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Holocarboxylase synthetase deficiency: Urinary metabolites masked by gross ketosis

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Journal of Inherited Metabolic Disease

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REFERENCE

  • Suormala T, Fowler B, Duran M, et al (1997) Five patients with a biotin-responsive defect in holocarboxylase formation: evaluation of responsiveness to biotin therapy in vivo and comparative biochemical studies in vitro. Pediatr Res 41: 666–673.

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Authors and Affiliations

  1. NSW Biochemical Genetics Service and Western Sydney Genetics Program, The New Children's Hospital, PO Box 3515, Parramatta, NSW, 2124

    K. H. Carpenter

  2. NSW Biochemical Genetics Service and Western Sydney Genetics Program, The New Children's Hospital, PO Box 3515, Parramatta, NSW, 2124

    B. Wilcken & J. Christodoulou

  3. Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, VIC3052, Australia

    D. R. Thorburn

Authors
  1. K. H. Carpenter
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  2. B. Wilcken
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  3. J. Christodoulou
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  4. D. R. Thorburn
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Carpenter, K.H., Wilcken, B., Christodoulou, J. et al. Holocarboxylase synthetase deficiency: Urinary metabolites masked by gross ketosis. J Inherit Metab Dis 23, 845–846 (2000). https://doi.org/10.1023/A:1026721021233

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  • DOI: https://doi.org/10.1023/A:1026721021233

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