen Storage Disease Type 9e 12 56
Glycogen Storage Disease Ixd 12 66
Glycogen Storage Disease 9d 66 29
Glycogenosis Type Ixd 12 56
Glycogenosis Type Ixe 12 56
Glycogenosis Type 9d 12 56
Glycogenosis Type 9e 12 56
Gsd Type Ixd 12 56
Gsd Type Ixe 12 56
Gsd Type 9d 12 56
Gsd Type 9e 12 56
Gsd Ixd 12 66
Gsd9d 12 66
X-Linked Muscke Glycogenosis 12
X-Linked Muscle Glycogenosis 66

Characteristics:

Orphanet epidemiological data:

56
glycogen storage disease due to muscle phosphorylase kinase deficiency
Inheritance: Autosomal recessive,X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult; Age of death: normal life expectancy;

HPO:

32
muscle glycogenosis:
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

OMIM 54 300559
Disease Ontology 12 DOID:0111040
ICD10 33 E74.0
Orphanet 56 ORPHA715
ICD10 via Orphanet 34 E74.0
MedGen 40 C1845151
MeSH 42 D006008

Summaries for Muscle Glycogenosis

OMIM : 54 Glycogen storage disease type IXd is an X-linked recessive, relatively mild metabolic disorder characterized by... (300559) more...

MalaCards based summary : Muscle Glycogenosis, also known as muscle phosphorylase kinase deficiency, is related to phosphorylase kinase deficiency of liver and muscle, autosomal recessive and phka1-related phosphorylase kinase deficiency, and has symptoms including muscle weakness, exercise-induced myalgia and elevated serum creatine phosphokinase. An important gene associated with Muscle Glycogenosis is PHKA1 (Phosphorylase Kinase Regulatory Subunit Alpha 1), and among its related pathways/superpathways are fMLP Pathway and Regulation of lipid metabolism Insulin signaling-generic cascades. The drugs Pharmaceutical Solutions and Clenbuterol have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, and related phenotype is Decreased viability.

Disease Ontology : 12 A glycogen storage disease IX characterized by X-linked inheritance of variable exercise-induced muscle weakness or stiffness that has material_basis_in mutation in the PHKA1 gene on chromosome Xq13.

UniProtKB/Swiss-Prot : 66 Glycogen storage disease 9D: A metabolic disorder characterized by slowly progressive, predominantly distal muscle weakness and atrophy. Clinical features include exercise intolerance with early fatigability, pain, cramps and occasionally myoglobinuria.

Related Diseases for Muscle Glycogenosis

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

(show all 11)
id Related Disease Score Top Affiliating Genes
1 phosphorylase kinase deficiency of liver and muscle, autosomal recessive 11.5
2 phka1-related phosphorylase kinase deficiency 11.2
3 glycogen storage disease, type ixa1 10.9
4 anuria 10.1 PHKA2 PYGM
5 cardiomyopathy 9.8
6 hemangioma 9.8 PHKA1 PHKA2 PHKB PYGM
7 ischemia 9.7
8 myopathy 9.7
9 phosphorylase kinase deficiency 9.7
10 rasa1-related disorders 9.6 NEK3 PHKA1 PHKA2 PHKB PHKG1
11 mental retardation, x-linked 100 8.3 DGUOK NEK3 PGM1 PHKA1 PHKA1P1 PHKA2

Graphical network of the top 20 diseases related to Muscle Glycogenosis:



Diseases related to Muscle Glycogenosis

Symptoms & Phenotypes for Muscle Glycogenosis

Symptoms by clinical synopsis from OMIM:

300559

Clinical features from OMIM:

300559

Human phenotypes related to Muscle Glycogenosis:

32 (show all 7)
id Description HPO Frequency HPO Source Accession
1 muscle weakness 32 HP:0001324
2 exercise-induced myalgia 32 HP:0003738
3 elevated serum creatine phosphokinase 32 HP:0003236
4 skeletal muscle atrophy 32 HP:0003202
5 exercise intolerance 32 HP:0003546
6 exercise-induced myoglobinuria 32 HP:0008305
7 exercise-induced muscle stiffness 32 HP:0008967

