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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 (...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Korean Academy of Rehabilitation Medicine
2019
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| 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 |