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

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

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.

Afiliação

Kotb MA; Department of Pediatrics, Pediatric Hepatology Unit, Faculty of Medicine, Cairo University, Egypt.
Mansour L; Department of Pediatrics, Pediatric Neurology Unit, Faculty of Medicine, Cairo University, Egypt.
William Shaker Basanti C; Department of Pediatrics, Pediatric Pulmonology Unit, Faculty of Medicine, Cairo University, Egypt.
El Garf W; Pediatric Medicine Department, National Research Center, Cairo, Egypt.
Ali GIZ; Department of Pediatrics, Maady Military Hospital, Cairo, Egypt.
Mostafa El Sorogy ST; Department of Pediatrics, Public Mounira Hospital, Cairo, Egypt.
Kamel IEM; Pediatric Medicine Department, National Research Center, Cairo, Egypt.
Kamal NM; Department of Pediatrics, Pediatric Hepatology Unit, Faculty of Medicine, Cairo University, Egypt.

J Adv Res ; 12: 39-45, 2018 Jul.

Article em En | MEDLINE | ID: mdl-30038819

Palavras-chave

Cataract self-mutilation combined immune deficiency; Classic galactosemia; Convulsions motor retardation mental retardation; Galactose-1-phosphate uridylyltransferase GALT; Kernicterus microcephaly; Liver cell failure autoimmune hepatitis

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Texto completo: 1 Coleções: 01-internacional Contexto em Saúde: 3_ND Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies / Screening_studies Idioma: En Revista: J Adv Res Ano de publicação: 2018 Tipo de documento: Article

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