Niemann-Pick disease: a frequent missense mutation in the acid sphingomyelinase gene of Ashkenazi Jewish type A and B patients.

Ítems similars

• Niemann-Pick type B disease. Identification of a single codon deletion in the acid sphingomyelinase gene and genotype/phenotype correlations in type A and B patients.
  per: Levran, O, et al.
  Publicat: (1991)
• Types A and B Niemann-Pick Disease
  per: Schuchman, Edward H., et al.
  Publicat: (2016)
• Enhanced Delivery and Effects of Acid Sphingomyelinase by ICAM-1-Targeted Nanocarriers in Type B Niemann-Pick Disease Mice
  per: Garnacho, Carmen, et al.
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• Brain pathology in Niemann Pick disease type A: Insights from the acid sphingomyelinase knockout mice
  per: Ledesma, Maria Dolores, et al.
  Publicat: (2011)
• Retroviral-mediated transfer of the human acid sphingomyelinase cDNA: correction of the metabolic defect in cultured Niemann-Pick disease cells.
  per: Suchi, M, et al.
  Publicat: (1992)