Deficiency of alkaline ceramidase 3 with infancy-onset progressive leukoencephalopathy: a second case report.

Kilic, Huseyin; Dogan, Mustafa; Sahin, Sezgin; Saltik, Sema; Yalcinkaya, Cengiz

Kilic, Huseyin; Dogan, Mustafa; Sahin, Sezgin; Saltik, Sema; Yalcinkaya, Cengiz.

Afiliación

Kilic H; Department of Pediatric Neurology, Malatya Training and Research Hospital, Malatya, Turkey. kilichuseyin@me.com.
Dogan M; Department of Medical Genetics, Malatya Training and Research Hospital, Malatya, Turkey.
Sahin S; Department of Pediatric Rheumatology, Van Training and Research Hospital, Van, Turkey.
Saltik S; Department of Pediatric Neurology, Cerrahpasa School of Medicine, Istanbul University-Cerrahpasa, Istanbul, Turkey.
Yalcinkaya C; Department of Neurology, Cerrahpasa School of Medicine, Istanbul University-Cerrahpasa, Istanbul, Turkey.

Acta Neurol Belg ; 121(6): 1867-1870, 2021 Dec.

Article en En | MEDLINE | ID: mdl-32816236

Asunto(s)

Ceramidasa Alcalina/deficiencia; Encéfalo/diagnóstico por imagen; Leucoencefalopatías/genética; Sustancia Blanca/diagnóstico por imagen; Ceramidasa Alcalina/genética; Preescolar; Humanos; Leucoencefalopatías/diagnóstico por imagen; Espectroscopía de Resonancia Magnética; Masculino; Mutación

Palabras clave

Alkaline ceramidase 3; Genetic leukoencephalopathy; Leukodystrophy; Whole exome sequencing

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Encéfalo / Ceramidasa Alcalina / Leucoencefalopatías / Sustancia Blanca Límite: Child, preschool / Humans / Male Idioma: En Revista: Acta Neurol Belg Año: 2021 Tipo del documento: Article País de afiliación: Turquía Pais de publicación: Italia

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