Epidemiological, clinical and biochemical characterization of the p.(Ala359Asp) SMPD1 variant causing Niemann–Pick disease type B

@article{Acua2016EpidemiologicalCA,
  title={Epidemiological, clinical and biochemical characterization of the p.(Ala359Asp) SMPD1 variant causing Niemann–Pick disease type B},
  author={Mariana L Acu{\~n}a and Pablo A. Leon Martinez and Carol Moraga and Xingxuan He and Mauricio Moraga and Bessie Hunter and Peter N{\"u}rnberg and Rodrigo A. Guti{\'e}rrez and Mauricio Gonz{\'a}lez and Edward H Schuchman and Jos{\'e} Luis Santos and Juan Francisco Miquel and Paulina Mabe and Silvana Zanlungo},
  journal={European Journal of Human Genetics},
  year={2016},
  volume={24},
  pages={208-213}
}
Niemann–Pick disease type B (NPDB) is a rare, inherited lysosomal storage disorder that occurs due to variants in the sphingomyelin phosphodiesterase 1 (SMPD1) gene and the resultant deficiency of acid sphingomyelinase (ASM) activity. While numerous variants causing NPDB have been described, only a small number have been studied in any detail. Herein, we describe the frequency of the p.(Ala359Asp) variant in the healthy Chilean population, and determine the haplotype background of homozygous… CONTINUE READING
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