Clinical profile and molecular characterization of Galactosemia in Brazil: identification of seven novel mutations

BACKGROUND: Classical Galactosemia (CG) is an inborn error of galactose metabolism caused by the deficiency of the galactose-1-phosphate uridyltransferase enzyme. It is transmitted as an autosomal recessive disease and is typically characterized by neonatal galactose intolerance, with complications...

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Detalles Bibliográficos
Autores principales: Garcia, Daniel F., Camelo, José S., Molfetta, Greice A., Turcato, Marlene, Souza, Carolina F. M., Porta, Gilda, Steiner, Carlos E., Silva, Wilson A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4866286/
https://www.ncbi.nlm.nih.gov/pubmed/27176039
http://dx.doi.org/10.1186/s12881-016-0300-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4866286/
https://www.ncbi.nlm.nih.gov/pubmed/27176039
http://dx.doi.org/10.1186/s12881-016-0300-8

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