UMLS symptoms related to Muscle Glycogenosis:


muscle weakness, exercise-induced myalgia

GenomeRNAi Phenotypes related to Muscle Glycogenosis according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 10.62 PHKA2 PHKA1 DGUOK NEK3
2 Decreased viability GR00221-A-2 10.62 PHKB PHKA2 PHKG1 PHKA1 DGUOK
3 Decreased viability GR00221-A-3 10.62 PHKB PHKA2 PHKG1 PHKA1
4 Decreased viability GR00221-A-4 10.62 PHKB PHKA2 PHKG1 PHKA1 NEK3
5 Decreased viability GR00342-S-1 10.62 PHKA2
6 Decreased viability GR00342-S-2 10.62 PHKA2 DGUOK
7 Decreased viability GR00342-S-3 10.62 PHKA2 PHKG1 DGUOK
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-109 10.09 PHKG1
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 10.09 PHKB
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-165 10.09 PHKG1
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-181 10.09 PHKB
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-27 10.09 PHKB
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-33 10.09 PHKB
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-40 10.09 PHKG1
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-55 10.09 PHKB
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-60 10.09 PHKB PHKG1 PGM1
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-61 10.09 PHKG1
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-68 10.09 PGM1
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-75 10.09 PGM1
20 Decreased shRNA abundance (Z-score < -2) GR00366-A-86 10.09 PGM1
21 Decreased shRNA abundance (Z-score < -2) GR00366-A-87 10.09 PGM1
22 Decreased shRNA abundance (Z-score < -2) GR00366-A-89 10.09 PHKB
23 Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation GR00016-A 8.92 PGM1 PHKA1 PHKA2 PHKB

Drugs & Therapeutics for Muscle Glycogenosis

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

(show top 50) (show all 76)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Pharmaceutical Solutions Phase 3,Phase 1
2
Clenbuterol Approved, Vet_approved Phase 1, Phase 2 37148-27-9 2783
3
Valproic Acid Approved, Investigational Phase 2 99-66-1 3121
4 Adrenergic Agents Phase 1, Phase 2
5 Adrenergic Agonists Phase 1, Phase 2
6 Adrenergic beta-Agonists Phase 1, Phase 2
7 Anti-Asthmatic Agents Phase 1, Phase 2
8 Autonomic Agents Phase 1, Phase 2
9 Bronchodilator Agents Phase 1, Phase 2
10 Neurotransmitter Agents Phase 1, Phase 2, Early Phase 1
11 Peripheral Nervous System Agents Phase 1, Phase 2
12 Respiratory System Agents Phase 1, Phase 2
13 Anticonvulsants Phase 2,Early Phase 1
14 Antimanic Agents Phase 2
15 Central Nervous System Depressants Phase 2,Phase 1
16 GABA Agents Phase 2
17 Psychotropic Drugs Phase 2
18 Tranquilizing Agents Phase 2
19
Miglustat Approved Phase 1 72599-27-0 51634
20
Benzocaine Approved Phase 1 1994-09-7, 94-09-7 2337
21
Acetaminophen Approved Phase 1 103-90-2 1983
22
Diphenhydramine Approved Phase 1 58-73-1, 147-24-0 3100
23
Everolimus Approved Phase 1 159351-69-6 6442177
24
Histamine Approved, Investigational Phase 1 75614-87-8, 51-45-6 774
25
Lidocaine Approved, Vet_approved Phase 1 137-58-6 3676
26
Miconazole Approved, Investigational, Vet_approved Phase 1 22916-47-8 4189
27
Promethazine Approved Phase 1 60-87-7 4927
28
rituximab Approved Phase 1 174722-31-7 10201696
29
Sirolimus Approved, Investigational Phase 1 53123-88-9 5284616 6436030 46835353
30 tannic acid Approved, Nutraceutical Phase 1
31
1-Deoxynojirimycin Experimental Phase 1 19130-96-2 1374
32 Adrenergic beta-2 Receptor Agonists Phase 1
33 Albuterol Phase 1
34 Tocolytic Agents Phase 1
35 Antibodies Phase 1
36 Anti-HIV Agents Phase 1
37 Anti-Infective Agents Phase 1
38 Anti-Retroviral Agents Phase 1
39 Antiviral Agents Phase 1
40 Cardiac Glycosides Phase 1
41 Glycoside Hydrolase Inhibitors Phase 1
42 Hypoglycemic Agents Phase 1
43 Immunoglobulins Phase 1
44 Analgesics Phase 1
45 Analgesics, Non-Narcotic Phase 1
46 Anesthetics Phase 1
47 Anesthetics, Local Phase 1
48 Anti-Allergic Agents Phase 1
49 Anti-Arrhythmia Agents Phase 1
50 Anti-Bacterial Agents Phase 1

