Homocystinuria Latest Advances

Infantile Homocystinuric Urolithiasis With Staghorn Calculus: A Case Report of Nephron-Sparing Surgical Salvage in an Intraparenchymal Renal Pelvis.

Journal: Cureus

Published: June 29, 2026

Misfolding of cystathionine beta-synthase impairs mitochondrial homeostasis and cellular bioenergetics.

Journal: Free radical biology & medicine

Published: June 19, 2026

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

Phenotype variability in six new patients with beta-mannosidosis.

Journal: Molecular genetics and metabolism

Published: May 11, 2026

Vaccine antibody responses in children with inborn errors of metabolism on protein-restricted diets: an overlooked silent risk?

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: April 03, 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

Homocystinuria presenting with cerebral venous thrombosis: a case report highlighting progressive thrombosis.

Journal: Frontiers in cardiovascular medicine

Published: March 08, 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

Whole exome sequencing and genotype-phenotype correlation in homocystinuria in an Iranian population: a multicenter study.

Journal: Scientific reports

Published: January 29, 2026

Homocystinuria Latest Advances

Find the Latest Research About Homocystinuria

Infantile Homocystinuric Urolithiasis With Staghorn Calculus: A Case Report of Nephron-Sparing Surgical Salvage in an Intraparenchymal Renal Pelvis.

Infantile Homocystinuric Urolithiasis With Staghorn Calculus: A Case Report of Nephron-Sparing Surgical Salvage in an Intraparenchymal Renal Pelvis.

Misfolding of cystathionine beta-synthase impairs mitochondrial homeostasis and cellular bioenergetics.

Misfolding of cystathionine beta-synthase impairs mitochondrial homeostasis and cellular bioenergetics.

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.

Phenotype variability in six new patients with beta-mannosidosis.

Phenotype variability in six new patients with beta-mannosidosis.

Vaccine antibody responses in children with inborn errors of metabolism on protein-restricted diets: an overlooked silent risk?

Vaccine antibody responses in children with inborn errors of metabolism on protein-restricted diets: an overlooked silent risk?

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.

Homocystinuria presenting with cerebral venous thrombosis: a case report highlighting progressive thrombosis.

Homocystinuria presenting with cerebral venous thrombosis: a case report highlighting progressive thrombosis.

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.

Whole exome sequencing and genotype-phenotype correlation in homocystinuria in an Iranian population: a multicenter study.

Whole exome sequencing and genotype-phenotype correlation in homocystinuria in an Iranian population: a multicenter study.