Biotinidase deficiency: the enzymatic defect in late-onset multiple carboxylase deficiency
Tài liệu tham khảo
Sweetman, 1981, Two forms of biotin-responsive multiple carboxylase deficiency, J Inher Metab Dis, 4, 53, 10.1007/BF02263587
Wolf, 1982, The biotin-dependent carboxylase deficiencies, Am J Hum Genet, 34, 699
Burri, 1981, Mutant holocarboxylase synthetase: Evidence for the enzyme defect in early infantile biotin-responsive multiple carboxylase deficiency, J Clin Invest, 68, 1491, 10.1172/JCI110402
Saunders, 1982, Evidence for a defect of holocarboxylase synthetase activity in cultured lymphoblasts from a patient with biotin-responsive multiple carboxylase deficiency, Am J Hum Genet, 34, 590
Sweetman, 1982, Abnormal holocarboxylase synthetases with elevated Km values for biotin as the cause for one form of the inherited human disorder, biotin-responsive multiple carboxylase deficiency
Munnich, 1981, Defective biotin absorption in multiple carboxylase deficiency, Lancet, 2, 263, 10.1016/S0140-6736(81)90518-3
Thoene, 1983, Impaired intestinal absorption of biotin in juvenile multiple carboxylase deficiency, N Engl J Med, 308, 639, 10.1056/NEJM198303173081107
Baumgartner, 1982, Renal loss of biotin: a cause of biotin-responsive multiple carboxylase deficiency, Pediatr Res, 16, 41
Baker, 1962, A new assay method for biotin in blood, serum, urine, and tissues, Anal Biochem, 3, 31, 10.1016/0003-2697(62)90041-6
Achuta Murthy, 1977, Biotin. Prog Fed Nutr Sci, 2, 405
Thoma, 1954, The enzymatic degradation of soluble bound biotin, J Biol Chem, 210, 569, 10.1016/S0021-9258(18)65383-9
Wright, 1954, Biocytinase, an enzyme concerned with hydrolytic cleavage of biocytin, 86, 335
Pipsa, 1965, Animal biotinidase, Ann Med Exp Biol Fenn, 43, 5
Bayer, 1980, The use of the avidin-biotin complex as a tool in molecular biology, Methods Biochem Anal, 26, 1, 10.1002/9780470110461.ch1
Knappe, 1963, Reinigung und Eigenschaften der Biotinidase aus Schweinenieren und Lactobacillus casei, Biochem Z, 338, 599
McCormick, 1970, Vol. 18, 383
Wolf, 1981, Multiple carboxylase deficiency: clinical and biochemical improvement following biotin treatment, Pediatr, 68, 113
Kien, 1981, Biotin-responsive in vivo carboxylase deficiency in two siblings with secretory diarrhea receiving total parenteral nutrition, J Pediatr, 99, 546, 10.1016/S0022-3476(81)80251-X
Packman, 1982, Prenatal treatment of biotin-responsive multiple carboxylase deficiency, Lancet, 1, 1435, 10.1016/S0140-6736(82)92452-7
Wolf, 1979, Stimulation of propionyl CoA and β-methylcrotonyl CoA carboxylase activities in human leukocytes and cultured fibroblasts by biotin, Pediatr Res, 13, 1275, 10.1203/00006450-197911000-00014
Mock, 1981, Biotin deficiency: an unusual complication of parenteral alimentation, N Engl J Med, 304, 820, 10.1056/NEJM198104023041405
McClain, 1982, Biotin deficiency in an adult during home parenteral nutrition, J Am Med Assoc, 247, 3116, 10.1001/jama.247.22.3116
Kosow, 1962, Propionyl holocarboxylase synthesis, J Biol Chem, 237, 3633, 10.1016/S0021-9258(19)84499-X
Landman, 1976, A sensitive assay for biotin analogs and biotin-proteins, Int J Vit Nutr Res, 46, 310
Spencer, 1964, Biotin transport by small intestine of rat, hamster, and other species, Am J Physiol, 206, 653, 10.1152/ajplegacy.1964.206.3.653