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The Report of Three Rare Cases of the Niemann-pick Disease in Birjand, South Khorasan, Eastern Iran
Niemann–Pick disease type C (NP-C) is a rare neurovisceral and irreversible disease leading to premature death and disabling neurological signs. This autosomal recessive disease with incidence rate of 1:120000 is caused by mutations in either the NPC1 or the NPC2 gene, which leads to accumulation of...
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| Veröffentlicht in: | Iran J Child Neurol |
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| Hauptverfasser: | , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
Shahid Beheshti University of Medical Sciences
2017
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5582361/ https://ncbi.nlm.nih.gov/pubmed/28883878 |
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