Homocystinuria Latest Advances

Basic Science and Pathogenesis.

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

Published: December 24, 2025

Temporal trends in homocysteine level measurements at a tertiary cardiovascular center in the years 2016-2024: prevalence of hyperhomocysteinemia and homocystinuria.

Journal: Polish archives of internal medicine

Published: December 09, 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

Correction: Choline supplementation in classic homocystinuria: impact on homocysteine and hepatic steatosis.

Journal: Pediatric research

Published: November 01, 2025

Newly diagnosed homocystinuria as a rare cause of advanced peripheral artery disease in a 41-year-old man.

Journal: Polish archives of internal medicine

Published: October 27, 2025

A pedigree with homocystinuria caused by a novel homozygous CBS gene mutation: A case report.

Journal: The Journal of international medical research

Published: October 22, 2025

A case of cblF type methylmalonic aciduria and homocystinuria

Journal: Zhonghua er ke za zhi = Chinese journal of pediatrics

Published: October 14, 2025

Structure-activity relationship of S-adenosylmethionine analogs as pharmacological chaperones for cystathionine beta-synthase-deficient homocystinuria.

Journal: International journal of biological macromolecules

Published: September 25, 2025

Underrecognized need for early detection of inborn errors of metabolism in China: A population-based study of 14.31 million residents (2012-2023).

Journal: Molecular genetics and metabolism

Published: September 18, 2025

Incidence of Organic Acid Disorders in 13 Million Chinese Newborns: A Systematic Review and Meta-Analysis.

Journal: International journal of neonatal screening

Published: September 16, 2025

Experimental insights into MMACHC variants using a novel minigene system.

Journal: Molecular genetics and metabolism

Published: September 12, 2025

A colorimetric strategy for quantifying amino acids using E. coli auxotrophs displaying gold-binding proteins.

Journal: Biosensors & bioelectronics

Published: August 06, 2025

Homocystinuria Latest Advances

Find the Latest Research About Homocystinuria

Basic Science and Pathogenesis.

Basic Science and Pathogenesis.

Temporal trends in homocysteine level measurements at a tertiary cardiovascular center in the years 2016-2024: prevalence of hyperhomocysteinemia and homocystinuria.

Temporal trends in homocysteine level measurements at a tertiary cardiovascular center in the years 2016-2024: prevalence of hyperhomocysteinemia and homocystinuria.

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.

Correction: Choline supplementation in classic homocystinuria: impact on homocysteine and hepatic steatosis.

Correction: Choline supplementation in classic homocystinuria: impact on homocysteine and hepatic steatosis.

Newly diagnosed homocystinuria as a rare cause of advanced peripheral artery disease in a 41-year-old man.

Newly diagnosed homocystinuria as a rare cause of advanced peripheral artery disease in a 41-year-old man.

A pedigree with homocystinuria caused by a novel homozygous CBS gene mutation: A case report.

A pedigree with homocystinuria caused by a novel homozygous CBS gene mutation: A case report.

A case of cblF type methylmalonic aciduria and homocystinuria

A case of cblF type methylmalonic aciduria and homocystinuria

Structure-activity relationship of S-adenosylmethionine analogs as pharmacological chaperones for cystathionine beta-synthase-deficient homocystinuria.

Structure-activity relationship of S-adenosylmethionine analogs as pharmacological chaperones for cystathionine beta-synthase-deficient homocystinuria.

Underrecognized need for early detection of inborn errors of metabolism in China: A population-based study of 14.31 million residents (2012-2023).

Underrecognized need for early detection of inborn errors of metabolism in China: A population-based study of 14.31 million residents (2012-2023).

Incidence of Organic Acid Disorders in 13 Million Chinese Newborns: A Systematic Review and Meta-Analysis.

Incidence of Organic Acid Disorders in 13 Million Chinese Newborns: A Systematic Review and Meta-Analysis.

Experimental insights into MMACHC variants using a novel minigene system.

Experimental insights into MMACHC variants using a novel minigene system.

A colorimetric strategy for quantifying amino acids using E. coli auxotrophs displaying gold-binding proteins.

A colorimetric strategy for quantifying amino acids using E. coli auxotrophs displaying gold-binding proteins.