The world's first wiki where authorship really matters (Nature Genetics, 2008). Due credit and reputation for authors. Imagine a global collaborative knowledge base for original thoughts. Search thousands of articles and collaborate with scientists around the globe.

wikigene or wiki gene protein drug chemical gene disease author authorship tracking collaborative publishing evolutionary knowledge reputation system wiki2.0 global collaboration genes proteins drugs chemicals diseases compound
Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
MeSH Review

Holocarboxylase Synthetase Deficiency

Welcome! If you are familiar with the subject of this article, you can contribute to this open access knowledge base by deleting incorrect information, restructuring or completely rewriting any text. Read more.

Disease relevance of Holocarboxylase Synthetase Deficiency


High impact information on Holocarboxylase Synthetase Deficiency


Biological context of Holocarboxylase Synthetase 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. Biotin dependency due to a defect in biotin transport. Mardach, R., Zempleni, J., Wolf, B., Cannon, M.J., Jennings, M.L., Cress, S., Boylan, J., Roth, S., Cederbaum, S., Mock, D.M. J. Clin. Invest. (2002) [Pubmed]
  3. Holocarboxylase synthetase deficiency: a treatable metabolic disorder masquerading as cerebral palsy. Livne, M., Gibson, K.M., Amir, N., Eshel, G., Elpeleg, O.N. J. Child Neurol. (1994) [Pubmed]
  4. Biotin-responsive multiple carboxylase deficiency in an 8-year-old boy with normal serum biotinidase and fibroblast holocarboxylase-synthetase activities. Holme, E., Jacobson, C.E., Kristiansson, B. J. Inherit. Metab. Dis. (1988) [Pubmed]
  5. Partial response to biotin therapy in a patient with holocarboxylase synthetase deficiency: clinical, biochemical, and molecular genetic aspects. Santer, R., Muhle, H., Suormala, T., Baumgartner, E.R., Duran, M., Yang, X., Aoki, Y., Suzuki, Y., Stephani, U. Mol. Genet. Metab. (2003) [Pubmed]
WikiGenes - Universities