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

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

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

Publikováno v: Journal of Inborn Errors of Metabolism and Screening, Vol 9 (2021)
Journal of Inborn Errors of Metabolism and Screening v.9 2021
Journal of Inborn Errors of Metabolism and Screening
Instituto Genética para Todos (IGPT)
instacron:IGPT

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 complications. D

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c56d6a9df990cfd6f8b8981cc8d9e1b
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942021000100307&tlng=en

Deficiencia de cobalamina C de inicio temprano: presentación de caso clínico

Autor: Yeny Blanco, Hernán Eiroa, Verónica Bindi, Carlos Rugilo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::848974400d1b70fb9a4074717bb25a38
https://doi.org/10.21840/siic/159788

[Citrullinemia type I with recurrent liver failure in a child]

Autor: Verónica, Bindi, Hernán, Eiroa

Publikováno v: Archivos argentinos de pediatria. 115(1)

Citrullinemia type I is an autosomal recessive disorder caused by mutation of the gene expressing ASS1 argininosuccinate synthetase, limiting enzyme of the urea cycle. The classic variants are associated with neonatal/infantile forms that cause hyper

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::3a4c10cc095a30791cb3776a51d2e6ee
https://pubmed.ncbi.nlm.nih.gov/28097854