Niemann-Pick Disease Type C Misdiagnosed as Cerebral Palsy: A Case Report

Niemann-Pick disease type C (NP-C) is a rare autosomal recessive neurovisceral lysosomal lipid storage disorder. The clinical manifestations of the disorder are variable. This report describes the case of a 27-month-old girl with NP-C whose condition had been misdiagnosed as spastic cerebral palsy (...

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Detalles Bibliográficos
Autores principales: Ko, Eun Jae, Sung, In Young, Yoo, Han-Wook
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Korean Academy of Rehabilitation Medicine 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6835131/
https://www.ncbi.nlm.nih.gov/pubmed/31693851
http://dx.doi.org/10.5535/arm.2019.43.5.621