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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Bibliographic Details
Main Authors: Magd A. Kotb, Lobna Mansour, Christine William Shaker Basanti, Wael El Garf, Ghada I.Z. Ali, Sally T. Mostafa El Sorogy, Inas E.M. Kamel, Naglaa M Kamal
Format: Article
Language:English
Published: Elsevier 2018-07-01
Series:Journal of Advanced Research
Online Access:http://www.sciencedirect.com/science/article/pii/S2090123218300213