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Isolated (biotin-resistant) 3-methylcrotonyl-CoA carboxylase deficiency: four sibs devoid of pathology

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Journal of Inherited Metabolic Disease

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References

  • Dixon MA, Leonard JV (1992) Intercurrent illness in inborn errors of intermediary metabolism.Arch Dis Child 67: 1387–1391.

    Article  PubMed  CAS  Google Scholar 

  • Duran M, Baumgartner ER, Suormala TM et al (1993) Cerebrospinal fluid organic acids in biotinidase deficiency.J Inher Metab Dis 16:513–516.

    Article  PubMed  CAS  Google Scholar 

  • Sweetman L, Williams JC (1995) Branched chain organic acidurias. In Scriver CR, Beaudet AL, Sly WS, Valle D, eds.The Metabolic and Molecular Bases of Inherited Disease, 7th edn. New York: McGraw-Hill, 1387–1422.

    Google Scholar 

  • Wevers RA, Engelke U, Wendel U, de Jong JGN, Gabrëels FJM, Heerschap A (1995) A standardized method for high resolution1H-NMR spectroscopy of cerebrospinal, fluid for neurometabolic studies.Clin Chem 41: 744–751.

    PubMed  CAS  Google Scholar 

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Authors and Affiliations

  1. Department of Pediatrics, University Hospital of Nijmegen, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands

    J. Mourmans, J. Bakkeren & U. Wendel

  2. Department of Neurology, University Hospital of Nijmegen, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands

    J. de Jong & R. Wevers

  3. Department of Clinical Genetics, Erasmus University, Rotterdam, The Netherlands

    O. P. van Diggelen

  4. University Children's Hospital, Basel, Switzerland

    T. Suormala & R. Baumgartner

Authors
  1. J. Mourmans
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  2. J. Bakkeren
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  3. J. de Jong
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  4. R. Wevers
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  5. O. P. van Diggelen
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  6. T. Suormala
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  7. R. Baumgartner
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  8. U. Wendel
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Mourmans, J., Bakkeren, J., de Jong, J. et al. Isolated (biotin-resistant) 3-methylcrotonyl-CoA carboxylase deficiency: four sibs devoid of pathology. J Inherit Metab Dis 18, 643–645 (1995). https://doi.org/10.1007/BF02436014

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  • DOI: https://doi.org/10.1007/BF02436014

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