Evidence for a defect of holocarboxylase synthetase activity in cultured lymphoblasts from a patient with biotin-responsive multiple carboxylase deficiency.

Lignende værker

• Mutant holocarboxylase synthetase: evidence for the enzyme defect in early infantile biotin-responsive multiple carboxylase deficiency.
  af: Burri, B J, et al.
  Udgivet: (1981)
• Heterogeneity of holocarboxylase synthetase in patients with biotin-responsive multiple carboxylase deficiency.
  af: Burri, B J, et al.
  Udgivet: (1985)
• Impaired Biotinidase Activity Disrupts Holocarboxylase Synthetase Expression in Late Onset Multiple Carboxylase Deficiency
  af: Pérez-Monjaras, Anylu, et al.
  Udgivet: (2008)
• Biotin-response Organicaciduria: MULTIPLE CARBOXYLASE DEFECTS AND COMPLEMENTATION STUDIES WITH PROPIONICACIDEMIA IN CULTURED FIBROBLASTS
  af: Saunders, M., et al.
  Udgivet: (1979)
• The biotin-dependent carboxylase deficiencies.
  af: Wolf, B, et al.
  Udgivet: (1982)