Homocystinuria due to MTHFR Deficiency Latest Advances

Basic Science and Pathogenesis.

Journal: Alzheimer's & dementia : the journal of the Alzheimer's Association

Published: December 24, 2025

Novel MTHFR variants manifesting with hereditary spastic paraplegia and recurrent pulmonary embolism: a case report and literature review of adult-onset severe MTHFR deficiency.

Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

Published: November 13, 2025

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

Impaired folate metabolism reshapes auditory response profiles and impairs loudness perception in MTHFR-deficient mice.

Journal: Neurobiology of disease

Published: January 21, 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

Expanding the Phenotypic Spectrum of Methylenetetrahydrofolate Reductase (MTHFR) Deficiency in Childhood: A Case Series.

Journal: Clinical case reports

Published: August 15, 2024

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

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