Article
Niemann-Pick disease type-B: a unique case report with compound heterozygosity and complicated lipid management.
BMC medical genetics - 6 May 2020
Ordieres-Ortega L, Galeano-Valle F, Mallén-Pérez M, Muñoz-Delgado C, Apaza-Chavez J E, Menárguez-Palanca F J, Alvarez-Sala Walther L A, Demelo-Rodríguez P
Abstract excerpt
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 which both mutations that induce an early stop codon are located before the second in-frame initiation codon. The clinical...
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