Associated Papers
Epidemiological, clinical and biochemical characterization of the p.(Ala359Asp) SMPD1 variant causing Niemann-Pick disease type B.
Acuña M et al.
European Journal of Human Genetics : Ejhg, 2016
The demographics and distribution of type B Niemann-Pick disease: novel mutations lead to new genotype/phenotype correlations.
Simonaro CM et al.
American Journal of Human Genetics, 2002
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