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Bent spine syndrome as an initial manifestation of late-onset multiple acyl-CoA dehydrogenase deficiency: a case report and literature review

BACKGROUND: Late-onset multiple acyl-CoA dehydrogenase deficiency (MADD) is an autosomal recessive inherited disease of metabolic dysfunction clinically characterized by fluctuating proximal muscle weakness, excise intolerance, and dramatic riboflavin responsiveness. Dropped head syndrome can occasi...

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Detalles Bibliográficos
Autores principales: Peng, Yufen, Zhu, Min, Zheng, Junjun, Zhu, Yuanzhao, Li, Xiaobing, Wei, Caixia, Hong, Daojun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4513616/
https://www.ncbi.nlm.nih.gov/pubmed/26205240
http://dx.doi.org/10.1186/s12883-015-0380-7