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

L Ordieres-Ortega1,2, F Galeano-Valle1,3, M Mallén-Pérez4

  • 1Internal Medicine Department, Hospital General Universitario Gregorio Marañón, Calle Dr. Esquerdo 46, 28007, Madrid, Spain.

BMC Medical Genetics
|May 8, 2020
PubMed
Abstract

Keywords:
GeneticsLow HDL cholesterolNiemann-Pick disease, type BSphingomyelin phosphodiesterase

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