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

Clinical Endocrinology

Volumn 78, Issue 2, 2013, Pages 310-315

  Visser, W Edward ^a   Vrijmoeth, Paul ^b   Visser, Frank E ^c   Arts, Willem Frans M ^d   Van Toor, Hans ^a   Visser, Theo J ^a  

^a ERASMUS MEDICAL CENTER   (Netherlands)

^b General Practitioner Baalderborg ^*  (Netherlands)

^c 's Heeren Loo Lozenoord   (Netherlands)

^d SOPHIA CHILDREN S HOSPITAL   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

3,3',5' TRIIODOTHYRONINE; LEVOTHYROXINE; LIOTHYRONINE; MONOCARBOXYLATE TRANSPORTER 8; PIPAMPERONE; PROPYLTHIOURACIL; THIAMAZOLE; THYROID HORMONE; THYROXINE;

ARTICLE; CLINICAL ARTICLE; DRUG SUBSTITUTION; DRUG WITHDRAWAL; FEMALE; FIBROBLAST; GENE MUTATION; HORMONE TRANSPORT; HUMAN; IN VITRO STUDY; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PATHOGENICITY; PRIORITY JOURNAL; THYROID HORMONE BLOOD LEVEL; UNSPECIFIED SIDE EFFECT; X LINKED MENTAL RETARDATION;

ADULT; BIOLOGICAL TRANSPORT; COHORT STUDIES; CROSS-SECTIONAL STUDIES; FEMALE; GENE EXPRESSION REGULATION; HUMANS; MALE; MENTAL RETARDATION, X-LINKED; MONOCARBOXYLIC ACID TRANSPORTERS; MUTATION; THYROXINE;

EID: 84870750730     PISSN: 03000664     EISSN: 13652265     Source Type: Journal    
DOI: 10.1111/cen.12023     Document Type: Article

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