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 which...

Cijeli opis

Bibliografski detalji

Glavni autori:	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:	Artigo
Jezik:	Inglês
Izdano:	BMC 2020-05-01
Serija:	BMC Medical Genetics
Teme:	Niemann-Pick disease, type B Sphingomyelin phosphodiesterase Low HDL cholesterol Genetics
Online pristup:	http://link.springer.com/article/10.1186/s12881-020-01027-9
Oznake:	Dodaj oznaku Bez oznaka, Budi prvi tko označuje ovaj zapis!