Functional analysis of monocarboxylate transporter 8 mutations identified in patients with X-linked psychomotor retardation and elevated serum triiodothyronine

Journal of Clinical Endocrinology and Metabolism

Volumn 92, Issue 6, 2007, Pages 2378-2381

  Jansen, Jurgen ^a   Friesema, Edith C H ^a   Kester, Monique H A ^a   Milici, Carmelina ^a   Reeser, Maarten ^b   Grüters, Annette ^c   Barrett, Timothy G ^d   Mancilla, Edna E ^e   Svensson, Johan ^f   Wemeau, Jean Louis ^g   Canalli, Maria Heloisa Busi Da Silva ^h   Lundgren, Johan ^f   McEntagart, Meriel E ⁱ   Hopper, Neil ⁱ   Arts, Willem Frans ^a   Visser, Theo J ^a  

^a ERASMUS MEDICAL CENTER   (Netherlands)

^b JULIANA CHILDREN S HOSPITAL   (Netherlands)

^c HUMBOLDT UNIVERSITY   (Germany)

^d BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

^e UNIVERSITY OF CHILE   (Chile)

^f LUND UNIVERSITY HOSPITAL   (Sweden)

^g LILLE UNIVERSITY HOSPITAL   (France)

^h FEDERAL UNIVERSITY OF SANTA CATARINA   (Brazil)

ⁱ ST GEORGE S HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

LIOTHYRONINE; MONOCARBOXYLATE TRANSPORTER 8; THYROXINE DEIODINASE;

ARTICLE; CONTROLLED STUDY; GENE DELETION; GENE MUTATION; GENETIC TRANSFECTION; HORMONE METABOLISM; HORMONE TRANSPORT; HUMAN; HUMAN CELL; IMMUNOBLOTTING; IMMUNOHISTOCHEMISTRY; LIOTHYRONINE BLOOD LEVEL; MISSENSE MUTATION; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; WILD TYPE; X CHROMOSOME LINKED DISORDER;

EID: 34347216037     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2006-2570     Document Type: Article

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