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Last Updated: 01/07/2026

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Found 2063 publications

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

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

Journal: Polish archives of internal medicine
Published: December 09, 2025

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

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.

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.

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

A case of cblF type methylmalonic aciduria and homocystinuria

Journal: Zhonghua er ke za zhi = Chinese journal of pediatrics
Published: October 14, 2025

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).

Journal: Molecular genetics and metabolism
Published: September 18, 2025

Experimental insights into MMACHC variants using a novel minigene system.

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.

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

Journal: Biosensors & bioelectronics
Published: August 06, 2025

Think classical homocystinuria if the genetic test did not confirm Marfan syndrome: Late diagnosis and phenotypic variability in adult siblings with classical homocystinuria.

Think classical homocystinuria if the genetic test did not confirm Marfan syndrome: Late diagnosis and phenotypic variability in adult siblings with classical homocystinuria.

Journal: Molecular genetics and metabolism reports
Published: July 22, 2025

Case Report: Cerebellar microhemorrhages: an underrecognized feature of MMA-HC revealed by high-field 7.0 T MRI.

Case Report: Cerebellar microhemorrhages: an underrecognized feature of MMA-HC revealed by high-field 7.0 T MRI.

Journal: Frontiers in radiology
Published: June 26, 2025

Kidney Stone Disease: Epigenetic Dysregulation in Homocystinuria and Mitochondrial Sulfur Trans-Sulfuration Ablation Driven by COVID-19 Pathophysiology.

Kidney Stone Disease: Epigenetic Dysregulation in Homocystinuria and Mitochondrial Sulfur Trans-Sulfuration Ablation Driven by COVID-19 Pathophysiology.

Journal: Biomolecules
Published: June 24, 2025

Understanding the Impact of Mutations in the Cystathionine Beta-Synthase Gene: Towards Novel Therapeutics for Homocystinuria.

Understanding the Impact of Mutations in the Cystathionine Beta-Synthase Gene: Towards Novel Therapeutics for Homocystinuria.

Journal: Molecular and cellular biology
Published: June 11, 2025
Showing 1-12 of 2,063

Last Updated: 01/07/2026