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MeSH Review

Multiple Carboxylase Deficiency

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Disease relevance of Multiple Carboxylase Deficiency


High impact information on Multiple Carboxylase Deficiency


Chemical compound and disease context of Multiple Carboxylase Deficiency


Biological context of Multiple Carboxylase Deficiency


Anatomical context of Multiple Carboxylase Deficiency


Gene context of Multiple Carboxylase Deficiency


  1. Lactic acidosis in biotin-responsive multiple carboxylase deficiency caused by holocarboxylase synthetase deficiency of early and late onset. Sherwood, W.G., Saunders, M., Robinson, B.H., Brewster, T., Gravel, R.A. J. Pediatr. (1982) [Pubmed]
  2. Biochemical investigation of young hospitalized Chinese children: results over a 7-year period. Pang, C.P., Law, L.K., Mak, Y.T., Shek, C.C., Cheung, K.L., Mak, T.W., Lam, C.W., Chan, A.Y., Fok, T.F. Am. J. Med. Genet. (1997) [Pubmed]
  3. Late-onset holocarboxylase synthetase deficiency. Gibson, K.M., Bennett, M.J., Nyhan, W.L., Mize, C.E. J. Inherit. Metab. Dis. (1996) [Pubmed]
  4. Impaired intestinal absorption of biotin in juvenile multiple carboxylase deficiency. Thoene, J.G., Lemons, R., Baker, H. N. Engl. J. Med. (1983) [Pubmed]
  5. Deficient biotinidase activity in late-onset multiple carboxylase deficiency. Wolf, B., Grier, R.E., Parker, W.D., Goodman, S.I., Allen, R.J. N. Engl. J. Med. (1983) [Pubmed]
  6. Complementation studies of isovaleric acidemia and glutaric aciduria type II using cultured skin fibroblasts. Dubiel, B., Dabrowski, C., Wetts, R., Tanaka, K. J. Clin. Invest. (1983) [Pubmed]
  7. Mutant holocarboxylase synthetase: evidence for the enzyme defect in early infantile biotin-responsive multiple carboxylase deficiency. Burri, B.J., Sweetman, L., Nyhan, W.L. J. Clin. Invest. (1981) [Pubmed]
  8. Holocarboxylase synthetase is an obligate participant in biotin-mediated regulation of its own expression and of biotin-dependent carboxylases mRNA levels in human cells. Solórzano-Vargas, R.S., Pacheco-Alvarez, D., León-Del-Río, A. Proc. Natl. Acad. Sci. U.S.A. (2002) [Pubmed]
  9. 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, M.C., Kadlecek, T., Cann, H., Rassin, D., McKay, C. Am. J. Hum. Genet. (1984) [Pubmed]
  10. Biotin-responsive immunoregulatory dysfunction in multiple carboxylase deficiency. Fischer, A., Munnich, A., Saudubray, J.M., Mamas, S., Coudé, F.X., Charpentier, C., Dray, F., Frézal, J., Griscelli, C. J. Clin. Immunol. (1982) [Pubmed]
  11. Neonatal screening for biotinidase deficiency. Forman, D.T., Bankson, D.D., Highsmith, W.E. Ann. Clin. Lab. Sci. (1992) [Pubmed]
  12. Holocarboxylase synthetase deficiency: report of a case with onset in late infancy. Touma, E., Suormala, T., Baumgartner, E.R., Gerbaka, B., Ogier de Baulny, H., Loiselet, J. J. Inherit. Metab. Dis. (1999) [Pubmed]
  13. Rapid differential diagnosis of carboxylase deficiencies and evaluation for biotin-responsiveness in a single blood sample. Suormala, T., Wick, H., Bonjour, J.P., Baumgartner, E.R. Clin. Chim. Acta (1985) [Pubmed]
  14. Lipid metabolism in biotin-responsive multiple carboxylase deficiency. Gonzalez-Rios, M.C., Whitney, S.C., Williams, M.L., Elias, P.M., Packman, S. J. Inherit. Metab. Dis. (1985) [Pubmed]
  15. Stable isotope dilution analysis of 3-hydroxyisovaleric acid in amniotic fluid: contribution to the prenatal diagnosis of inherited disorders of leucine catabolism. Jakobs, C., Sweetman, L., Nyhan, W.L., Packman, S. J. Inherit. Metab. Dis. (1984) [Pubmed]
  16. Biotinidase deficiency: a novel vitamin recycling defect. Wolf, B., Grier, R.E., Secor McVoy, J.R., Heard, G.S. J. Inherit. Metab. Dis. (1985) [Pubmed]
  17. A genomic approach to mutation analysis of holocarboxylase synthetase gene in three Chinese patients with late-onset holocarboxylase synthetase deficiency. Tang, N.L., Hui, J., Yong, C.K., Wong, L.T., Applegarth, D.A., Vallance, H.D., Law, L.K., Fung, S.L., Mak, T.W., Sung, Y.M., Cheung, K.L., Fok, T.F. Clin. Biochem. (2003) [Pubmed]
  18. Multiple carboxylase deficiency: clinical and biochemical improvement following neonatal biotin treatment. Wolf, B., Hsia, Y.E., Sweetman, L., Feldman, G., Boychuk, R.B., Bart, R.D., Crowell, D.H., Di Mauro, R.M., Nyhan, W.L. Pediatrics (1981) [Pubmed]
  19. Metabolism of 1-13C-propionate in vivo in patients with disorders of propionate metabolism. Barshop, B.A., Yoshida, I., Ajami, A., Sweetman, L., Wolff, J.A., Sweetman, F.R., Prodanos, C., Smith, M., Nyhan, W.L. Pediatr. Res. (1991) [Pubmed]
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