Homocystinuria due to MTHFR Deficiency Latest Advances

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

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

Homocystinuria due to MTHFR Deficiency Latest Advances

Find the Latest Research About Homocystinuria due to MTHFR Deficiency

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

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

Characteristics of clinical manifestations and molecular genetics of inherited hyperhomocysteinemia in children and adolescents: a single center experience from China.

Characteristics of clinical manifestations and molecular genetics of inherited hyperhomocysteinemia in children and adolescents: a single center experience from China.

Development of a novel liquid chromatography-tandem mass spectrometry based enzymatic assay of 5,10-methylenetetrahydrofolate reductase.

Development of a novel liquid chromatography-tandem mass spectrometry based enzymatic assay of 5,10-methylenetetrahydrofolate reductase.

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

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

Severe hyperhomocysteinemia due to MTHFR deficiency caused by a new mutation: A case report and literature review.

Severe hyperhomocysteinemia due to MTHFR deficiency caused by a new mutation: A case report and literature review.

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

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

RNA sequencing combined with whole-exome sequencing revealed familial homocystinemia due to MTHFR deficiency and its complex splicing events.

RNA sequencing combined with whole-exome sequencing revealed familial homocystinemia due to MTHFR deficiency and its complex splicing events.

Comparison of Cystathionine Beta-Synthase (CBS) and Methylene Tetrahydrofolate Reductase (MTHFR) Deficiency in Children with Homocystinuria.

Comparison of Cystathionine Beta-Synthase (CBS) and Methylene Tetrahydrofolate Reductase (MTHFR) Deficiency in Children with Homocystinuria.

MTHFR polymorphisms and vitamin B12 deficiency: correlation between mthfr polymorphisms and clinical and laboratory findings.

MTHFR polymorphisms and vitamin B12 deficiency: correlation between mthfr polymorphisms and clinical and laboratory findings.

Analysis of 9 patients with adolescence-onset methylenetetrahydrofolate reductase deficiency

Analysis of 9 patients with adolescence-onset methylenetetrahydrofolate reductase deficiency

A case of MTHFR deficiency characterized by adult-onset spastic paraplegia.

A case of MTHFR deficiency characterized by adult-onset spastic paraplegia.

Outcomes after newborn screening for propionic and methylmalonic acidemia and homocystinurias.

Outcomes after newborn screening for propionic and methylmalonic acidemia and homocystinurias.