ClinGen variant curation expert panel recommendations for classification of variants in GAMT, GATM and SLC6A8 for cerebral creatine deficiency syndromes-Reference-Cited by-同舟云学术

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ClinGen variant curation expert panel recommendations for classification of variants in GAMT, GATM and SLC6A8 for cerebral creatine deficiency syndromes

Published:2024-05 Issue:1 Volume:142 Page:108362
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Goldstein Jennifer,Thomas-Wilson Amanda,Groopman Emily,Aggarwal Vimla,Bianconi Simona,Fernandez Raquel,Hart Kim,Longo Nicola,Liang Nicole,Reich Daniel,Wallis Heidi,Weaver Meredith,Young Sarah,Mercimek-Andrews Saadet

Funder

National Institutes of Health

National Human Genome Research Institute

Eunice Kennedy Shriver National Institute of Child Health and Human Development

Publisher

Elsevier BV

Reference42 articles.

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

2. Arginine:Glycine amidinotransferase deficiency: the third inborn error of creatine metabolism in humans;Item;Am. J. Hum. Genet.,2001

3. X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome;Salomons;Am. J. Hum. Genet.,2001

4. Creatine and creatinine metabolism;Wyss;Physiol. Rev.,2000

5. Creatine Deficiency Disorders;Mercimek-Andrews,2009

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