Characterization of the molecular defect in infantile and adult acid alpha-glucosidase deficiency fibroblasts.

Lignende værker

• Genetic heterogeneity in acid alpha-glucosidase deficiency.
  af: Beratis, N G, et al.
  Udgivet: (1983)
• An isozyme of acid alpha-glucosidase with reduced catalytic activity for glycogen.
  af: Beratis, N G, et al.
  Udgivet: (1980)
• Isolation of a cDNA for human acid alpha-glucosidase and detection of genetic heterogeneity for mRNA in three alpha-glucosidase-deficient patients.
  af: Martiniuk, F, et al.
  Udgivet: (1986)
• Further characterization of SacI RFLPs at the Acid Alpha Glucosidase (GAA) locus
  af: Tzall, S., et al.
  Udgivet: (1990)
• Characterization of residual enzyme activity in fibroblasts from patients with adenosine deaminase deficiency and combined immunodeficiency: evidence for a mutant enzyme.
  af: Hirschhorn, R, et al.
  Udgivet: (1976)