Homocystinuria Latest Advances

Homocystinuria in a consanguineous indigenous family from rural Honduras: a ten-year follow up and literature review of familial cases.

Journal: Archive of clinical cases

Published: May 11, 2026

Bilateral lens subluxation in a patient with homocystinuria: a case report.

Journal: American journal of ophthalmology case reports

Published: March 21, 2026

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

Inherited disorders of cobalamin metabolism in childhood: biochemical and clinical perspectives.

Journal: Frontiers in nutrition

Published: February 11, 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

Structural insights into cobalamin loading and reactivation of human methionine synthase.

Journal: Nature communications

Published: November 28, 2025

Delay in Diagnosis of Classical Homocystinuria.

Journal: JIMD reports

Published: November 14, 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

Homocystinuria Latest Advances

Find the Latest Research About Homocystinuria

Homocystinuria in a consanguineous indigenous family from rural Honduras: a ten-year follow up and literature review of familial cases.

Homocystinuria in a consanguineous indigenous family from rural Honduras: a ten-year follow up and literature review of familial cases.

Bilateral lens subluxation in a patient with homocystinuria: a case report.

Bilateral lens subluxation in a patient with homocystinuria: a case report.

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].

Inherited disorders of cobalamin metabolism in childhood: biochemical and clinical perspectives.

Inherited disorders of cobalamin metabolism in childhood: biochemical and clinical perspectives.

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.

Structural insights into cobalamin loading and reactivation of human methionine synthase.

Structural insights into cobalamin loading and reactivation of human methionine synthase.

Delay in Diagnosis of Classical Homocystinuria.

Delay in Diagnosis of Classical 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.

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.