טוען...
Clinical and neurophysiological characteristics of heterozygous NPC1 carriers
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 mutations in...
שמור ב:
| הוצא לאור ב: | JIMD Rep |
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| Main Authors: | , , , , , , , , , , |
| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
John Wiley & Sons, Inc.
2019
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| נושאים: | |
| גישה מקוונת: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6718120/ https://ncbi.nlm.nih.gov/pubmed/31497485 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jmd2.12059 |
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