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

• Hoofdauteurs: L. Ordieres-Ortega (Auteur), F. Galeano-Valle (Auteur), M. Mallén-Pérez (Auteur), C. Muñoz-Delgado (Auteur), J. E. Apaza-Chavez (Auteur), F. J. Menárguez-Palanca (Auteur), L. A. Alvarez-Sala Walther (Auteur), P. Demelo-Rodríguez (Auteur)
• Formaat: Boek
• Gepubliceerd in: BMC, 2020-05-01T00:00:00Z.
• Onderwerpen: article
• Online toegang: 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...