Pilot study of classic galactosemia: Neurodevelopmental impact and other complications urge neonatal screening in Egypt

Classic galactosemia is caused by deficiency of galactose-1-phosphate uridylyltransferase (GALT). It causes serious morbidity and mortality if left untreated. Screening for galactosemia is not included in Egyptian neonatal screening program. The study aimed to define clinical presentation and compli...

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Detalles Bibliográficos
Autores principales: Kotb, Magd A., Mansour, Lobna, William Shaker Basanti, Christine, El Garf, Wael, Ali, Ghada I.Z., Mostafa El Sorogy, Sally T., Kamel, Inas E.M., Kamal, Naglaa M
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2018
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6054589/
https://www.ncbi.nlm.nih.gov/pubmed/30038819
http://dx.doi.org/10.1016/j.jare.2018.02.001

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