Výsledky vyhledávání - "Hernán D. Eiroa"

Akademický článek

Clinical, Biochemical and Molecular Characterization of a Cohort of Glycogen Storage Disease Type I Patients in a High Complexity Hospital in Argentina

Autor: Verónica Bindi, Hernán D. Eiroa, Carolina Crespo, María Martinez, Luisa Bay

Publikováno v: Journal of Inborn Errors of Metabolism and Screening, Vol 9 (2021)

Abstract Glycogen storage disease type I is an autosomal recessive disorder of carbohydrate metabolism that manifests mainly by hepatomegaly and hypoglycemia with short fasts. Despite strict therapy, patients present long-term renal and liver complic

Externí odkaz: https://doaj.org/article/1d73ed9acea64deaaac3451021869be2

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[The importance of a law on time: presentation of a girl with biotinidase deficiency who was not picked up through the neonatal screening]

Autor: Luisa B, Bay, Silvina, de Pinho, Hernán D, Eiroa, Inés, Otegui, Romina, Rodríguez

Publikováno v: Archivos argentinos de pediatria. 108(1)

In August 2008, the province of Buenos Aires had not adhered to the National law number 26279, that establishes the obligatory nature of the neonatal screening for biotinidase deficiency, among other diseases. In that date, a girl was born in Buenos

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::ffeea6573594ab7d9dce54a3e27c31f2
https://pubmed.ncbi.nlm.nih.gov/20204226

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