Results 41 to 50 of about 26,586 (174)

Genotypes of MTHFR.

open access: yes, 2015
Overview of prevalence (ref 6) and specific enzyme activity in vitro (ref 7) for various genotypes of MTHFR in healthy individuals, based on combinations of the polymorphisms C677T and A1298C.Genotypes of MTHFR.
Michael Matousek (202832)   +6 more
core   +1 more source

Genome‐wide association and interaction analysis for proliferative retinopathy in adults with type 2 diabetes born during famine: The DOLCE study in Ukraine

open access: yesActa Ophthalmologica, EarlyView.
Abstract Purpose Proliferative diabetic retinopathy (PDR) is one of the leading causes of blindness in working‐age adults. We have previously shown that the risk of PDR is significantly elevated in individuals with intrauterine exposure to famine. However, the genetic mechanisms mediating this association remain unknown.
Olena Fedotkina   +7 more
wiley   +1 more source

The role of the MTHFR gene in migraine

open access: yes, 2012
Migraine is a common neurological disorder and is characterized by debilitating head pain and an assortment of additional symptoms which can include nausea, emesis, photophobia, phonophobia, and occasionally, visual sensory disturbances.
Stuart, Shani   +6 more
core   +1 more source

Serum Folate Concentration Corresponding to the Red Blood Cell Folate Threshold for Increased Risk of Neural Tube Defects Among Ethiopian Women of Reproductive Age

open access: yesMaternal &Child Nutrition, EarlyView.
ABSTRACT Neural tube defects (NTDs) are severe birth defects linked to insufficient maternal folate status during early pregnancy. Red blood cell (RBC) folate concentration is the recommended biomarker for predicting NTD risk, with a threshold of 748 nmol/L using the US Centers for Disease Control and Prevention (CDC) microbiological assay. However, in
Biniyam Tesfaye   +5 more
wiley   +1 more source

No Association Between MTHFR A1298C and MTRR A66G Polymorphisms, and MS in an Australian Cohort [PDF]

open access: yes, 2007
Multiple sclerosis (MS) is a complex neurological disease that affects the central nervous system (CNS) resulting in debilitating neuropathology. Pathogenesis is primarily defined by CNS inflammation and demyelination of nerve axons.
Tajouri, Lotti   +19 more
core   +1 more source

Association of Methylenetetrahydrofolate Reductase (MTHFR-677 and MTHFR-1298) Genetic Polymorphisms with Occlusive Artery Disease and Deep Venous Thrombosis in Macedonians [PDF]

open access: yes, 2008
Cilj Ispitati moguću povezanost genetičkog polimorfizma metilen-tetrahidrofolatne reduktaze (MTHFR-677, MTHFR-1298) s okluzivnom arterijskom bolešću i dubokom venskom trombozom u Makedonaca.
Krstevska, Marija   +11 more
core   +1 more source

Assessing the Sensitivity and the Clinical Impact of the 2023 American College of Rheumatology/EULAR Classification Criteria in Obstetric Antiphospholid Syndrome: Findings From a Multicenter Italian Cohort With a Long‐Term Follow‐Up

open access: yesArthritis Care &Research, Volume 78, Issue 11, Page 1691-1700, November 2026.
Objective The aim of this study was to evaluate the sensitivity of the 2023 American College of Rheumatology (ACR)/EULAR classification criteria for antiphospholipid syndrome (APS) in a real‐world cohort of women diagnosed with primary obstetric APS (oAPS) and to assess their ability to identify patients at risk of future pregnancy complications ...
Francesca Ruffilli   +10 more
wiley   +1 more source

MTHFR C677T Polymorphisms

open access: yes, 2023
Methylenetetrahydrofolatereductase (MTHFR) is an enzyme that plays a significant role in methylation— one of the most important metabolic pathways in the human body.
Hedger, Laura E
core  

Methylenetetrahydrofolate Reductase (MTHFR) Gene rs1801133 C>T Polymorphisms and Lung Cancer Susceptibility: An Updated Meta-analysis

open access: yesPteridines, 2019
Objective: The aim of this study was to investigate the methylenetetrahydrofolate reductase (MTHFR) gene rs1801133 C>T polymorphisms and lung cancer susceptibility by pooling openly published data.
Liu Fang   +6 more
doaj   +1 more source

Essential Oral Single Nutritional Therapy Products for Inherited Metabolic Diseases: Evidence and Consensus Assessment Using a Modified Delphi Method

open access: yesJournal of Inherited Metabolic Disease, Volume 49, Issue 6, November 2026.
ABSTRACT Nutritional therapy is critical in managing inherited metabolic diseases (IMDs), and includes specialized diets and single nutritional therapy products (sNTPs) such as vitamins, cofactors, and amino acids. Many sNTPs function as medicines, but are regulated as food (e.g., food supplements), which can limit access, reimbursement, and consistent
Nina N. Stolwijk   +39 more
wiley   +1 more source

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