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3. The measurement of propionyl-CoA carboxylase and pyruvate carboxylase activity in hair roots: its use in the diagnosis of inherited biotin-dependent enzyme deficiencies. Wolf B; Raetz H Clin Chim Acta; 1983 May; 130(1):25-30. PubMed ID: 6851181 [TBL] [Abstract][Full Text] [Related]
4. 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]
5. 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]
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. 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]
16. Intermittent ataxia and immunodeficiency with multiple carboxylase deficiencies: a biotin-responsive disorder. Sander JE; Malamud N; Cowan MJ; Packman S; Amman AJ; Wara DW Ann Neurol; 1980 Nov; 8(5):544-7. PubMed ID: 7436398 [TBL] [Abstract][Full Text] [Related]
17. Propionyl-CoA carboxylase deficiency in a patient with biotin-responsive 3-methylcrotonylglycinuria. Sweetman L; Bates SP; Hull D; Nyhan WL Pediatr Res; 1977 Nov; 11(11):1144-7. PubMed ID: 917614 [TBL] [Abstract][Full Text] [Related]
18. 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]
19. Protein-bound biotin: a consideration in multiple carboxylase deficiency. Suchy SF; Wolf B Lancet; 1982 Jan; 1(8263):108. PubMed ID: 6119473 [No Abstract] [Full Text] [Related]