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

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...

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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7203852/
https://www.ncbi.nlm.nih.gov/pubmed/32375665
http://dx.doi.org/10.1186/s12881-020-01027-9

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