Homocystinuria Latest Advances

Urgent need for new-born screening and clinical awareness of homocystinuria in Pakistan.

Journal: JPMA. The Journal of the Pakistan Medical Association

Published: March 14, 2026

Liver-Targeted AAV-DJ-hCBS Therapy Achieves Long-Term Correction of Metabolic Imbalance in CBS-Deficient Mice.

Journal: International journal of molecular sciences

Published: March 11, 2026

Corrigendum to "Givinostat rescues folding of cystathionine beta-synthase and ameliorates murine homocystinuria" [Biochem. Pharmacol. 239 (2025) 117079].

Journal: Biochemical pharmacology

Published: February 28, 2026

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

The first report of primary hypotonia with abnormal electromyogram and CBS mutation in a Chinese child.

Journal: BMC medical genomics

Published: December 05, 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

Encephalitis-like presentation of methylmalonic acidemia with homocystinuria in a postpartum woman: a case report.

Journal: Frontiers in psychiatry

Published: November 03, 2025

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

Journal: Pediatric research

Published: November 01, 2025

Outcomes of the national premarital genetic screening program for cystic fibrosis, homocystinuria, and spinal muscular atrophy in Qatar.

Journal: Human genomics

Published: October 28, 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

Homocystinuria Latest Advances

Find the Latest Research About Homocystinuria

Urgent need for new-born screening and clinical awareness of homocystinuria in Pakistan.

Urgent need for new-born screening and clinical awareness of homocystinuria in Pakistan.

Liver-Targeted AAV-DJ-hCBS Therapy Achieves Long-Term Correction of Metabolic Imbalance in CBS-Deficient Mice.

Liver-Targeted AAV-DJ-hCBS Therapy Achieves Long-Term Correction of Metabolic Imbalance in CBS-Deficient Mice.

Corrigendum to "Givinostat rescues folding of cystathionine beta-synthase and ameliorates murine homocystinuria" [Biochem. Pharmacol. 239 (2025) 117079].

Corrigendum to "Givinostat rescues folding of cystathionine beta-synthase and ameliorates murine homocystinuria" [Biochem. Pharmacol. 239 (2025) 117079].

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.

The first report of primary hypotonia with abnormal electromyogram and CBS mutation in a Chinese child.

The first report of primary hypotonia with abnormal electromyogram and CBS mutation in a Chinese child.

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.

Encephalitis-like presentation of methylmalonic acidemia with homocystinuria in a postpartum woman: a case report.

Encephalitis-like presentation of methylmalonic acidemia with homocystinuria in a postpartum woman: a case report.

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

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

Outcomes of the national premarital genetic screening program for cystic fibrosis, homocystinuria, and spinal muscular atrophy in Qatar.

Outcomes of the national premarital genetic screening program for cystic fibrosis, homocystinuria, and spinal muscular atrophy in Qatar.

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