Filters
Term Search
You can select from the dropdown list OR enter your own terms to refine the search.
Last Updated: 10/31/2025
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 225 publications
Characteristics of clinical manifestations and molecular genetics of inherited hyperhomocysteinemia in children and adolescents: a single center experience from China.
Journal: Frontiers in neurology
Published: March 05, 2025
Development of a novel liquid chromatography-tandem mass spectrometry based enzymatic assay of 5,10-methylenetetrahydrofolate reductase.
Journal: Scientific reports
Published: February 18, 2025
Severe hyperhomocysteinemia due to MTHFR deficiency caused by a new mutation: A case report and literature review.
Journal: Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences
Published: January 09, 2025
RNA sequencing combined with whole-exome sequencing revealed familial homocystinemia due to MTHFR deficiency and its complex splicing events.
Journal: Gene
Published: June 28, 2024
Comparison of Cystathionine Beta-Synthase (CBS) and Methylene Tetrahydrofolate Reductase (MTHFR) Deficiency in Children with Homocystinuria.
Journal: Indian journal of pediatrics
Published: June 17, 2024
MTHFR polymorphisms and vitamin B12 deficiency: correlation between mthfr polymorphisms and clinical and laboratory findings.
Journal: Annals of hematology
Published: May 03, 2024
Analysis of 9 patients with adolescence-onset methylenetetrahydrofolate reductase deficiency
Journal: Zhonghua er ke za zhi = Chinese journal of pediatrics
Published: March 25, 2024
A case of MTHFR deficiency characterized by adult-onset spastic paraplegia.
Journal: QJM : monthly journal of the Association of Physicians
Published: October 31, 2023
Outcomes after newborn screening for propionic and methylmalonic acidemia and homocystinurias.
Journal: Journal of inherited metabolic disease
Published: September 16, 2023
Adolescent/Adult-Onset Leukodystrophy with MTHFR Deficiency - A Treatable Cause.
Journal: Neurology India
Published: May 06, 2023
Last Updated: 10/31/2025