Diiodothyropropionic acid (DITPA) in the treatment of MCT8 deficiency

Monocarboxylate transporter 8 (MCT8) is a thyroid hormone-specific cell membrane transporter. MCT8 deficiency causes severe psychomotor retardation and abnormal thyroid tests. The great majority of affected children cannot walk or talk, and all have elevated serum T(3) levels, causing peripheral tis...

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Podrobná bibliografie
Vydáno v:	The journal of clinical endocrinology and metabolism Ročník 97; číslo 12; s. 4515
Hlavní autoři:	Verge, Charles F, Konrad, Daniel, Cohen, Michal, Di Cosmo, Caterina, Dumitrescu, Alexandra M, Marcinkowski, Teresa, Hameed, Shihab, Hamilton, Jill, Weiss, Roy E, Refetoff, Samuel
Médium:	Journal Article
Jazyk:	angličtina
Vydáno:	United States 01.12.2012
Témata:	Brain - drug effects Brain - growth & development Cardiotonic Agents - therapeutic use Child Development - drug effects Child, Preschool Compassionate Use Trials Diiodothyronines - therapeutic use Diseases in Twins - blood Diseases in Twins - drug therapy Diseases in Twins - physiopathology Humans Infant Male Mental Retardation, X-Linked - blood Mental Retardation, X-Linked - drug therapy Mental Retardation, X-Linked - physiopathology Monocarboxylic Acid Transporters - deficiency Multicenter Studies as Topic Muscle Hypotonia - blood Muscle Hypotonia - drug therapy Muscle Hypotonia - physiopathology Muscular Atrophy - blood Muscular Atrophy - drug therapy Muscular Atrophy - physiopathology Propionates - therapeutic use Psychomotor Performance - drug effects Psychomotor Performance - physiology Thyroid Function Tests
ISSN:	1945-7197, 1945-7197
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