Niemann-Pick disease type-B: a unique case report with compound heterozygosity and complicated lipid management

Niemann-Pick disease type-B: a unique case report with compound heterozygosity and complicated lipid management

Abstract Background Niemann-Pick disease (NPD) is a rare autosomal recessive hereditary disease characterized by deficient activity of acid sphingomyelinase. Case presentation We present a case of NPD type B with a unique compound heterozygosity for SMPD1 (NM_000543.4:c.[84delC];[96G > A]) in whi...

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Bibliographic Details
Main Authors: L. Ordieres-Ortega, F. Galeano-Valle, M. Mallén-Pérez, C. Muñoz-Delgado, J. E. Apaza-Chavez, F. J. Menárguez-Palanca, L. A. Alvarez-Sala Walther, P. Demelo-Rodríguez
Format: Article
Language:English
Published: BMC 2020-05-01
Series:BMC Medical Genetics
Subjects:
Niemann-Pick disease, type B
Sphingomyelin phosphodiesterase
Low HDL cholesterol
Genetics
Online Access:http://link.springer.com/article/10.1186/s12881-020-01027-9

Internet

http://link.springer.com/article/10.1186/s12881-020-01027-9

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