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Possible genotype-phenotype correlations in Niemann-Pick type C patients and miglustat treatment.

Ideggyogyaszati szemle - 30 Mar 2021

Çakar Nafiye Emel, Önal Hasan

Abstract excerpt

BACKGROUND AND PURPOSE: Niemann-Pick type C is a rare lysosomal storage disease caused by impaired intracellular cholesterol transport. The autosomal recessive disease is caused by mutations in NPC1 or NPC2 genes. METHODS: Clinical-laboratory features, genotype-phenotype correlation and miglustat treatment response of our patients diagnosed with early infantile Niemann-Pick type C were evaluated. RESULTS: In this...

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PMID: 33938663
DOI: 10.18071/isz.74.0139

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