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.

Afiliación

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 en En | MEDLINE | ID: mdl-37718464

Asunto(s)

Distonía; Trastornos Distónicos; Homocistinuria; Niño; Humanos; Homocistinuria/complicaciones; Homocistinuria/diagnóstico; Homocistinuria/genética; Distonía/diagnóstico; Distonía/etiología; Cistationina betasintasa; Piridoxina/uso terapéutico; Vitamina B 6/uso terapéutico; Homocisteína

Palabras clave

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

Texto completo

Imprimir

XML

PubMed Links

Buscar en Google

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Trastornos Distónicos / Distonía / Homocistinuria Límite: Child / Humans Idioma: En Revista: J Inherit Metab Dis Año: 2023 Tipo del documento: Article País de afiliación: Alemania

Texto completo

Imprimir

XML

PubMed Links

Buscar en Google