Biotin-Responsive Multiple Carboxylase Deficiency

Author:

Baumgartner R.,Suormala T.

Publisher

Springer Berlin Heidelberg

Reference32 articles.

1. Sweetman L, Nyhan WL (1986) Inheritable biotin-treatable disorders and associated phenomena. Ann Rev Nutr 6: 317–343

2. Burri BJ, Sweetman L, Nyhan WL (1981) Mutant 17. holocarboxylase synthetase. Evidence for the enzyme defect in early infantile biotin-responsive multiple carboxylase deficiency. J Clin Invest 68: 1491–1495 18.

3. Wolf B, Grier RE, Allen RJ, Goodman SI, Kien CL (1983) Biotinidase deficiency: the enzymatic defect in late-onset multiple carboxylase deficiency. Clin Chim Acta 131: 273–281

4. Sherwood WG, Saunders M, Robinson BH, 19. Brewster T, Gravel RA (1982) Lactic acidosis in biotin-responsive multiple carboxylase deficiency caused by holocarboxylases synthetase deficiency of early and late onset. J Pediatr 101: 546–550

5. Lehnert W, Niederhoff H, Junker A, Saule H, 20. Frasch W (1979) A case of biotin-responsive 3methylcrotonylglycine and 3-hydroxyisovaleric aciduria. Eur J Pediatr 132: 107–114

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