Thyroid function in PMM2-CDG: Diagnostic approach and proposed management

Molecular Genetics and Metabolism

Volumn 105, Issue 4, 2012, Pages 681-683

  Mohamed, Miski ^a   Theodore, Miranda ^a   Der Grinten, Hedi Claahsen van ^a   Van Herwaarden, Antonius E ^a   Huijben, Karin ^a   Van Dongen, Lotte ^a   Kouwenberg, Dorus ^a   Lefeber, Dirk J ^a   Wevers, Ron A ^a   Morava, Eva ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Free T4; Glycosylation; Hypothyroidism; Levothyroxine treatment; PMM2 CDG; TSH

Indexed keywords

LEVOTHYROXINE; PHOSPHOMANNOMUTASE; THYROTROPIN; THYROXINE;

ARTICLE; CALORIMETRY; CARDIOPULMONARY INSUFFICIENCY; CHILD; CLINICAL ARTICLE; CONGENITAL DISORDER OF GLYCOSYLATION; CONSTIPATION; DISEASE SEVERITY; ENERGY EXPENDITURE; FEMALE; HUMAN; HYPOALBUMINEMIA; HYPOTHYROIDISM; LOW TEMPERATURE; MALE; MYXEDEMA; NEWBORN SCREENING; PRIORITY JOURNAL; PROTEIN LOSING GASTROENTEROPATHY; SEPSIS; THYROID FUNCTION; THYROID FUNCTION TEST; THYROTROPIN BLOOD LEVEL; THYROXINE BLOOD LEVEL;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CONGENITAL DISORDERS OF GLYCOSYLATION; FEMALE; FOLLOW-UP STUDIES; GLYCOSYLATION; HUMANS; INFANT; INFANT, NEWBORN; LONGITUDINAL STUDIES; MALE; NEURAMINIDASE; PHOSPHOTRANSFERASES (PHOSPHOMUTASES); RETROSPECTIVE STUDIES; THYROID FUNCTION TESTS; THYROTROPIN; YOUNG ADULT;

EID: 84858702695     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2012.02.001     Document Type: Article

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