Phenotypic variation in biotinidase deficiency.
暂无分享,去创建一个
W. Parker | B. Wolf | S. Goodman | D. Hurst | C. L. Kien | R. Allen | D. Howell | R. Grier
[1] C. L. Kien,et al. Biotin deficiency with neurologic and cutaneous manifestations but without organic aciduria. , 1983, The Journal of pediatrics.
[2] B. Wolf,et al. Biotinidase deficiency: the enzymatic defect in late-onset multiple carboxylase deficiency. , 1983, Clinica chimica acta; international journal of clinical chemistry.
[3] J. Thoene,et al. Impaired intestinal absorption of biotin in juvenile multiple carboxylase deficiency. , 1983, The New England journal of medicine.
[4] W. Parker,et al. Deficient biotinidase activity in late-onset multiple carboxylase deficiency. , 1983, The New England journal of medicine.
[5] G. Feldman,et al. The biotin-dependent carboxylase deficiencies. , 1982, American journal of human genetics.
[6] L. Surh,et al. Evidence for a defect of holocarboxylase synthetase activity in cultured lymphoblasts from a patient with biotin-responsive multiple carboxylase deficiency. , 1982, American journal of human genetics.
[7] C. McClain,et al. Biotin deficiency in an adult during home parenteral nutrition. , 1982, JAMA.
[8] L. Surh,et al. Clinical and metabolic abnormalities in a boy with dietary deficiency of biotin. , 1982, Pediatrics.
[9] W. Nyhan,et al. Mutant holocarboxylase synthetase: evidence for the enzyme defect in early infantile biotin-responsive multiple carboxylase deficiency. , 1981, The Journal of clinical investigation.
[10] S. Goodman,et al. Biotin-responsive in vivo carboxylase deficiency in two siblings with secretory diarrhea receiving total parenteral nutrition. , 1981, The Journal of pediatrics.
[11] A. Munnich,et al. DEFECTIVE BIOTIN ABSORPTION IN MULTIPLE CARBOXYLASE DEFICIENCY , 1981, The Lancet.
[12] D. Mock,et al. Biotin deficiency: an unusual complication of parenteral alimentation. , 1981, The New England journal of medicine.
[13] J. Thoene,et al. Biotin-responsive carboxylase deficiency associated with subnormal plasma and urinary biotin. , 1981, The New England journal of medicine.
[14] J. Leonard,et al. Inherited disorders of 3-methylcrotonyl CoA carboxylation. , 1981, Archives of disease in childhood.
[15] J. Leonard,et al. A combined defect of three mitochondrial carboxylases presenting as biotin-responsive 3-methylcrotonyl glycinuria and 3-hydroxyisovaleric aciduria. , 1980, Clinica chimica acta; international journal of clinical chemistry.
[16] S. Packman,et al. MULTIPLE BIOTIN-DEPENDENT CARBOXYLASE DEFICIENCIES ASSOCIATED WITH DEFECTS IN T-CELL AND B-CELL IMMUNITY , 1979, The Lancet.
[17] L. Taitz,et al. BIOTIN-RESPONSIVE ALOPECIA AND DEVELOPMENTAL REGRESSION , 1979, The Lancet.
[18] B. Wolf,et al. Heterozygote expression in propionyl coenzyme A carboxylase deficiency. Differences between major complementation groups. , 1978, The Journal of clinical investigation.
[19] B. Wolf,et al. Biochemical differences between mutant propionyl-CoA carboxylases from two complementation groups. , 1978, American journal of human genetics.
[20] K. Lam,et al. Genetic complementation of propionyl-CoA carboxylase deficiency in cultured human fibroblasts. , 1977, American journal of human genetics.
[21] B. Keeton. Organic aciduria. Treatable cause of floppy infant syndrome. , 1976, Archives of disease in childhood.
[22] Duran Cg,et al. COMBINING THE ANTIDEPRESSANT DRUGS. , 1965, Lancet.
[23] R. P. Spencer,et al. BIOTIN TRANSPORT BY SMALL INTESTINE OF RAT, HAMSTER, AND OTHER SPECIES. , 1964, The American journal of physiology.
[24] M. Koivusalo,et al. Biotinidase activity in animal tissues. , 1963, Acta physiologica Scandinavica.
[25] W. P. Boger,et al. Biocytinase, an Enzyme Concerned with Hydrolytic Cleavage of Biocytin , 1954, Proceedings of the Society for Experimental Biology and Medicine. Society for Experimental Biology and Medicine.
[26] S. Markey,et al. Diagnosis of organic acidemias by gas chromatography--mass spectrometry. , 1981, Laboratory and research methods in biology and medicine.
[27] LAndman Ad. A sensitive assay for biotin analogs and biotin-proteins. , 1976, International journal for vitamin and nutrition research. Internationale Zeitschrift fur Vitamin- und Ernahrungsforschung. Journal international de vitaminologie et de nutrition.
[28] J. Moss,et al. The biotin-dependent enzymes. , 1971, Advances in enzymology and related areas of molecular biology.
[29] S. Hutner,et al. A new assay method for biotin in blood, serum, urine, and tissues. , 1962, Analytical biochemistry.