Niemann-Pick disease A or B in four pediatric patients and SMPD1
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Descrição
The demographics and distribution of type B Niemann-Pick disease: novel mutations lead to new genotype/phenotype correlations.
A proposed model for the pathogenesis of Niemann-Pick disease type
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Niemann–Pick disease - Wikipedia
The demographics and distribution of type B Niemann-Pick disease: novel mutations lead to new genotype/phenotype correlations.
Recommendations for the detection and diagnosis of Niemann-Pick disease type C
PDF) R542X mutation in SMPD1 gene: Genetically novel mutation with phenotypic features intermediate between type A and type B Niemann-Pick disease
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IJMS, Free Full-Text
Rare Disease Video - Niemann-Pick Disease Types A & B - National Organization for Rare Disorders
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