NEW MUTATION IDENTIFIED IN FOUR UNRELATED PATIENTS WITH METHYLENETETRAHYDROFOLATE REDUCTASE DEFICIENCY. † 843
نویسندگان
چکیده
منابع مشابه
Methylenetetrahydrofolate Reductase Polymorphisms in Iranian Patients with Glanzmann’s Thrombasthenia
Background: The most common polymorphisms identified in the Methylenetetrahydrofolate reductase (MTHFR) gene, C677T and A1298C lead to defective activity of this enzyme and increase the risk of venous and arterial thrombosis. There are limited investigations regarding the effects of thrombogenic polymorphisms on the clinical phenotypes of rare hereditary hemorrhagic disorders like Glanzmann's t...
متن کاملLong term treatment with betaine in methylenetetrahydrofolate reductase deficiency.
A girl aged 7.5 years with deficiency of 5,10-methylenetetrahydrofolate reductase was treated from early infancy with betaine, 3-6 g daily. She has slight microcephaly, moderate developmental delay, and impaired vision but there have been no obvious signs of folate deficiency. From 4 years of age, she developed an unexplained extreme increase in appetite and weight. Recent magnetic resonance im...
متن کاملMethylenetetrahydrofolate Reductase Mutation and Coronary Artery Disease
authors and five references. They should not have tables or figures and should relate solely to an article published in Circulation within the preceding 12 weeks. Only some letters will be published. Authors of those selected for publication will receive prepublication proofs, and authors of the article cited in the letter will be invited to reply. Replies must be signed by all authors listed i...
متن کاملMethylenetetrahydrofolate reductase mutation and coronary artery disease.
authors and five references. They should not have tables or figures and should relate solely to an article published in Circulation within the preceding 12 weeks. Only some letters will be published. Authors of those selected for publication will receive prepublication proofs, and authors of the article cited in the letter will be invited to reply. Replies must be signed by all authors listed i...
متن کاملSurvival and psychomotor development with early betaine treatment in patients with severe methylenetetrahydrofolate reductase deficiency.
IMPORTANCE The impact of betaine treatment on outcome in patients with severe methylenetetrahydrofolate reductase (MTHFR) deficiency is presently unclear. OBJECTIVE To investigate the effect of betaine treatment on development and survival in patients with severe MTHFR deficiency. DATA SOURCES MEDLINE, EMBASE, and Cochrane databases between January 1960 and December 2012. STUDY SELECTION ...
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ژورنال
عنوان ژورنال: Pediatric Research
سال: 1996
ISSN: 0031-3998,1530-0447
DOI: 10.1203/00006450-199604001-00865