How to detect late-onset inborn errors of metabolism in patients with movement disorders - A modern diagnostic approach.

Koens, Lisette H; de Vries, Jeroen J; Vansenne, Fleur; de Koning, Tom J; Tijssen, Marina A J

Koens, Lisette H; de Vries, Jeroen J; Vansenne, Fleur; de Koning, Tom J; Tijssen, Marina A J.

Afiliação

Koens LH; Department of Neurology, University of Groningen, University Medical Center Groningen, Hanzeplein 1, 9700 RB, Groningen, the Netherlands; Expertise Center Movement Disorders Groningen, University Medical Center Groningen, Hanzeplein 1, 9700 RB, Groningen, the Netherlands.
de Vries JJ; Department of Neurology, University of Groningen, University Medical Center Groningen, Hanzeplein 1, 9700 RB, Groningen, the Netherlands; Expertise Center Movement Disorders Groningen, University Medical Center Groningen, Hanzeplein 1, 9700 RB, Groningen, the Netherlands.
Vansenne F; Expertise Center Movement Disorders Groningen, University Medical Center Groningen, Hanzeplein 1, 9700 RB, Groningen, the Netherlands; Department of Genetics, University of Groningen, University Medical Center Groningen, Hanzeplein 1, 9700 RB, Groningen, the Netherlands.
de Koning TJ; Expertise Center Movement Disorders Groningen, University Medical Center Groningen, Hanzeplein 1, 9700 RB, Groningen, the Netherlands; Department of Genetics, University of Groningen, University Medical Center Groningen, Hanzeplein 1, 9700 RB, Groningen, the Netherlands; Department of Clinical Scien
Tijssen MAJ; Department of Neurology, University of Groningen, University Medical Center Groningen, Hanzeplein 1, 9700 RB, Groningen, the Netherlands; Expertise Center Movement Disorders Groningen, University Medical Center Groningen, Hanzeplein 1, 9700 RB, Groningen, the Netherlands. Electronic address: m.a.j.d

Parkinsonism Relat Disord ; 85: 124-132, 2021 04.

Article em En | MEDLINE | ID: mdl-33745796

Assuntos

Sequenciamento de Nucleotídeos em Larga Escala; Erros Inatos do Metabolismo/diagnóstico; Transtornos dos Movimentos/diagnóstico; Idade de Início; Humanos

Palavras-chave

Adult-onset; Algorithm; Inborn errors of metabolism; Movement disorders; Next-generation sequencing

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Sequenciamento de Nucleotídeos em Larga Escala / Erros Inatos do Metabolismo / Transtornos dos Movimentos Tipo de estudo: Diagnostic_studies / Prognostic_studies / Systematic_reviews Limite: Humans Idioma: En Revista: Parkinsonism Relat Disord Assunto da revista: NEUROLOGIA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Holanda

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