Rare Variant of GM2 Gangliosidosis through Activator-Protein Deficiency.

Brackmann, Florian; Kehrer, Christiane; Kustermann, Wibke; Böhringer, Judith; Krägeloh-Mann, Ingeborg; Trollmann, Regina

Brackmann, Florian; Kehrer, Christiane; Kustermann, Wibke; Böhringer, Judith; Krägeloh-Mann, Ingeborg; Trollmann, Regina.

Afiliación

Brackmann F; Division of Neuropediatrics, Department of Pediatrics, University Hospital Erlangen, Erlangen, Germany.
Kehrer C; Department of Pediatric Neurology, University Children's Hospital, Tübingen, Germany.
Kustermann W; Division of Neuropediatrics, Department of Pediatrics, University Hospital Erlangen, Erlangen, Germany.
Böhringer J; Department of Pediatric Neurology, University Children's Hospital, Tübingen, Germany.
Krägeloh-Mann I; Department of Pediatric Neurology, University Children's Hospital, Tübingen, Germany.
Trollmann R; Division of Neuropediatrics, Department of Pediatrics, University Hospital Erlangen, Erlangen, Germany.

Neuropediatrics ; 48(2): 127-130, 2017 Apr.

Article en En | MEDLINE | ID: mdl-28192816

Asunto(s)

Proteína Activadora de G (M2)/deficiencia; Proteína Activadora de G (M2)/genética; Gangliosidosis GM2/genética; Gangliosidosis GM2/metabolismo; Mutación; Encéfalo/diagnóstico por imagen; Diagnóstico Diferencial; Femenino; Gangliosidosis GM2/diagnóstico por imagen; Gangliosidosis GM2/patología; Humanos; Lactante; Retina/patología

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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Gangliosidosis GM2 / Proteína Activadora de G (M2) / Mutación Tipo de estudio: Diagnostic_studies Idioma: En Revista: Neuropediatrics Año: 2017 Tipo del documento: Article

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