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Monoallelic thyroid peroxidase gene mutation in a patient with congenital hypothyroidism with total iodide organification defectMutação monoalélica no gene da tireoperoxidase em paciente com hipotireoidismo congênito com defeito total de incorporação de iodeto
(Sociedade Brasileira de Endocrinologia e Metabologia, 2010-11)
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 ...
Five novel inactivating mutations in the thyroid peroxidase gene responsible for congenital goiter and iodide organification defect
(Veterinary and Human Toxicology, 2003-12)
Thyroid peroxidase (TPO) defects, typically transmitted as autosomal recessive traits, result in hypothyroid goiters with failure to convert iodide into organic iodine. We analyzed the TPO gene in 14 unrelated patients ...
Monoallelic thyroid peroxidase gene mutation in a patient with congenital hypothyroidism with total iodide organification defect
(Sociedade Brasileira de Endocrinologia e Metabologia, 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 ...
Kinetic characterization of human thyroperoxidase. Normal and pathological enzyme expression in Baculovirus System: A molecular model of functional expression
(Elsevier Ireland, 2015-03)
BACKGROUND: Human thyroperoxidase (hTPO) is a membrane-bound glycoprotein located at the apical membrane of the thyroid follicular cells which catalyzes iodide oxidation and organification in the thyroglobulin (TG) tyrosine ...
Three mutations (p.Q36H, p.G418fsX482, and g.IVS19-2A>C) in the dual oxidase 2 gene responsible for congenital goiter and iodide organification defect
(Oxford University Press, 2006-02)
Background: Iodide organisation defects are associated with mutations in the dual oxidase 2 (DUOX2) gene and are characterized by a positive perchlorate discharge test. These mutations produce a congenital goitrous ...
A novel mutation in the TPO gene in goitrous hypothyroid patients with iodide organification defect
(Blackwell Science LtdOxfordInglaterra, 1999)
Monoallelic thyroid peroxidase gene mutation in a patient with congenital hypothyroidism with total iodide organification defect
(Sociedade Brasileira de Endocrinologia e Metabologia, 2010-11-01)
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 ...
DYSHORMONOGENETIC GOITER - A MORPHOLOGICAL AND IMMUNOHISTOCHEMICAL STUDY
(Humana Press IncTotowa, 1994)
Avaliação funcional de mutações no gene da tireoperoxidase identificadas em pacientes com hipotireoidismo congenito por disormonogênese
(Universidade Federal de São Paulo (UNIFESP), 2016-08-30)
Congenital hypothyroidism (CH) is the most common cause of mental retardation that can be prevented with early treatment, with frequency of 1/2500 birth. CH can be caused by defects in the development of thyroid (dysgenesis) ...