Identification, functional analysis, prevalence and treatment of monocarboxylate transporter 8 (MCT8) mutations in a cohort of adult patients with mental retardation-Reference-Cited by-同舟云学术

Identification, functional analysis, prevalence and treatment of monocarboxylate transporter 8 (MCT8) mutations in a cohort of adult patients with mental retardation

Published:2013-01-07 Issue:2 Volume:78 Page:310-315
ISSN:0300-0664
Container-title:Clinical Endocrinology
language:en
Short-container-title:Clin Endocrinol

Author:

Visser W. Edward¹,Vrijmoeth Paul²,Visser Frank E.³,Arts Willem Frans M.⁴,van Toor Hans¹,Visser Theo J.¹

Affiliation:

1. Department of Internal Medicine; Erasmus Medical Center; Rotterdam; The Netherlands

2. General Practitioner Baalderborg; Hardenberg; The Netherlands

3. ‘s Heeren Loo; Ermelo; The Netherlands

4. Department of Child Neurology; Sophia's Children Hospital; Rotterdam; The Netherlands

Publisher

Wiley

Subject

Endocrinology, Diabetes and Metabolism,Endocrinology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/cen.12023/fullpdf

Reference24 articles.

1. Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation;Friesema;Lancet,2004

2. A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene;Dumitrescu;American Journal of Human Genetics,2004

3. Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene;Schwartz;American Journal of Human Genetics,2005

4. Novel pathogenic mechanism suggested by ex vivo analysis of MCT8 (SLC16A2) mutations;Visser;Human Mutation,2009

5. Thyroid hormone transport in and out of cells;Visser;Trends in Endocrinology and Metabolism,2008

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