casereports.bmj3mon
Novel methylenetetrahydrofolate reductase (MTHFR) mutation presenting with neonatal encephalopathy, hair loss and marfanoid features
The condition deteriorated rapidly, and unfortunately, death occurred before a definitive diagnosis could be established. Tandem mass spectrometry suggested low methionine and clinical exome ...
Hosted on MSN24y
How this Woman's "Green House" Nearly Killed Her
New York Times’ bestselling author, Elena Amsterdam was diagnosed with multiple sclerosis in 2006, but was able to manage her condition and live well for a number of years- that is, until she moved ...
The Georgia Straight1mon
Top 6 Best Iron Supplement for MTHFR in 2025
However, people with MTHFR gene mutations may find it challenging to absorb and use iron effectively, resulting in iron deficiency anemia. Iron supplements are an effective way to boost iron ...
BMJ1y
1034 A Hypotonic Infant with Methylene Tetrahydrofolate Reductase (MTHFR) Deficiency; Homozygous Mutation of C.1015T>G in Mtfhr Gene
MTHFR deficiency was suspected, and treatment with folinic acid, vitamin B12, methionine and betaine was initiated. The peripheral blood DNA analysis of the patient demonstrated a homozygous mutation ...
bjo.bmj4mon
Hyperhomocyst(e)inaemia, but not MTHFR C677T mutation, as a risk factor for non-arteritic ischaemic optic neuropathy
A point mutation of methylene tetrahydrofolate reductase (MTHFR C677T) has been associated with increased plasma homocyst(e)ine levels. To investigate whether hyperhomocyst(e)inaemia and/or MTHFR ...
BMJ8mon
Methotrexate related adverse effects in patients with rheumatoid arthritis are associated with the A1298C polymorphism of the MTHFR gene
Correspondence to: Dr Y Berkun Department of Paediatrics, Bikur Cholim General Hospital, POB 492, Jerusalem 91004, Israel; berkunmd.huji.ac.il Background: There is an association between C677T ...
gut.bmj2mon
Increased prevalence of methylenetetrahydrofolate reductase C677T variant in patients with inflammatory bowel disease, and its clinical implications
METHODS Patients with established IBD (n=174) and healthy controls (n=273) were studied. DNA samples were genotyped for the MTHFR (C677T) mutation. Subjects were categorised as homozygous for the ...