Interventional clinical trials:

(show top 50) (show all 61)
id Name Status NCT ID Phase
1 CPAP for Infantile Pompe Disease Unknown status NCT02405624 Phase 4
2 Exploratory Muscle Biopsy Assessment Study in Patients With Late-Onset Pompe Disease Treated With Alglucosidase Alfa Completed NCT01288027 Phase 4
3 Late-Onset Treatment Study Extension Protocol Completed NCT00455195 Phase 4
4 High Dose or High Dose Frequency Study of Alglucosidase Alfa Completed NCT00483379 Phase 4
5 Growth and Development Study of Alglucosidase Alfa. Active, not recruiting NCT00486889 Phase 4
6 A Placebo-Controlled Study of Safety and Effectiveness of Myozyme (Alglucosidase Alfa) in Patients With Late-Onset Pompe Disease Completed NCT00158600 Phase 3
7 Safety and Effectiveness Study of rhGAA in Patients With Advanced Late-Onset Pompe Disease Receiving Respiratory Support Completed NCT00268944 Phase 3
8 A Study of the Safety and Efficacy of rhGAA in Patients With Infantile-onset Pompe Disease Completed NCT00059280 Phase 2, Phase 3
9 Extension Study of Patients With Infantile-Onset Pompe Disease Who Were Previously Enrolled in Protocol AGLU01602 Completed NCT00125879 Phase 2, Phase 3
10 Study to Compare the Efficacy and Safety of Enzyme Replacement Therapies neoGAA and Alglucosidase Alfa Administered Every Other Week in Patients With Late-onset Pompe Disease Who Have Not Been Previously Treated for Pompe Disease Recruiting NCT02782741 Phase 3
11 NeoGAA Extension Study Enrolling by invitation NCT02032524 Phase 2, Phase 3
12 A Study of the Safety and Pharmacokinetics of rhGAA in Siblings With Glycogen Storage Disease Type II Completed NCT00051935 Phase 2
13 Safety Study of Recombinant Adeno-Associated Virus Acid Alpha-Glucosidase to Treat Pompe Disease Completed NCT00976352 Phase 1, Phase 2
14 A Study of rhGAA in Patients With Late-Onset Pompe Disease Completed NCT00250939 Phase 2
15 rhGAA in Patients With Infantile-onset Glycogen Storage Disease-II (Pompe Disease) Completed NCT00053573 Phase 1, Phase 2
16 Safety and Efficacy of Recombinant Human Acid Alpha-Glucosidase in the Treatment of Classical Infantile Pompe Disease Completed NCT00025896 Phase 2
17 Drug-drug Interaction Study Completed NCT01380743 Phase 2
18 Safety and Efficacy of Clenbuterol on Motor Function in Individuals With Late-onset Pompe Disease and Receiving Enzyme Replacement Therapy Completed NCT01942590 Phase 1, Phase 2
19 VAL-1221 Delivered Intravenously in Ambulatory and Ventilator-free Patients With Late-Onset Pompe Disease Recruiting NCT02898753 Phase 1, Phase 2
20 Sodium Valproate for GSDV Active, not recruiting NCT03112889 Phase 2
21 A Study of Repiratory Muscle Strength in Patients With Late-onset Pompe Disease (LOPD) Terminated NCT02191917 Phase 2
22 High Protein and Exercise Therapy Plus Nocturnal Enteral Feeding in Juvenile-onset Pompe Disease Withdrawn NCT01656590 Phase 2
23 Albuterol in Individuals With Late Onset Pompe Disease (LOPD) Completed NCT01859624 Phase 1
24 Safety and Efficacy Evaluation of Repeat neoGAA Dosing in Late Onset Pompe Disease Patients. Completed NCT01898364 Phase 1
25 A Pilot Study of Zavesca® in Patients With Pompe Disease and Infusion Associated Reaction Recruiting NCT02185651 Phase 1
26 Re-administration of Intramuscular AAV9 in Patients With Late-Onset Pompe Disease Not yet recruiting NCT02240407 Phase 1
27 Prospective Follow-up of Patients With Glycogen Storage Disease Type III Unknown status NCT01563705
28 Detection of Pompe Disease in Adult Patients With Myopathies of Uncertain Origin or With Asymptomatic Hyper-CK-emia Unknown status NCT01482494
29 Expanded Access Use of Myozyme (Alglucosidase Alfa) in Patients With Infantile-onset Pompe Disease Approved for marketing NCT00074919
30 Alglucosidase Alfa Temporary Access Program Approved for marketing NCT00520143
31 Study of Glycogen Storage Disease and Associated Disorders Completed NCT00001342
32 Genetic and Family Studies of Inherited Muscle Diseases Completed NCT00001331
33 The Effects of Respiratory Muscle Strength Training (RMST) on Inspiratory and Expiratory Muscle Strength in Adults and Children With Pompe Disease Completed NCT01701154
34 Expanded Access Use of Myozyme (Alglucosidase Alfa) in Patients With Late-onset Pompe Disease Completed NCT00074932
35 A Prospective, Observational Study in Patients With Late-Onset Pompe Disease Completed NCT00077662
36 Pompe Prevalence Study in Patients With Muscle Weakness Without Diagnosis Completed NCT00830583
37 Screening Protocol to Evaluate Acid Alpha-Glucosidase (GAA) Activity and GAA Gene Mutations in Patients With Late Onset Pompe Disease Completed NCT00113035
38 Feasability and Interest of Screening for Infantile Pompe's Diseases at Birth Completed NCT02904395
39 Respiratory Muscle Training in L-Onset Pompe Disease (LOPD) Recruiting NCT02801539
40 A Natural History Study of Adult Onset Pompe Disease Using Muscle MRI Recruiting NCT01914536
41 Acute Nutritional Ketosis in GSD IIIa Recruiting NCT03011203
42 Energy Supplements to Improve Exercise Tolerance in Metabolic Myopathies Recruiting NCT02448667
43 Identification of Tongue Involvement in Late-Onset Pompe Disease Recruiting NCT02765828
44 Pompe Disease QMUS and EIM Recruiting NCT02742298
45 Dynamic Respiratory Muscle Function in Late-Onset Pompe Disease Recruiting NCT02354664
46 Muscle Response to Enzyme Replacement Therapy in Pompe Disease Recruiting NCT00713453
47 A Pilot Study of Pyridostigmine in Pompe Disease Recruiting NCT02357225 Early Phase 1
48 Safety and Effectiveness of Resistance Exercise Training in Patients With Pompe Disease. Recruiting NCT02654886
49 Long-term Outcome in Late-onset Pompe Disease Treated Beyond 36 Months (ATBIG-Pompe-Study) Recruiting NCT02824068
50 Frequency of Pompe's Disease and Neuromuscular Etiologies in Patients With Restrictive Respiratory Failure Associated With Signs of Muscle Weakness Recruiting NCT02746718

