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Rapid diagnosis and methionine administration: Basis for a favourable outcome in a patient with methylene tetrahydrofolate reductase deficiency

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Journal of Inherited Metabolic Disease

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REFERENCES

  • Engbersen AM, Franken DG, Boers GH, Stevens EM, Trijbels JMF, Blom HJ (1995) Thermolabile 510-methylenetetrahydrofolate reductase as a cause of mild hyperhomocysteinemia. Am J Hum Genet 56(1): 142–150.

    Google Scholar 

  • Rosenblatt DS (1995) Inherited disorders of folate transport and metabolism. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease, 7th edn. New York: McGraw-Hill, 3111–3128.

    Google Scholar 

  • Sakura N, Ono H, Nomura S, Ueda H, Fujita N (1998) Betaine dose and treatment intervals in therapy for homocystinuria due to 510-methylenetetrahydrofolate reductase deficiency. J Inher Metab Dis 21: 84–85.

    Google Scholar 

  • Ubbink JB, Vermaak WJH, Bissbort S (1991) Rapid high-performance liquid chromatographic assay for total homocysteine levels in human serum. J Chromatogr 565: 441–446.

    Google Scholar 

  • Wendel U, Bremer HJ (1984) Betaine in the treatment of homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency. Eur J Pediatr 142(2): 147–150.

    Google Scholar 

  • Wevers RA, Engelke U, Wendel U, de Jong JG, Gabreels FJ, Heerschap A (1995) Standardized method for high-resolution 1H-NMR of cerebrospinal fluid. Clin Chem 41(5): 744–751.

    Google Scholar 

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Authors and Affiliations

  1. Academic Medical Center, University of Amsterdam, Department of Clinical Chemistry and Div Emma Children's Hospital, Amsterdam, The Netherlands

    N. G. G. M. Abeling, A. H. van Gennip, P. Vreken & H. D. Bakker

  2. Laboratory of Pediatrics and Neurology, University Hospital Nijmegen, The Netherlands

    H. Blom & R. A. Wevers

  3. Pediatric Department, Ziekenhuis Hilversum, Hilversum, The Netherlands

    H. L. G. van Tinteren

Authors
  1. N. G. G. M. Abeling
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  2. A. H. van Gennip
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  3. H. Blom
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  4. R. A. Wevers
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  5. P. Vreken
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  6. H. L. G. van Tinteren
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  7. H. D. Bakker
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Abeling, N.G.G.M., van Gennip, A.H., Blom, H. et al. Rapid diagnosis and methionine administration: Basis for a favourable outcome in a patient with methylene tetrahydrofolate reductase deficiency. J Inherit Metab Dis 22, 240–242 (1999). https://doi.org/10.1023/A:1005509400481

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  • DOI: https://doi.org/10.1023/A:1005509400481

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