Methylmalonic Acidemia Latest Advances

Generalized Dystonia and Defects in Dopaminergic System With Methylmalonic Acidemia.

Journal: JAMA neurology

Published: January 06, 2026

Anesthetic Considerations in a Parturient With Methylmalonic Acidemia: A Case Report.

Journal: A&A practice

Published: November 17, 2025

Expanded Newborn Screening for Inborn Errors of Metabolism at a Single Center in Louisiana (2005-2024): Outcomes.

Journal: International journal of neonatal screening

Published: October 27, 2025

Methylmalonic Acidemia: A Review of Cases in Jordan.

Journal: Cureus

Published: October 17, 2025

A case of cblF type methylmalonic aciduria and homocystinuria

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

Published: October 14, 2025

Evaluation of scientific validity and appropriateness of artificial intelligence-assisted ChatGPT advices in dietary treatment of methylmalonic acidemia.

Journal: Nutricion hospitalaria

Published: September 29, 2025

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

Incidence of Organic Acid Disorders in 13 Million Chinese Newborns: A Systematic Review and Meta-Analysis.

Journal: International journal of neonatal screening

Published: September 16, 2025

Experimental insights into MMACHC variants using a novel minigene system.

Journal: Molecular genetics and metabolism

Published: September 12, 2025

Full recovery of vision following early and intensive hemodialysis in an 18-year-old woman with methylmalonic acidemia-related optic neuropathy.

Journal: Molecular genetics and metabolism reports

Published: August 22, 2025

Clinical features and treatment of methylmalonic acidemia complicated with Dandy-Walker syndrome: a report of four cases and review of literature.

Journal: Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery

Published: August 13, 2025

Transforming Growth Factor-β-Mediated Fibrotic Remodeling Drives Chronic Kidney Disease in Methylmalonic Aciduria and Propionic Aciduria-Identification of a New Therapeutic Target.

Journal: Journal of inherited metabolic disease

Published: August 06, 2025