Clinical and neurophysiological characteristics of heterozygous NPC1 carriers
Abstract Niemann‐Pick disease type C (NPC) is an uncommon lysosomal storage disorder, which is characterized neuropathologically by cholinergic dysfunction and presents clinically with a broad series of neurological signs and symptoms. NPC is inherited as an autosomal recessive trait, caused by muta...
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| Principais autores: | , , , , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Wiley
2019-09-01
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| coleção: | JIMD Reports |
| Assuntos: | |
| Acesso em linha: | https://doi.org/10.1002/jmd2.12059 |
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