Early white matter involvement in an infant carrying a novel mutation in ACOX1.

Masson, R; Guerra, S; Cerini, R; Pensato, V; Gellera, C; Taroni, F; Simonati, A

Masson, R; Guerra, S; Cerini, R; Pensato, V; Gellera, C; Taroni, F; Simonati, A.

Afiliación

Masson R; Department of Neuroscience, Biomedicine, Movement-Neurology (Child Neurology and Psychiatry), University of Verona, Italy.
Guerra S; Department of Neuroscience, Biomedicine, Movement-Neurology (Child Neurology and Psychiatry), University of Verona, Italy.
Cerini R; Radiology Unit, Bussolengo Hospital, AUSL22 Regione Veneto, Italy.
Pensato V; Unit of Genetics of Neurodegenerative and Metabolic Disease, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Gellera C; Unit of Genetics of Neurodegenerative and Metabolic Disease, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Taroni F; Unit of Genetics of Neurodegenerative and Metabolic Disease, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Simonati A; Department of Neuroscience, Biomedicine, Movement-Neurology (Child Neurology and Psychiatry), University of Verona, Italy. Electronic address: alessandro.simonati@univr.it.

Eur J Paediatr Neurol ; 20(3): 431-4, 2016 May.

Article en En | MEDLINE | ID: mdl-26965209

Asunto(s)

Acil-CoA Oxidasa/genética; Mutación/genética; Convulsiones/diagnóstico por imagen; Convulsiones/genética; Sustancia Blanca/diagnóstico por imagen; Cerebelo/diagnóstico por imagen; Preescolar; Humanos; Lactante; Imagen por Resonancia Magnética; Masculino

Palabras clave

ACOX1 disease; Cerebellum; MRI; Peroxisomal disorders

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Convulsiones / Acil-CoA Oxidasa / Sustancia Blanca / Mutación Tipo de estudio: Prognostic_studies Límite: Child, preschool / Humans / Infant / Male Idioma: En Revista: Eur J Paediatr Neurol Asunto de la revista: NEUROLOGIA / PEDIATRIA Año: 2016 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Reino Unido

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