A Novel SLC5A5 Variant Reveals the Crucial Role of Kinesin Light Chain 2 in Thyroid Hormonogenesis.

Autor: Martín, Mariano, Modenutti, Carlos Pablo, Gil Rosas, Mauco Lucas, Peyret, Victoria, Geysels, Romina Celeste, Bernal Barquero, Carlos Eduardo, Sobrero, Gabriela, Muñoz, Liliana, Signorino, Malvina, Testa, Graciela, Miras, Mirta Beatriz, Masini-Repiso, Ana María, Calcaterra, Nora Beatriz, Coux, Gabriela, Carrasco, Nancy, Martí, Marcelo Adrián, Nicola, Juan Pablo

Publikováno v: Journal of Clinical Endocrinology & Metabolism; Jul2021, Vol. 106 Issue 7, p1867-1881, 15p

Congenital goitrous hypothyroidism: mutation analysis in the thyroid peroxidase gene

Autor: Belforte, Fiorella Sabrina, Miras, Mirta Beatriz, Olcese, María Cecilia, Sobrero, Gabriela Maria, Testa, Graciela, Franchioni de Muñoz, Noemi Liliana, Gruñeiro Papendieck, Laura, Chiesa, Ana Elena, González Sarmiento, Rogelio, Targovnik, Hector Manuel, Rivolta, Carina Marcela

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 cause of IOD and are commo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3498::04e0c6781d5ca80903968962971b4927
Wiley Online Library

Neonatal and Infant Reference Intervals for FSH, LH, Testosterone, Estradiol, Cortisol and DHEA-S by Electrochemiluminescence in Argentina.

Autor: Tarifa CS; Ferroviarios esq. Bajada Pucará (CP 5000) Córdoba-Argentina, E-mail: cintiatarifa@hotmail.com., Silvano LK; Endocrinology Department, Hospital de Niños de la Santísima Trinidad, Córdoba, Argentina., Martin SE; Endocrinology Department, Hospital de Niños de la Santísima Trinidad, Córdoba, Argentina., Campi V; Endocrinology Department, Hospital de Niños de la Santísima Trinidad, Córdoba, Argentina., Aguirre MC; Endocrinology Department, Hospital de Niños de la Santísima Trinidad, Córdoba, Argentina., Sobrero GM; Endocrinology Department, Hospital de Niños de la Santísima Trinidad, Córdoba, Argentina., Ochetti M; Endocrinology Department, Hospital de Niños de la Santísima Trinidad, Córdoba, Argentina., Miras MB; Endocrinology Department, Hospital de Niños de la Santísima Trinidad, Córdoba, Argentina., Muñoz NL; Endocrinology Department, Hospital de Niños de la Santísima Trinidad, Córdoba, Argentina.

Publikováno v: Pediatric endocrinology reviews : PER [Pediatr Endocrinol Rev] 2020 Jun; Vol. 17 (3), pp. 235-242.