Phenotypic and Genotypic Variability in Niemann-Pick Type C: A Brazilian Case Series
Abstract Niemann-Pick disease type C (NPC) disease is a lysosomal storage disorder caused by alterations in the trafficking of unesterified cholesterol due to mutations in the NPC1 and NPC2 genes. Its manifestations can be visceral, neurological, and psychiatric. This study conducts a retrospective...
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| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
SciELO
2025-05-01
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| Series: | Journal of Inborn Errors of Metabolism and Screening |
| Subjects: | |
| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942025000100503&lng=en&tlng=en |
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