Paroxysmal spasticity of lower extremities as the initial symptom in two siblings with maple syrup urine disease

Maple syrup urine disease (MSUD) is a rare autosomal recessive metabolic disorder caused by mutations in genes that encode subunits of the branched-chain α-ketoacid dehydrogenase (BCKD) complex. Impairment of the BCKD complex results in an abnormal accumulation of branched-chain amino acids and thei...

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Detalles Bibliográficos
Autores principales: Liu, Yi-Dan, Chu, Xu, Liu, Rui-Hua, Sun, Ying, Kong, Qing-Xia, Li, Qiu-Bo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2019
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6522870/
https://www.ncbi.nlm.nih.gov/pubmed/30957186
http://dx.doi.org/10.3892/mmr.2019.10133

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6522870/
https://www.ncbi.nlm.nih.gov/pubmed/30957186
http://dx.doi.org/10.3892/mmr.2019.10133

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