Prospective identification by neonatal screening of patients with guanidinoacetate methyltransferase deficiency-Reference-Cited by-同舟云学术

Prospective identification by neonatal screening of patients with guanidinoacetate methyltransferase deficiency

Published:2021-09 Issue:1-2 Volume:134 Page:60-64
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Hart Kim,Rohrwasser Andreas,Wallis Heidi,Golsan Heather,Shao Jianyin,Anderson Taylor,Wang Xiaoli,Szabo-Fresnais Nicolas,Morrissey Mark,Kay Denise M.,Wojcik Matthew,Galvin-Parton Patricia A.,Longo Nicola,Caggana Michele,Pasquali Marzia

Publisher

Elsevier BV

Subject

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

Reference26 articles.

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4. Guanidinoacetate methyltransferase (GAMT) deficiency: outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring;Stockler-Ipsiroglu;Mol. Genet. Metab.,2014

5. Laboratory diagnosis of creatine deficiency syndromes: a technical standard and guideline of the American College of Medical Genetics and Genomics;Sharer;Genet Med.,2017

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3. Electro-clinical features and long-term outcomes in guanidinoacetate methyltransferase (GAMT) deficiency;European Journal of Paediatric Neurology;2024-03

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