Elevated Alpha-Fetoprotein in Infantile-Onset Niemann-Pick Type C Disease with Liver Involvement

• Главные авторы: Dror Kraus (Автор), Huda Abdelrahim (Автор), Orith Waisbourd-Zinman (Автор), Elena Domin (Автор), Avraham Zeharia (Автор), Orna Staretz-Chacham (Автор)
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• Опубликовано: MDPI AG, 2022-04-01T00:00:00Z.
• Предметы: article
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Niemann-Pick disease type C (NPC) is a rare autosomal recessive neuro-visceral lipid storage disease. We describe nine cases of infantile-onset NPC with various genetic mutations in the NPC1 gene, which presented with neonatal cholestasis. Serum alpha-fetoprotein (AFP) levels were obtained as part o...