Expanding the neuroimaging findings of guanidinoacetate methyltransferase deficiency in an Iranian girl with a homozygous frameshift variant in the GAMT
PMID: 36633690 Gene: GAMT Disease: GAMT deficiency Inheritance: Autosomal Recessive
17 Matching Annotations
- Jun 2025
-
link.springer.com link.springer.com
-
- Oct 2024
-
pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
-
Guanidinoacetate Methyltransferase Deficiency: The First InbornError of Creatine Metabolism in Man
PMID: 8651275
Gene: GAMT
Disease: GAMT deficiency
Inheritance: Autosomal Recessive
-
- Dec 2022
-
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
-
Inborn errors of creatine metabolism and epilepsy: clinical features, diagnosis, and treatment
PMID: 12597058
Gene: GAMT
Disease:GAMT deficiency
Inheritance:Autosomal Recessive
-
-
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
-
Biochemical and clinical characteristics of creatine deficiency syndromes
PMID: 15625559
Gene:GAMT
Disease:GAMT deficiency
Inheritance: Autosomal Recessive
-
-
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
-
Diagnostic enzyme assay that uses stable-isotope-labeled substrates to detect L-arginine:glycine amidinotransferase deficiency
PMID: 12709373
Gene: GAMT
Disease:GAMT deficiency
Inheritance: Autosomal Recessive
-
-
www.sciencedirect.com www.sciencedirect.com
-
l-arginine:glycine amidinotransferase (AGAT) deficiency: clinical presentation and response to treatment in two patients with a novel mutation
PMID: 20682460 Gene: GAMT Disease: GAMT deficiency Inheritance: X-linked
-
- Nov 2022
-
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
-
Clinical characteristics and diagnostic clues in inborn errors of creatine metabolism
PMID: 12889668<br /> Gene: GAMT Disease: GAMT deficiency Inheritance: X-linked
-
-
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
-
Presence of guanidinoacetate may compensate creatine absence and account for less statin-induced muscle damage in GAMT-deficient compared to AGAT-deficient mice
PMID: 32172372 Gene: GAMT Disease: GAMT deficiency Inheritance: X-linked
-
-
www.sciencedirect.com www.sciencedirect.com
-
LC-MS/MS measurements of urinary guanidinoacetic acid and creatine: Method optimization by deleting derivatization step
PMID: 30858092 Gene: GAMT Disease: GAMT deficiency Inheritance: X-linked
-
-
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
-
Benefits and drawbacks of guanidinoacetic acid as a possible treatment to replenish cerebral creatine in AGAT deficiency
PMID: 28971744 Gene: GAMT Disease: GAMT deficiency Inheritance: X-linked
-
-
academic.oup.com academic.oup.com
-
l-arginine:glycine amidinotransferase deficiency protects from metabolic syndrome
PMID: 23026748 Gene: GAMT Disease: GAMT deficiency Inheritance: X-linked
-
-
www.pedneur.com www.pedneur.com
-
Case Study for the Evaluation of Current Treatment Recommendations of Guanidinoacetate Methyltransferase Deficiency: Ineffectiveness of Sodium Benzoate
PMID: 24766785
Gene: GAMT
Disease: GAMT deficiency
Inheritance: X-linked
-
- Oct 2022
-
onlinelibrary.wiley.com onlinelibrary.wiley.com
-
Clinical characteristics and diagnostic cluesin inborn errors of creatine metabolism
Title annotation
PMID: 12889668
Gene: GAMT
Disease: GAMT deficiency
Inheritance: Autosomal Recessive NO EVIDENCE
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Adult GAMT deficiency: A literature review and report of two siblings
PMID: 33996490
Gene: GAMT
Disease: GAMT deficiency
Inheritance: Autosomal Recessive
-
-
pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
-
Pre-symptomatic treatment of creatine biosynthesis defects
PMID: 18652077 Gene: GAMT Disease:GAMT deficiency Inheritance:Autosomal Recessive
Not accessible
Tags
Annotators
URL
-
-
bmcpregnancychildbirth.biomedcentral.com bmcpregnancychildbirth.biomedcentral.com
-
Increased creatine demand during pregnancy in Arginine: Glycine Amidino-Transferase deficiency: a case report
PMID: 32883247 Gene: GAMT Disease: GAMT deficiency Inheritance: X-linked
-
-
www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
-
Guanidinoacetic acid deficiency: a new entity in clinical medicine?
PMID: 33029096 Gene: GAMT Disease: GAMT deficiency Inheritance: X-linked
-