Diiodothyropropionic Acid (DITPA) in the Treatment of MCT8 Deficiency-Reference-Cited by-同舟云学术

Diiodothyropropionic Acid (DITPA) in the Treatment of MCT8 Deficiency

Published:2012-12-01 Issue:12 Volume:97 Page:4515-4523
ISSN:0021-972X
Container-title:The Journal of Clinical Endocrinology & Metabolism
language:en
Short-container-title:

Author:

Verge Charles F.¹,Konrad Daniel²,Cohen Michal³,Di Cosmo Caterina⁴,Dumitrescu Alexandra M.⁴,Marcinkowski Teresa⁴,Hameed Shihab¹,Hamilton Jill³,Weiss Roy E.⁵,Refetoff Samuel⁵⁶

Affiliation:

1. Department of Endocrinology (C.F.V., S.H.), Sydney Children's Hospital, Randwick, and School of Women's and Children's Health, University of New South Wales, Sydney NSW 2031, Australia

2. Division of Diabetology and Endocrinology (D.K.), University Children's Hospital, CH-8032 Zurich, Switzerland

3. Division of Pediatric Endocrinology (M.C., J.H.), The Hospital for Sick Children, Toronto, Ontario, Canada M5G 1X8

4. Departments of Medicine (C.D.C., A.M.D., T.M., R.E.W., S.R.), Chicago, Illinois 60637

5. Pediatrics (R.E.W., S.R.), Chicago, Illinois 60637

6. the Committee on Genetics (S.R.), The University of Chicago, Chicago, Illinois 60637

Publisher

The Endocrine Society

Subject

Biochemistry (medical),Clinical Biochemistry,Endocrinology,Biochemistry,Endocrinology, Diabetes and Metabolism

Link

http://academic.oup.com/jcem/article-pdf/97/12/4515/9047066/jcem4515.pdf

Reference23 articles.

1. A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene.;Dumitrescu;Am J Hum Genet,2004

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

3. Identification of monocarboxylate transporter 8 as a specific thyroid hormone transporter.;Friesema;J Biol Chem,2003

4. Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene.;Schwartz;Am J Hum Genet,2005

5. Some examples of the inheritance of mental deficiency: apparently sex-linked idiocy and microcephaly.;Allan;Am J Ment Defic,1944

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