Homocystinuria Latest Advances

A case of cblF type methylmalonic aciduria and homocystinuria

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

Published: October 14, 2025

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.

Journal: Molecular and cellular biology

Published: June 11, 2025

Dietary Shift Leads to Venous Thrombosis-Induced Congestive Liver Failure in CBS-Deficient Mice.

Journal: Journal of inherited metabolic disease

Published: June 04, 2025

The common homocystinuria-associated P1173L variant of human methionine synthase impairs reductive methylation.

Journal: The Journal of biological chemistry

Published: May 09, 2025

Pancreatitis Is an Emerging Rare Complication of Classic Homocystinuria: A Case Series and Literature Review.

Journal: American journal of medical genetics. Part A

Published: May 02, 2025

Analysis of hydroxocobalamin dosage in patients with CblC deficiency.

Journal: Orphanet journal of rare diseases

Published: April 22, 2025

Qatar's National Expanded Metabolic Newborn Screening Program: Incidence and Outcomes.

Journal: International journal of neonatal screening

Published: April 20, 2025

Retinal Changes in Early-Onset cblC Methylmalonic Acidemia Identified Through Expanded Newborn Screening: Highlights from a Case Study and Literature Review.

Journal: Genes

Published: April 19, 2025

Missense mutations in MMACHC protein from cblC disease affect its conformational stability and vitamin B12-binding activity: The example of R161Q mutation.

Journal: Molecular genetics and metabolism

Published: April 15, 2025

Unraveling CBS Mutations and Their Clinical Impact in a Chinese Family With Classical Homocystinuria.

Journal: Molecular genetics & genomic medicine

Published: April 08, 2025

Propionyl Carnitine Metabolic Profile: Optimizing the Newborn Screening Strategy Through Customized Cut-Offs.

Journal: Metabolites

Published: April 03, 2025

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A case of cblF type methylmalonic aciduria and homocystinuria

A case of cblF type methylmalonic aciduria and homocystinuria

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.

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.

Dietary Shift Leads to Venous Thrombosis-Induced Congestive Liver Failure in CBS-Deficient Mice.

Dietary Shift Leads to Venous Thrombosis-Induced Congestive Liver Failure in CBS-Deficient Mice.

The common homocystinuria-associated P1173L variant of human methionine synthase impairs reductive methylation.

The common homocystinuria-associated P1173L variant of human methionine synthase impairs reductive methylation.

Pancreatitis Is an Emerging Rare Complication of Classic Homocystinuria: A Case Series and Literature Review.

Pancreatitis Is an Emerging Rare Complication of Classic Homocystinuria: A Case Series and Literature Review.

Analysis of hydroxocobalamin dosage in patients with CblC deficiency.

Analysis of hydroxocobalamin dosage in patients with CblC deficiency.

Qatar's National Expanded Metabolic Newborn Screening Program: Incidence and Outcomes.

Qatar's National Expanded Metabolic Newborn Screening Program: Incidence and Outcomes.

Retinal Changes in Early-Onset cblC Methylmalonic Acidemia Identified Through Expanded Newborn Screening: Highlights from a Case Study and Literature Review.

Retinal Changes in Early-Onset cblC Methylmalonic Acidemia Identified Through Expanded Newborn Screening: Highlights from a Case Study and Literature Review.

Missense mutations in MMACHC protein from cblC disease affect its conformational stability and vitamin B12-binding activity: The example of R161Q mutation.

Missense mutations in MMACHC protein from cblC disease affect its conformational stability and vitamin B12-binding activity: The example of R161Q mutation.

Unraveling CBS Mutations and Their Clinical Impact in a Chinese Family With Classical Homocystinuria.

Unraveling CBS Mutations and Their Clinical Impact in a Chinese Family With Classical Homocystinuria.

Propionyl Carnitine Metabolic Profile: Optimizing the Newborn Screening Strategy Through Customized Cut-Offs.

Propionyl Carnitine Metabolic Profile: Optimizing the Newborn Screening Strategy Through Customized Cut-Offs.