Molecular Diagnostics of Copper-Transporting Protein Mutations Allows Early Onset Individual Therapy of Menkes Disease.

Králík, L; Flachsová, E; Hansíková, H; Saudek, V; Zeman, J; Martásek, P

Králík, L; Flachsová, E; Hansíková, H; Saudek, V; Zeman, J; Martásek, P.

Afiliação

Králík L; Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Czech Republic.
Flachsová E; Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Czech Republic.
Hansíková H; Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Czech Republic.
Saudek V; Wellcome Trust-MRC Institute of Metabolic Science, University of Cambridge Metabolic Research Laboratories, Cambridge, United Kingdom.
Zeman J; Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Czech Republic.
Martásek P; Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Czech Republic.

Folia Biol (Praha) ; 63(5-6): 165-173, 2017.

Article em En | MEDLINE | ID: mdl-29687769

Assuntos

Proteínas de Transporte/metabolismo; ATPases Transportadoras de Cobre/metabolismo; Cobre/sangue; Síndrome dos Cabelos Torcidos/metabolismo; Mutação/genética; Proteínas de Transporte/genética; Criança; Cobre/metabolismo; Proteínas de Transporte de Cobre; ATPases Transportadoras de Cobre/genética; Humanos; Lactente; Masculino; Síndrome dos Cabelos Torcidos/genética; Metalochaperonas/genética; Metalochaperonas/metabolismo; Modelos Biológicos; Chaperonas Moleculares

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Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas de Transporte / Cobre / ATPases Transportadoras de Cobre / Síndrome dos Cabelos Torcidos / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies / Screening_studies Limite: Child / Humans / Infant / Male Idioma: En Ano de publicação: 2017 Tipo de documento: Article

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