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

• Main Authors: L. Ordieres-Ortega (Author), F. Galeano-Valle (Author), M. Mallén-Pérez (Author), C. Muñoz-Delgado (Author), J. E. Apaza-Chavez (Author), F. J. Menárguez-Palanca (Author), L. A. Alvarez-Sala Walther (Author), P. Demelo-Rodríguez (Author)
• Format: Book
• Published: BMC, 2020-05-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...