Classical homocystinuria presenting with transient basal ganglia pathology and dystonia.

Averdunk, Luisa; Thimm, Eva; Klee, Dirk; Haack, Tobias B; Distelmaier, Felix

Averdunk, Luisa; Thimm, Eva; Klee, Dirk; Haack, Tobias B; Distelmaier, Felix.

Afiliação

Averdunk L; Department of General Pediatrics and Neonatology, University Children's Hospital, Medical Faculty, Heinrich-Heine-University, Düsseldorf, Germany.
Thimm E; Department of General Pediatrics and Neonatology, University Children's Hospital, Medical Faculty, Heinrich-Heine-University, Düsseldorf, Germany.
Klee D; Institute of Radiology, Department of Pediatric Radiology, Medical Faculty, Heinrich-Heine-University, Düsseldorf, Germany.
Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
Distelmaier F; Department of General Pediatrics and Neonatology, University Children's Hospital, Medical Faculty, Heinrich-Heine-University, Düsseldorf, Germany.

J Inherit Metab Dis ; 46(6): 1206-1208, 2023 11.

Article em En | MEDLINE | ID: mdl-37718464

Assuntos

Distonia; Distúrbios Distônicos; Homocistinúria; Criança; Humanos; Homocistinúria/complicações; Homocistinúria/diagnóstico; Homocistinúria/genética; Distonia/diagnóstico; Distonia/etiologia; Cistationina beta-Sintase; Piridoxina/uso terapêutico; Vitamina B 6/uso terapêutico; Homocisteína

Palavras-chave

basal ganglia; central tegmental tract; corpus callosum; dystonia; vitamin B6

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Distúrbios Distônicos / Distonia / Homocistinúria Limite: Child / Humans Idioma: En Revista: J Inherit Metab Dis Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Alemanha

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