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An intramolecular ionic interaction linking defective sodium/iodide symporter transport to the plasma membrane and dyshormonogenic congenital hypothyroidism
(Mary Ann Liebert, 2022-01)
The sodium/iodide symporter (NIS) mediates active iodide accumulation in the thyroid follicular cell. Autosomal recessive iodide transport defect (ITD)-causing loss-of-function NIS variants lead to dyshormonogenic congenital ...
Novel sodium/Iodide symporter compound heterozygous pathogenic variants causing dyshormonogenic congenital hypothyroidism
(Mary Ann Liebert, 2019-07)
Iodide transport defect (ITD) is an autosomal recessive disorder caused by deficient iodide accumulation into the thyroid follicular cell. ITD is an uncommon cause of dyshormonogenetic congenital hypothyroidism that results ...
Análise das prevalências de doenças detectadas pelo programa nacional de triagem neonatal no município de Araraquara no ano de 2009
(2011-11-14)
The National Neonatal Screening Program (NNSP) set up in all Brazil, aims, through planned phases of local implementation, to detect diseases such as phenylketonuria, congenital hypothyroidism, hemoglobinopathies and cystic ...
Análise das prevalências de doenças detectadas pelo programa nacional de triagem neonatal no município de Araraquara no ano de 2009
(2011-11-14)
The National Neonatal Screening Program (NNSP) set up in all Brazil, aims, through planned phases of local implementation, to detect diseases such as phenylketonuria, congenital hypothyroidism, hemoglobinopathies and cystic ...
Atypicality in congenital hypothyroidism: Kocher-Debré-Semelaigne. Case reportAtipicidad en el hipotiroidismo congénito: síndrome de Kocher-Debré-Semelaigne. Reporte de caso
(Intituto Tecnológico de Santo Domingo (INTEC), 2022)
Congenital goitrous hypothyroidism: mutation analysis in the thyroid peroxidase gene
(Wiley Blackwell Publishing, Inc, 2012-04)
Background: Iodide organification defect (IOD) is characterized by a reduced ability of the thyroid gland to retain iodide resulting in hypothyroidism. Mutations in thyroid peroxidase (TPO) gene appear to be the most common ...
Zinc oxide nanoparticles based microfluidic immunosensor applied in congenital hypothyroidism screening
(Springer, 2014-06)
In this article, we present an innovative approach for congenital hypothyroidism (CHT) screening. This pathology is the most common preventable cause of mental retardation, affecting newborns around the world. Its consequences ...
Genetics and phenomics of hypothyroidism and goiter due to thyroglobulin mutations
(Elsevier Ireland, 2010-06)
Thyroglobulin (TG) defects due to TG gene mutations have an estimated incidence of approximately 1 in 100,000 newborns. This dyshormonogenesis displays a wide phenotype variation and is characterized usually by: the presence ...