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4. 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]
5. 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]
6. Late-onset holocarboxylase synthetase-deficiency: pre- and post-natal diagnosis and evaluation of effectiveness of antenatal biotin therapy. Suormala T; Fowler B; Jakobs C; Duran M; Lehnert W; Raab K; Wick H; Baumgartner ER Eur J Pediatr; 1998 Jul; 157(7):570-5. PubMed ID: 9686819 [TBL] [Abstract][Full Text] [Related]
7. Holocarboxylase synthetase deficiency: early diagnosis and management of a new case. Fuchshuber A; Suormala T; Roth B; Duran M; Michalk D; Baumgartner ER Eur J Pediatr; 1993 May; 152(5):446-9. PubMed ID: 8319716 [TBL] [Abstract][Full Text] [Related]
14. Holocarboxylase synthetase deficiency: 9-year follow-up of a patient on chronic biotin therapy and a review of the literature. Michalski AJ; Berry GT; Segal S J Inherit Metab Dis; 1989; 12(3):312-6. PubMed ID: 2515372 [TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]