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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Detalles Bibliográficos
Autores principales: Kraus, Dror, Abdelrahim, Huda, Waisbourd-Zinman, Orith, Domin, Elena, Zeharia, Avraham, Staretz-Chacham, Orna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9032157/
https://www.ncbi.nlm.nih.gov/pubmed/35455589
http://dx.doi.org/10.3390/children9040545

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