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

Niemann-Pick disease (NPD) is a rare autosomal recessive hereditary disease characterized by deficient activity of acid sphingomyelinase.

Source: BMC Medical Genetics - May 6, 2020 Category: Genetics & Stem Cells Authors: L. Ordieres-Ortega, F. Galeano-Valle, M. Mall én-Pérez, C. Muñoz-Delgado, J. E. Apaza-Chavez, F. J. Menárguez-Palanca, L. A. Alvarez-Sala Walther and P. Demelo-Rodríguez Tags: Case report Source Type: research