Screening for X-linked creatine transporter (SLC6A8) deficiency via simultaneous determination of urinary creatine to creatinine ratio by tandem mass-spectrometry-Reference-Cited by-同舟云学术

Screening for X-linked creatine transporter (SLC6A8) deficiency via simultaneous determination of urinary creatine to creatinine ratio by tandem mass-spectrometry

Published:2009-04 Issue:4 Volume:96 Page:273-275
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Mercimek-Mahmutoglu Saadet,Muehl Adolf,Salomons Gajja S.,Neophytou Birgit,Moeslinger Dorothea,Struys Eduard,Bodamer Olaf A.,Jakobs Cornelis,Stockler-Ipsiroglu Sylvia

Publisher

Elsevier BV

Subject

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

Reference10 articles.

1. Creatine deficiency syndromes;Stockler-Ipsiroglu,2006

2. X-linked creatine transporter defect: an overview;Salomons;J. Inherit. Metab. Dis.,2003

3. Creatine and guanidinoacetate: diagnostic markers for inborn errors in creatine biosynthesis and transport;Almeida;Mol. Genet. Metab.,2004

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

5. High prevalence of SLC6A8 deficiency in X-linked mental retardation;Rosenberg;Am. J. Hum. Genet.,2004

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5. The Creatine Transporter Unfolded: A Knotty Premise in the Cerebral Creatine Deficiency Syndrome;Frontiers in Synaptic Neuroscience;2020-10-23