A novel compound heterozygous mutation in GALC associated with adult-onset Krabbe disease: case report and literature review.

Iacono, Salvatore; Del Giudice, Elda; Leon, Alberta; La Bella, Vincenzo; Spataro, Rossella

Iacono, Salvatore; Del Giudice, Elda; Leon, Alberta; La Bella, Vincenzo; Spataro, Rossella.

Afiliação

Iacono S; ALS Clinical Research Center, P Giaccone University Hospital and Department of Biomedicine, Neuroscience and advanced Diagnostic (BIND), University of Palermo, via Gaetano La Loggia n° 1, 90129, Palermo, Italy.
Del Giudice E; Research & Innovation (R&I Genetics) srl, C/so Stati Uniti 4, int F, 35127, Padova, Italy.
Leon A; Research & Innovation (R&I Genetics) srl, C/so Stati Uniti 4, int F, 35127, Padova, Italy.
La Bella V; ALS Clinical Research Center, P Giaccone University Hospital and Department of Biomedicine, Neuroscience and advanced Diagnostic (BIND), University of Palermo, via Gaetano La Loggia n° 1, 90129, Palermo, Italy. vincenzo.labella@unipa.it.
Spataro R; ALS Clinical Research Center, P Giaccone University Hospital and Department of Biomedicine, Neuroscience and advanced Diagnostic (BIND), University of Palermo, via Gaetano La Loggia n° 1, 90129, Palermo, Italy.

Neurogenetics ; 23(2): 157-165, 2022 04.

Article em En | MEDLINE | ID: mdl-35013804

Assuntos

Galactosilceramidase; Leucodistrofia de Células Globoides; Galactosilceramidase/genética; Heterozigoto; Humanos; Leucodistrofia de Células Globoides/diagnóstico; Leucodistrofia de Células Globoides/genética; Masculino; Pessoa de Meia-Idade; Mutação

Palavras-chave

Adult-onset; Compound heterozygous mutation; GALC; Krabbe disease; Peripheral neuropathy

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Galactosilceramidase / Leucodistrofia de Células Globoides Tipo de estudo: Diagnostic_studies / Risk_factors_studies Limite: Humans / Male / Middle aged Idioma: En Revista: Neurogenetics Assunto da revista: GENETICA / NEUROLOGIA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Itália

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