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Monoallelic thyroid peroxidase gene mutation in a patient with congenital hypothyroidism with total iodide organification defect

Autor: Neves, Solange Caires, Mezalira, Paola Rossi, Dias, Vera M. A., Chagas, Antonio J., Viana, Maria, Targovnik, Hector, Knobel, Meyer, Medeiros-Neto, Geraldo, Rubio, Ileana G. S.

Publikováno v: Arquivos Brasileiros de Endocrinologia & Metabologia v.54 n.8 2010
Arquivos Brasileiros de Endocrinologia & Metabologia
Sociedade Brasileira de Endocrinologia e Metabologia (SBEM)
instacron:SBEM
Arquivos Brasileiros de Endocrinologia & Metabologia, Volume: 54, Issue: 8, Pages: 732-737, Published: NOV 2010

The aim of this study was to identify the genetic defect of a patient with dyshormonogenetic congenital hypothyroidisms (CH) with total iodide organification defect (TIOD). A male child diagnosed with CH during neonatal screening. Laboratory tests co

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::76b999603e3f503625d26a51f6f07588
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27302010000800012

A molecular analysis and long-term follow-up of two siblings with severe congenital hypothyroidism carrying the IVS30+1G>T intronic thyroglobulin mutation

Autor: Rubio, Ileana G. S., Galrao, Ana Luiza, Pardo, Viviane, Knobel, Meyer, Possato, Roberta F., Camargo, Rosalinda R. Y., Ferreira, Marcelo A., Kanamura, Cristina T., Gomes, Simone A., Medeiros-Neto, Geraldo

Publikováno v: Arquivos Brasileiros de Endocrinologia & Metabologia, Volume: 52, Issue: 8, Pages: 1337-1344, Published: NOV 2008

OBJECTIVE: To extend the molecular analysis of the IVS30+1G>T intronic thyroglobulin (TG) mutation, and to report the eleven year follow-up of the affected patients. METHOSD: Two siblings with severe congenital hypothyroidism with fetal and neonatal

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______608::ad9912334c7a23675a2c6dc83712537f
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27302008000800022&lng=en&tlng=en

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