Compound heterozygous variants of MTHFR presenting as treatable leukodystrophy with reversible visuospatial deficitsdoi:10.1007/s13760-022-01934-zChakraborty, ArkapravaMukherjee, AdreeshSarkar, SumantaDubey, SouvikGangopadhyay, GoutamActa Neurologica Belgica...
Thrombophilia testing revealed compound heterozygous MTHFR (C677T and A1298C) variants. We searched the literature for myocardial infarction in the setting of MTHFR polymorphisms and the possible pathophysiologic mechanisms. In young patients presenting with a thrombotic event, screening for thrombophilia ...
In this study, mutation analysis of three patients with homocystinuria in a Han Chinese family is described and we identified novel compound heterozygous for mutations c.407T > C (p. L136P) in exon 3and c.473C > T (p.A158V) in exon 4 of theCBSgene (Fig. 3). So far,...
This is the first report of recurrent thrombotic acute coronary syndrome (ACS) in a patient with diabetes, compound heterozygous MTHFR mutations, Behcet’s disease with normal C-reactive protein (CRP), and no evidence of diffuse coronary artery disease.Muhammad Hamza Saad Shaukat...