Coenzyme Q10 deficiency due to a COQ4 gene defect causes childhood-onset spinocerebellar ataxia and stroke-like episodes.

Bosch, Annet M; Kamsteeg, Erik-Jan; Rodenburg, Richard J; van Deutekom, Arend W; Buis, Dennis R; Engelen, Marc; Cobben, Jan-Maarten

Bosch, Annet M; Kamsteeg, Erik-Jan; Rodenburg, Richard J; van Deutekom, Arend W; Buis, Dennis R; Engelen, Marc; Cobben, Jan-Maarten.

Afiliação

Bosch AM; Department of Pediatrics, Division of Metabolic Disorders, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands.
Kamsteeg EJ; Department of Human Genetics Radboud University Medical Center, Nijmegen, the Netherlands.
Rodenburg RJ; Radboud Center for Mitochondrial Medicine, Translational Metabolic Laboratory, Department of Pediatrics, Radboud University Medical Center, Nijmegen, the Netherlands.
van Deutekom AW; Department of Pediatric Cardiology, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands.
Buis DR; Department of Neurosurgery, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands.
Engelen M; Department of Pediatric Neurology, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands.
Cobben JM; Department of Pediatrics, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, the Netherlands.

Mol Genet Metab Rep ; 17: 19-21, 2018 Dec.

Article em En | MEDLINE | ID: mdl-30225196

Palavras-chave

COQ4 gene defect; Co enzyme Q10 deficiency; Spinocerebellar ataxia

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Etiology_studies Idioma: En Revista: Mol Genet Metab Rep Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Holanda País de publicação: Estados Unidos

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