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2. Biotin activation of carboxylase activity in cultured fibroblasts from a child with a combined carboxylase defect. Bartlett K; Gompertz D Clin Chim Acta; 1978 Mar; 84(3):399-401. PubMed ID: 639329 [No Abstract] [Full Text] [Related]
3. A combined defect of three mitochondrial carboxylases presenting as biotin-responsive 3-methylcrotonyl glycinuria and 3-hydroxyisovaleric aciduria. Bartlett K; Ng H; Leonard JV Clin Chim Acta; 1980 Jan; 100(2):183-6. PubMed ID: 6766095 [TBL] [Abstract][Full Text] [Related]
4. Heterogeneity of holocarboxylase synthetase in patients with biotin-responsive multiple carboxylase deficiency. Burri BJ; Sweetman L; Nyhan WL Am J Hum Genet; 1985 Mar; 37(2):326-37. PubMed ID: 3920902 [TBL] [Abstract][Full Text] [Related]
5. Five patients with a biotin-responsive defect in holocarboxylase formation: evaluation of responsiveness to biotin therapy in vivo and comparative biochemical studies in vitro. Suormala T; Fowler B; Duran M; Burtscher A; Fuchshuber A; Tratzmüller R; Lenze MJ; Raab K; Baur B; Wick H; Baumgartner R Pediatr Res; 1997 May; 41(5):666-73. PubMed ID: 9128289 [TBL] [Abstract][Full Text] [Related]
6. Mutant holocarboxylase synthetase: evidence for the enzyme defect in early infantile biotin-responsive multiple carboxylase deficiency. Burri BJ; Sweetman L; Nyhan WL J Clin Invest; 1981 Dec; 68(6):1491-5. PubMed ID: 6798072 [TBL] [Abstract][Full Text] [Related]
7. Biotinidase deficiency in juvenile multiple carboxylase deficiency. Thoene J; Wolf B Lancet; 1983 Aug; 2(8346):398. PubMed ID: 6135890 [No Abstract] [Full Text] [Related]
8. Enzyme studies in combined carboxylase deficiency. Bartlett K; Ghneim HK; Stirk JH; Wastell HJ; Sherratt HS; Leonard JV Ann N Y Acad Sci; 1985; 447():235-51. PubMed ID: 2861780 [No Abstract] [Full Text] [Related]
9. Clinical and biochemical findings on a child with multiple biotin-responsive carboxylase deficiencies. Narisawa K; Arai N; Igarashi Y; Satoh T; Tada K; Hirooka Y J Inherit Metab Dis; 1982; 5(2):67-8. PubMed ID: 6133032 [No Abstract] [Full Text] [Related]
10. Search for the biochemical basis of biotin dependent multiple carboxylase deficiencies: determination of biotin activation in cultured fibroblasts. Zamboni M; Gaudry M; Marquet A; Munnich A; Saudubray JM; Marsac C Clin Chim Acta; 1982 Jul; 122(2):241-8. PubMed ID: 7105410 [No Abstract] [Full Text] [Related]
11. Biochemical characterization of biotin-responsive multiple carboxylase deficiency: heterogeneity within the bio genetic complementation group. Feldman GL; Hsia YE; Wolf B Am J Hum Genet; 1981 Sep; 33(5):692-701. PubMed ID: 6794361 [TBL] [Abstract][Full Text] [Related]
13. Stimulation of propionyl CoA and beta-methylcrotonyl CoA carboxylase activities in human leukocytes and cultured fibroblasts by biotin. Wolf B; Rosenberg LE Pediatr Res; 1979 Nov; 13(11):1275-9. PubMed ID: 514693 [No Abstract] [Full Text] [Related]
14. Evidence for a defect of holocarboxylase synthetase activity in cultured lymphoblasts from a patient with biotin-responsive multiple carboxylase deficiency. Saunders ME; Sherwood WG; Duthie M; Surh L; Gravel RA Am J Hum Genet; 1982 Jul; 34(4):590-601. PubMed ID: 7102675 [TBL] [Abstract][Full Text] [Related]
15. Deficiency of propionyl-Co A carboxylase and methylcrotonyl-Co A carboxylase in a patient with methylcrotonylglycinuria. Weyler W; Sweetman L; Maggio DC; Nyhan WL Clin Chim Acta; 1977 May; 76(3):321-8. PubMed ID: 858206 [TBL] [Abstract][Full Text] [Related]
16. Reassessment of biotin-responsiveness in "unresponsive" propionyl CoA carboxylase deficiency. Wolf B J Pediatr; 1980 Dec; 97(6):964-6. PubMed ID: 7441430 [No Abstract] [Full Text] [Related]
17. Biochemical evidence for diverse etiologies in biotin-responsive multiple carboxylase deficiency. Packman S; Caswell NM; Baker H Biochem Genet; 1982 Feb; 20(1-2):17-28. PubMed ID: 6807281 [TBL] [Abstract][Full Text] [Related]
19. Studies on cultured fibroblasts from patients with defects of biotin-dependent carboxylation. Bartlett K; Ng H; Dale G; Green A; Leonard JV J Inherit Metab Dis; 1981; 4(4):183-9. PubMed ID: 6118468 [No Abstract] [Full Text] [Related]
20. Evaluation of biotin responsiveness in cultured fibroblasts from patients with propionic acidemia: absence of response by structurally altered carboxylases. Wolf B Biochem Genet; 1979 Aug; 17(7-8):709-13. PubMed ID: 540014 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]