Molecular analysis of GALT gene in Argentinian population: Correlation with enzyme activity and characterization of a novel Duarte-like allele

BACKGROUND: Classical galactosemia is an autosomal recessive inherited metabolic disorder caused by mutations in the galactose-1-phosphate uridyltransferase (GALT) gene. GALT enzyme deficiency leads to the accumulation of galactose-1-phosphate in various organs, causing hepatic, renal and cerebral i...

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Detalles Bibliográficos
Autores principales: Crespo, Carolina, Eiroa, Hernán, Otegui, María Inés, Bonetto, Mara Cecilia, Chertkoff, Lilien, Gravina, Luis Pablo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7733017/
https://www.ncbi.nlm.nih.gov/pubmed/33335841
http://dx.doi.org/10.1016/j.ymgmr.2020.100695

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7733017/
https://www.ncbi.nlm.nih.gov/pubmed/33335841
http://dx.doi.org/10.1016/j.ymgmr.2020.100695

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