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

  • Published:1999-05 Issue:3 Volume:22 Page:240-242
  • ISSN:0141-8955
  • Container-title:Journal of Inherited Metabolic Disease
  • language:en
  • Short-container-title:J Inherit Metab Dis

Author:

Abeling N. G. G. M.1,van Gennip A. H.1,Blom H.2,Wevers R. A.2,Vreken P.1,van Tinteren H. L. G.3,Bakker H. D.1

Affiliation:

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

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

3. Pediatric Department; Ziekenhuis Hilversum; Hilversum The Netherlands

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference6 articles.

1. Thermolabile 510-methylenetetrahydrofolate reductase as a cause of mild hyperhomocysteinemia;Engbersen;Am J Hum Genet,1995

2. Betaine dose and treatment intervals in therapy for homocystinuria due to 510-methylenetetrahydrofolate reductase deficiency;Sakura;J Inher Metab Dis,1998

3. Rapid high-performance liquid chromatographic assay for total homocysteine levels in human serum;Ubbink;J Chromatogr,1991

4. Betaine in the treatment of homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency;Wendel;Eur J Pediatr,1984

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