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12. 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]
13. Lactic acidosis in biotin-responsive multiple carboxylase deficiency caused by holocarboxylase synthetase deficiency of early and late onset. Sherwood WG; Saunders M; Robinson BH; Brewster T; Gravel RA J Pediatr; 1982 Oct; 101(4):546-50. PubMed ID: 6811711 [TBL] [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]
17. 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]
18. A bioassay for determining biotinidase activity and for discriminating biocytin from biotin using holocarboxylase synthetase-deficient cultured fibroblasts. Weiner DL; Grier RE; Wolf B J Inherit Metab Dis; 1985; 8 Suppl 2():101-2. PubMed ID: 3930849 [No Abstract] [Full Text] [Related]