Folate‐responsive homocystinuria and megaloblastic anaemia in a female patient with functional methionine synthase deficiency (cblE disease)
- 1 November 1997
- journal article
- case report
- Published by Wiley in Journal of Inherited Metabolic Disease
- Vol. 20 (6) , 731-741
- https://doi.org/10.1023/a:1005372730310
Abstract
This first detailed report of a female patient with functional methionine synthase deficiency due to the cblE defect describes treatment with several vitamins and cofactors and clinical progress for ...Keywords
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