X-linked adrenoleukodystrophy caused by a novel mutation presenting with various phenotypes in a Taiwanese family.

Chien, Chia-Yin; Chang, Kuo-Hsuan; Chen, Chiung-Mei

Chien, Chia-Yin; Chang, Kuo-Hsuan; Chen, Chiung-Mei.

Afiliação

Chien CY; Department of Neurology, Chang Gung Memorial Hospital, Linkou Medical Center, Taiwan.
Chang KH; Department of Neurology, Chang Gung Memorial Hospital, Linkou Medical Center, Taiwan; Department of Neurology, Chang Gung University, College of Medicine, Taoyuan County, Taiwan.
Chen CM; Department of Neurology, Chang Gung Memorial Hospital, Linkou Medical Center, Taiwan; Department of Neurology, Chang Gung University, College of Medicine, Taoyuan County, Taiwan. Electronic address: cmchen@cgmh.org.tw.

Clin Chim Acta ; 514: 100-106, 2021 Mar.

Article em En | MEDLINE | ID: mdl-33359056

Assuntos

Adrenoleucodistrofia; Adrenoleucodistrofia/diagnóstico; Adrenoleucodistrofia/genética; Humanos; Masculino; Pessoa de Meia-Idade; Mutação; Mutação de Sentido Incorreto; Fenótipo; Adulto Jovem

Palavras-chave

ABCD1 gene; Addison's disease; Adrenomyeloneuropathy; Nerve conduction studies; Novel mutation; X-linked adrenoleukodystrophy

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Adrenoleucodistrofia Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adult / Humans / Male / Middle aged Idioma: En Revista: Clin Chim Acta Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Taiwan

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