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3. 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]
4. Deficiency of biotinyl-AMP synthetase activity in fibroblasts of patients with holocarboxylase synthetase deficiency. Morita J; Thuy LP; Sweetman L Mol Genet Metab; 1998 Aug; 64(4):250-5. PubMed ID: 9758715 [TBL] [Abstract][Full Text] [Related]
5. Acetyl CoA carboxylase in cultured fibroblasts: differential biotin dependence in the two types of biotin-responsive multiple carboxylase deficiency. Packman S; Caswell N; Gonzalez-Rios MC; Kadlecek T; Cann H; Rassin D; McKay C Am J Hum Genet; 1984 Jan; 36(1):80-92. PubMed ID: 6141728 [TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. 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]
9. 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]
10. 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]
11. First prenatal molecular diagnosis in a family with holocarboxylase synthetase deficiency. Malvagia S; Morrone A; Pasquini E; Funghini S; la Marca G; Zammarchi E; Donati MA Prenat Diagn; 2005 Dec; 25(12):1117-9. PubMed ID: 16231399 [TBL] [Abstract][Full Text] [Related]
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17. Holocarboxylase synthetase deficiency: a biotin-responsive organic acidemia. Roth KS; Yang W; Foremann JW; Rothman R; Segal S J Pediatr; 1980 May; 96(5):845-9. PubMed ID: 7365583 [TBL] [Abstract][Full Text] [Related]
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20. Diagnosis and molecular analysis of an atypical case of holocarboxylase synthetase deficiency. Sakamoto O; Suzuki Y; Li X; Aoki Y; Hiratsuka M; Holme E; Kudoh J; Shimizu N; Narisawa K Eur J Pediatr; 2000; 159(1-2):18-22. PubMed ID: 10653324 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]