Search NIH Clinical Center for Muscle Glycogenosis

Genetic Tests for Muscle Glycogenosis

Genetic tests related to Muscle Glycogenosis:

id Genetic test Affiliating Genes
1 Glycogen Storage Disease Ixd 29
2 Muscle Phosphorylase Kinase Deficiency 24

Anatomical Context for Muscle Glycogenosis

MalaCards organs/tissues related to Muscle Glycogenosis:

39
Skeletal Muscle

Publications for Muscle Glycogenosis

Articles related to Muscle Glycogenosis:

(show all 18)
id Title Authors Year
1
Muscle glycogenosis due to phosphoglucomutase 1 deficiency. ( 19625727 )
2009
2
Phosphofructo-1-kinase deficiency leads to a severe cardiac and hematological disorder in addition to skeletal muscle glycogenosis. ( 19696889 )
2009
3
Glycogen synthase (GYS1) mutation causes a novel skeletal muscle glycogenosis. ( 18358695 )
2008
4
Muscle glycogenosis with low phosphorylase kinase activity: mutations in PHKA1, PHKG1 or six other candidate genes explain only a minority of cases. ( 12825073 )
2003
5
Muscle glycogenosis and mitochondrial hepatopathy in an infant with mutations in both the myophosphorylase and deoxyguanosine kinase genes. ( 14568816 )
2003
6
Fetal-onset severe skeletal muscle glycogenosis associated with phosphorylase-b kinase deficiency. ( 10832587 )
2000
7
Low-rate nerve stimulation during regional ischemia in the diagnosis of muscle glycogenosis. ( 8941265 )
1996
8
Human muscle glycogenosis due to phosphorylase kinase deficiency associated with a nonsense mutation in the muscle isoform of the alpha subunit. ( 7874115 )
1994
9
Muscle glycogenosis. ( 2122112 )
1990
10
Genetic aspects of muscle glycogenosis. ( 2500668 )
1989
11
Persistent elevation of transaminases as the presenting finding in an adolescent with an unsuspected muscle glycogenosis. ( 3478168 )
1987
12
The pathology of type II skeletal muscle glycogenosis. A light and electron-microscopic study. ( 172619 )
1975
13
Skeletal muscle glycogenosis type II: biochemical and electron microscopic investigations of one case. ( 4112649 )
1972
14
Activities of glycogen synthetase and UDPG-pyrophosphorylase in muscle of a patient with a new type of muscle glycogenosis caused by phosphofructokinase deficiency. ( 21090428 )
1966
15
Muscle glycogenosis. ( 4226180 )
1966
16
Glycogenic myopathy. A case of skeletal muscle-glycogenosis in twins. ( 4232619 )
1965
17
SKELETAL MUSCLE GLYCOGENOSIS IN INDENTICAL TWINS. ( 14173855 )
1964
18
Skeletal muscle glycogenosis: an investigation of two dissimilar cases. ( 13981250 )
1963

