Retroviral-mediated transfer of the human acid sphingomyelinase cDNA: correction of the metabolic defect in cultured Niemann-Pick disease cells.

Antzeko izenburuak

• Niemann-Pick disease: a frequent missense mutation in the acid sphingomyelinase gene of Ashkenazi Jewish type A and B patients.
  nork: Levran, O, et al.
  Argitaratua: (1991)
• Types A and B Niemann-Pick Disease
  nork: Schuchman, Edward H., et al.
  Argitaratua: (2016)
• 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.
  nork: Levran, O, et al.
  Argitaratua: (1991)
• Gene transfer of human acid sphingomyelinase corrects neuropathology and motor deficits in a mouse model of Niemann-Pick type A disease
  nork: Dodge, James C., et al.
  Argitaratua: (2005)
• Imprinting at the SMPD1 Locus: Implications for Acid Sphingomyelinase–Deficient Niemann-Pick Disease
  nork: Simonaro, Calogera M., et al.
  Argitaratua: (2006)