A prevalent pathogenic GAMT mutation (c.59G>C) in Portugal-Reference-Cited by-同舟云学术

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A prevalent pathogenic GAMT mutation (c.59G>C) in Portugal

Published:2007-05 Issue:1 Volume:91 Page:1-6
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Almeida L.S.,Vilarinho L.,Darmin P.S.,Rosenberg E.H.,Martinez-Muñoz C.,Jakobs C.,Salomons G.S.

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference20 articles.

1. Creatine deficiency in the brain: a new, treatable inborn error of metabolism;Stöckler;Pediatr. Res.,1994

2. Guanidinoacetate methyltransferase deficiency: the first inborn error of creatine metabolism in man;Stöckler;Am. J. Hum. Genet.,1996

3. Characterization of seven novel mutations in seven patients with GAMT deficiency;Item;Hum. Mutat.,2004

4. GAMT deficiency: features, treatment, and outcome in an inborn error of creatine synthesis;Mercimek-Mahmutoglu;Neurology,2006

5. Lack of creatine in muscle and brain in an adult with GAMT deficiency;Schulze;Ann. Neurol.,2003

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1. An assessment of the value of deep neural networks in genetic risk prediction for surgically relevant outcomes;PLOS ONE;2024-07-15

2. ClinGen variant curation expert panel recommendations for classification of variants in GAMT, GATM and SLC6A8 for cerebral creatine deficiency syndromes;Molecular Genetics and Metabolism;2024-05

3. Intellectual Disability and Brain Creatine Deficit: Phenotyping of the Genetic Mouse Model for GAMT Deficiency;Genes;2021-08-02

4. Biochemical and behavioral phenotype of AGAT and GAMT deficient mice following long-term Creatine monohydrate supplementation;Metabolic Brain Disease;2017-08-14

5. Creatine Defects and Central Nervous System;Seminars in Pediatric Neurology;2016-11

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