Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency
M Huemer, D Diodato, B Schwahn, M Schiff… - Journal of inherited …, 2017 - Springer
Background Remethylation defects are rare inherited disorders in which impaired
remethylation of homocysteine to methionine leads to accumulation of homocysteine and …
remethylation of homocysteine to methionine leads to accumulation of homocysteine and …
Diagnostic yield of genetic testing in epileptic encephalopathy in childhood
S Mercimek‐Mahmutoglu, J Patel, D Cordeiro… - …, 2015 - Wiley Online Library
Objective Epilepsy is a common neurologic disorder of childhood. To determine the genetic
diagnostic yield in epileptic encephalopathy, we performed a retrospective cohort study in a …
diagnostic yield in epileptic encephalopathy, we performed a retrospective cohort study in a …
Survival and psychomotor development with early betaine treatment in patients with severe methylenetetrahydrofolate reductase deficiency
EF Diekman, TJ De Koning, NM Verhoeven-Duif… - JAMA …, 2014 - jamanetwork.com
Importance The impact of betaine treatment on outcome in patients with severe
methylenetetrahydrofolate reductase (MTHFR) deficiency is presently unclear. Objective To …
methylenetetrahydrofolate reductase (MTHFR) deficiency is presently unclear. Objective To …
Mutation update and review of severe methylenetetrahydrofolate reductase deficiency
DS Froese, M Huemer, T Suormala, P Burda… - Human …, 2016 - Wiley Online Library
ABSTRACT Severe 5, 10‐methylenetetrahydrofolate reductase (MTHFR) deficiency is
caused by mutations in the MTHFR gene and results in hyperhomocysteinemia and varying …
caused by mutations in the MTHFR gene and results in hyperhomocysteinemia and varying …
Insights into severe 5, 10‐methylenetetrahydrofolate reductase deficiency: molecular genetic and enzymatic characterization of 76 patients
P Burda, A Schäfer, T Suormala, T Rummel… - Human …, 2015 - Wiley Online Library
Methylenetetrahydrofolate reductase (MTHFR) deficiency is the most common inherited
disorder of folate metabolism and causes severe hyperhomocysteinaemia. To better …
disorder of folate metabolism and causes severe hyperhomocysteinaemia. To better …
Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency
M Huemer, R Mulder-Bleile, P Burda… - Journal of inherited …, 2016 - Springer
Background Severe methylenetetrahydrofolate reductase (MTHFR) deficiency is a rare
inborn defect disturbing the remethylation of homocysteine to methionine (< 200 reported …
inborn defect disturbing the remethylation of homocysteine to methionine (< 200 reported …
Thrombophilia genetic mutations and their relation to disease severity among patients with COVID-19
Objectives Patients with COVID-19 infection appear to develop virus-induced
hypercoagulability resulting in numerous thrombotic events. The aim of the present study …
hypercoagulability resulting in numerous thrombotic events. The aim of the present study …
Effects of MTHFR and ABCC2 gene polymorphisms on antiepileptic drug responsiveness in Jordanian epileptic patients
LN Al-Eitan, IM Al-Dalalah, MM Mustafa… - Pharmacogenomics …, 2019 - Taylor & Francis
Background Epilepsy is one of the most common neurological diseases with unclear
etiology where its genetic background and treatment regime still need further exploration …
etiology where its genetic background and treatment regime still need further exploration …
Association between MTHFR C677T and A1298C, and MTRR A66G polymorphisms and susceptibility to schizophrenia in a Syrian study cohort
The folate–homocystiene metabolic pathway has been shown to be involved in the
susceptibility for developing schizophrenia by several studies. In the present study we …
susceptibility for developing schizophrenia by several studies. In the present study we …
Severe 5, 10-methylenetetrahydrofolate reductase deficiency and two MTHFR variants in an adolescent with progressive myoclonic epilepsy
ED Kristin, D Bearden, D Watkins, K Hyland… - Pediatric …, 2014 - Elsevier
Abstract Background 5, 10-Methylenetetrahydrofolate reductase (MTHFR) deficiency is an
inborn error of the folate-recycling pathway that affects the remethylation of homocysteine to …
inborn error of the folate-recycling pathway that affects the remethylation of homocysteine to …