Variations for Muscle Glycogenosis

UniProtKB/Swiss-Prot genetic disease variations for Muscle Glycogenosis:

66
id Symbol AA change Variation ID SNP ID
1 PHKA1 p.Asp299Val VAR_020856 rs137852547

ClinVar genetic disease variations for Muscle Glycogenosis:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 PHKA1 NM_002637.3(PHKA1): c.3334G> T (p.Glu1112Ter) single nucleotide variant Pathogenic rs137852546 GRCh37 Chromosome X, 71802412: 71802412
2 PHKA1 PHKA1, IVSL, G-C, +1 single nucleotide variant Pathogenic
3 PHKA1 NM_002637.3(PHKA1): c.896A> T (p.Asp299Val) single nucleotide variant Pathogenic rs137852547 GRCh37 Chromosome X, 71877460: 71877460
4 PHKA1 PHKA1, 1-BP DEL, 695C deletion Pathogenic
5 PHKA1 NM_002637.3(PHKA1): c.667G> A (p.Gly223Arg) single nucleotide variant Pathogenic rs137852548 GRCh37 Chromosome X, 71887275: 71887275

Expression for Muscle Glycogenosis

Search GEO for disease gene expression data for Muscle Glycogenosis.

Pathways for Muscle Glycogenosis

Pathways related to Muscle Glycogenosis according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.55 PHKA1 PHKA2 PHKB PHKG1
2
Show member pathways
12.54 PHKA1 PHKA2 PHKB PHKG1 PYGM
3
Show member pathways
12.48 PGM1 PHKA1 PHKA2 PHKB PHKG1 PYGM
4
Show member pathways
12.21 PGM1 PHKA1 PHKA2 PHKB PHKG1 PYGM
5
Show member pathways
12.11 PHKA1 PHKA2 PHKG1
6
Show member pathways
11.89 PHKA1 PHKA2 PHKB PHKG1
7 11.37 PHKA1 PHKA2 PHKB PHKG1 PYGM
8 10.66 PGM1 PHKA1 PHKA2 PHKB PHKG1 PYGM

GO Terms for Muscle Glycogenosis

Cellular components related to Muscle Glycogenosis according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 phosphorylase kinase complex GO:0005964 8.92 PHKA1 PHKA2 PHKB PHKG1

Biological processes related to Muscle Glycogenosis according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 protein phosphorylation GO:0006468 9.73 DGUOK NEK3 PHKA1 PHKA2 PHKB PHKG1
2 carbohydrate metabolic process GO:0005975 9.63 PGM1 PHKA1 PHKA2 PHKB PHKG1 PYGM
3 generation of precursor metabolites and energy GO:0006091 9.5 PHKA1 PHKA2 PHKB
4 glycogen biosynthetic process GO:0005978 9.37 PGM1 PHKG1
5 glycogen metabolic process GO:0005977 9.35 PHKA1 PHKA2 PHKB PHKG1 PYGM
6 glycogen catabolic process GO:0005980 9.1 PGM1 PHKA1 PHKA2 PHKB PHKG1 PYGM

Molecular functions related to Muscle Glycogenosis according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 calmodulin binding GO:0005516 9.26 PHKA1 PHKA2 PHKB PHKG1
2 phosphorylase kinase activity GO:0004689 8.92 PHKA1 PHKA2 PHKB PHKG1

Sources for Muscle Glycogenosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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