Guanidinoacetate methyltransferase (GAMT) deficiency: Outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring-Reference-Cited by-同舟云学术

Guanidinoacetate methyltransferase (GAMT) deficiency: Outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring

Published:2014-01 Issue:1 Volume:111 Page:16-25
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Stockler-Ipsiroglu Sylvia,van Karnebeek Clara,Longo Nicola,Korenke G. Christoph,Mercimek-Mahmutoglu Saadet,Marquart Iris,Barshop Bruce,Grolik Christiane,Schlune Andrea,Angle Brad,Araújo Helena Caldeira,Coskun Turgay,Diogo Luisa,Geraghty Michael,Haliloglu Goknur,Konstantopoulou Vassiliki,Leuzzi Vincenzo,Levtova Alina,MacKenzie Jennifer^ORCID,Maranda Bruno^ORCID,Mhanni Aizeddin A.,Mitchell Grant,Morris Andrew,Newlove Theresa,Renaud Deborah,Scaglia Fernando,Valayannopoulos Vassili,van Spronsen Francjan J.,Verbruggen Krijn T.,Yuskiv Nataliya,Nyhan William,Schulze Andreas^ORCID

Funder

TIDE BC

Publisher

Elsevier BV

Subject

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

Reference36 articles.

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

2. Expanded clinical and molecular spectrum of guanidinoacetate methyltransferase (GAMT) deficiency;Dhar;Mol. Genet. Metab.,2009

3. Creatine replacement therapy in guanidinoacetate methyltransferase deficiency, a novel inborn error of metabolism;Stöckler;Lancet,1996

4. AGAT enzyme inhibition by high dose ornithine: a new approach in treatment of GAMT deficiency (abstract);Schulze;J. Inherit. Metab. Dis.,2005

5. Pre-symptomatic treatment of creatine biosynthesis defects;Schulze;Subcell. Biochem.,2007

Cited by 113 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Establishing a Core Outcome Set for Creatine Transporter Deficiency and Guanidinoacetate Methyltransferase Deficiency;2024-09-07

2. Severe Acute Motor Exacerbations (SAME) across Metabolic, Developmental and Genetic Disorders;Movement Disorders;2024-08-09

3. Liver gene transfer for metabolite detoxification in inherited metabolic diseases;FEBS Letters;2024-06-17

4. Rescue of myocytes and locomotion through AAV2/9-2YF intracisternal gene therapy in a rat model of creatine transporter deficiency;Molecular Therapy - Methods & Clinical Development;2024-06

5. 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