Clinical and molecular findings in 6 Turkish cases with Krabbe disease.

Aslanger, Ayça Dilruba; Sengenç, Esma; Kölemen, Ayse Betül; Demiral, Emine; Alkan, Alpay; Iscan, Akin; Yesil, Gözde

Aslanger, Ayça Dilruba; Sengenç, Esma; Kölemen, Ayse Betül; Demiral, Emine; Alkan, Alpay; Iscan, Akin; Yesil, Gözde.

Afiliación

Aslanger AD; Departments of Medical Genetics, Istanbul Training and Research Hospital, Istanbul, Turkey.
Sengenç E; Departments of Pediatric Neurology, Istanbul Training and Research Hospital, Istanbul, Turkey.
Kölemen AB; Bezmialem Vakif University Faculty of Medicine, Istanbul.
Demiral E; Department of Medical Genetics, Istanbul Training and Research Hospital, Istanbul, Turkey.
Alkan A; Departments of Radiology, Istanbul Training and Research Hospital, Istanbul, Turkey.
Iscan A; Departments of Pediatric Neurology, Istanbul Training and Research Hospital, Istanbul, Turkey.
Yesil G; Departments of Medical Genetics, Istanbul Training and Research Hospital, Istanbul, Turkey.

Turk J Pediatr ; 64(1): 69-78, 2022.

Article en En | MEDLINE | ID: mdl-35286032

Asunto(s)

Leucodistrofia de Células Globoides; Galactosilceramidasa/genética; Humanos; Recién Nacido; Leucodistrofia de Células Globoides/diagnóstico; Leucodistrofia de Células Globoides/genética; Mutación; Tamizaje Neonatal

Palabras clave

GALC gene; Krabbe disease; newborn screening tests

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Leucodistrofia de Células Globoides Tipo de estudio: Diagnostic_studies / Screening_studies Límite: Humans / Newborn Idioma: En Revista: Turk J Pediatr Año: 2022 Tipo del documento: Article País de afiliación: Turquía Pais de publicación: Turquía

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