Severe Distal Motor Involvement in a Non-compliant Adult With Biotinidase Deficiency: The Necessity of Life-Long Biotin Therapy

Biotinidase deficiency is an autosomal recessive disorder in which affected individuals are unable to recycle biotin. Untreated, children usually exhibit hypotonia, seizures, ataxia, developmental delay, and/or hearing loss. Individuals diagnosed by newborn screening have an excellent prognosis with...

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Detalles Bibliográficos
Autores principales: Van Winckel, Géraldine, Ballhausen, Diana, Wolf, Barry, Procter, Melinda, Mao, Rong, Burda, Patricie, Strambo, Davide, Kuntzer, Thierry, Tran, Christel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7649240/
https://www.ncbi.nlm.nih.gov/pubmed/33192963
http://dx.doi.org/10.3389/fneur.2020.516799

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