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

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

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...

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Bibliographic Details
Main Authors: Dror Kraus, Huda Abdelrahim, Orith Waisbourd-Zinman, Elena Domin, Avraham Zeharia, Orna Staretz-Chacham
Format: Article
Language:English
Published: MDPI AG 2022-04-01
Series:Children
Subjects:
Niemann-Pick disease type C
Alpha-fetoprotein
hepatic involvement
cholestasis
Online Access:https://www.mdpi.com/2227-9067/9/4/545

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