A new case of creatine transporter deficiency associated with mild clinical phenotype and a novel mutation in the SLC6A8 gene-Reference-Cited by-同舟云学术

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A new case of creatine transporter deficiency associated with mild clinical phenotype and a novel mutation in the SLC6A8 gene

Published:2009-11-30 Issue:2 Volume:52 Page:215-217
ISSN:0012-1622
Container-title:Developmental Medicine & Child Neurology
language:en
Short-container-title:

Author:

Alcaide Patricia,Rodriguez-Pombo Pilar,Ruiz-Sala Pedro,Ferrer Isaac,Castro Pedro,Ruiz Martin Yolanda,Merinero Begoña,Ugarte Magdalena

Publisher

Wiley

Subject

Clinical Neurology,Developmental Neuroscience,Pediatrics, Perinatology, and Child Health

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1469-8749.2009.03480.x/fullpdf

Reference15 articles.

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

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

3. Are cerebral creatine deficiency syndromes on the radar screen?;Almeida;Future Neurol,2006

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

5. X-linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology;Clark;Hum Genet,2006

Cited by 13 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. Experimental and Computational Analysis of Newly Identified Pathogenic Mutations in the Creatine Transporter SLC6A8;Journal of Molecular Biology;2024-01

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

3. A Treatable Cause of Intellectual Disability and Autism in a Young Child;The Indian Journal of Pediatrics;2020-03-24

4. Relax, Cool Down and Scaffold: How to Restore Surface Expression of Folding-Deficient Mutant GPCRs and SLC6 Transporters;International Journal of Molecular Sciences;2017-11-14

5. Down-Regulation of the Na+,Cl- Coupled Creatine Transporter CreaT (SLC6A8) by Glycogen Synthase Kinase GSK3ß;Cellular Physiology and Biochemistry;2016

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