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Träfflista för sökning "WFRF:(Grueters A) "

Search: WFRF:(Grueters A)

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1.
  • Honour, JW, et al. (author)
  • Procedure for neonatal screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency
  • 2001
  • In: Hormone research. - : S. Karger AG. - 0301-0163. ; 55:4, s. 201-205
  • Journal article (peer-reviewed)abstract
    • The value of screening of neonates for congenital adrenal hyperplasia is not universally accepted. Procedures for screening are recommended here in order to provide a structure to the testing and ultimately bring together data that will allow the effect of screening to be judged for benefit or dismissed as no better than clinical recognition of the disease state.
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2.
  • Friesema, ECH, et al. (author)
  • Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation
  • 2004
  • In: The Lancet. - 1474-547X. ; 364:9443, s. 1435-1437
  • Journal article (peer-reviewed)abstract
    • Monocarboxylate transporter 8 (MCT8) is a thyroid hormone transporter, the gene of which is located on the X chromosome. We tested whether mutations in MCT8 cause severe psychomotor retardation and high serum triiodothyronine (T,) concentrations in five unrelated young boys. The coding sequence of MCT8 was analysed by PCR and direct sequencing of its six exons. In two patients, gene deletions of 2.4 kb and 24 kb were recorded and in three patients missense mutations Ala150Va1, Arg171stop, and Leu397Pro were identified. We suggest that this novel syndrome of X-linked psychomotor retardation is due to a defect in T-3 entry into neurons through MCT8, resulting in impaired T-3 action and metabolism.
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