Insights into Severe 5, 10‐Methylenetetrahydrofolate Reductase Deficiency: Molecular Genetic and Enzymatic Characterization of 76 Patients. Issue 6 (27th April 2015)

• Record Type: Journal Article
• Authors: Burda, Patricie; Schäfer, Alexandra; Suormala, Terttu; Rummel, Till; Bürer, Céline; Heuberger, Dorothea; Frapolli, Michele; Giunta, Cecilia; Sokolová, Jitka; Vlášková, Hana; Kožich, Viktor; Koch, Hans Georg; Fowler, Brian; Froese, D. Sean; Baumgartner, Matthias R.
• Is Part Of: Human mutation. Volume 36:Issue 6(2015:Jun.)
• Page Start: 611
• Page End: 621
• Publication Date: 2015-04-27
• Subjects: Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.22779
• Languages: English
• ISSNs: 1059-7794

Abstract

<abstract abstract-type="graphical" xml:lang="en" id="humu22779-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p>We investigated molecular and biochemical defects in fibroblasts from 76 patients with severe MTHFR deficiency, the most common inherited disorder of folate metabolism. There is a good correlation between the type and location of defect at the DNA level with the manner and severity of biochemical disruption, findings which have implications for disease diagnosis and, potentially, treatment. <graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pgjn7pvk74" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></p> </abstract>