Functional assessment of creatine transporter in control and X-linked SLC6A8-deficient fibroblasts-Reference-Cited by-同舟云学术

Functional assessment of creatine transporter in control and X-linked SLC6A8-deficient fibroblasts

Published:2018-04 Issue:4 Volume:123 Page:463-471
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Joncquel-Chevalier Curt Marie,Bout Marie-Adélaïde,Fontaine Monique,Kim Isabelle,Huet Guillemette,Bekri Soumeya,Morin Gilles,Moortgat Stéphanie,Moerman Alexandre,Cuisset Jean-Marie,Cheillan David,Vamecq Joseph

Publisher

Elsevier BV

Subject

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

Reference49 articles.

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

3. X-linked creatine transporter defect: a report on two unrelated boys with a severe clinical phenotype;Anselm;J. Inherit. Metab. Dis.,2006

4. The clinical syndrome of creatine transporter deficiency;deGrauw;Mol. Cell Biochem.,2003

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

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