Methylmalonic Acidemia Latest Advances

Correction of a recurrent pathogenic variant in methylmalonic acidemia using adenine base editing.

Journal: bioRxiv : the preprint server for biology

Published: April 10, 2026

Application of percutaneous endoscopic gastrostomy in children with methylmalonic acidemia or propionic acidemia complicated by feeding difficulties: a case series of 7 patients

Journal: Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics

Published: March 31, 2026

Recent research advances in the biological function and molecular mechanism of methylmalonic acid.

Journal: Journal of Zhejiang University. Science. B

Published: March 18, 2026

J-Editing Proton MR Spectroscopy for Brain Signal Separation in Methylmalonic Acidemia: A Pediatric Case-Control Study.

Journal: Radiology

Published: March 03, 2026

Acute heart failure in an infant with methylmalonic acidemia: a diagnostic and therapeutic challenge.

Journal: Archivos argentinos de pediatria

Published: February 13, 2026

Fibroblast growth factor 21 and growth differentiation factor 15 as biomarkers for oxidative stress in children with methylmalonic acidemia.

Journal: BMC pediatrics

Published: January 19, 2026

Incorporating Next-Generation Sequencing in Newborn Screening for Organic Acidemias.

Journal: International journal of neonatal screening

Published: January 07, 2026

Generalized Dystonia and Defects in Dopaminergic System With Methylmalonic Acidemia.

Journal: JAMA neurology

Published: January 06, 2026

Dietary Protein Modulation, Gut Microbiota, and Metabolic Control in Methylmalonic Acidemia: A Prospective Longitudinal Study.

Journal: Journal of inherited metabolic disease

Published: January 06, 2026

Global Longitudinal Strain Alteration of the Left Ventricle in Children with Organic Aciduria: Cardiac Disease in Organic Aciduria.

Journal: Journal of clinical medicine

Published: December 22, 2025

Cross-species transcriptomic analysis reveals a conserved miRNA signature targeting MMUT in methylmalonic acidemia: implications for diagnosis and therapy.

Journal: In silico pharmacology

Published: December 07, 2025

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

Journal: A&A practice

Published: November 17, 2025

Methylmalonic Acidemia Latest Advances

Find the Latest Research About Methylmalonic Acidemia

Correction of a recurrent pathogenic variant in methylmalonic acidemia using adenine base editing.

Correction of a recurrent pathogenic variant in methylmalonic acidemia using adenine base editing.

Application of percutaneous endoscopic gastrostomy in children with methylmalonic acidemia or propionic acidemia complicated by feeding difficulties: a case series of 7 patients

Application of percutaneous endoscopic gastrostomy in children with methylmalonic acidemia or propionic acidemia complicated by feeding difficulties: a case series of 7 patients

Recent research advances in the biological function and molecular mechanism of methylmalonic acid.

Recent research advances in the biological function and molecular mechanism of methylmalonic acid.

J-Editing Proton MR Spectroscopy for Brain Signal Separation in Methylmalonic Acidemia: A Pediatric Case-Control Study.

J-Editing Proton MR Spectroscopy for Brain Signal Separation in Methylmalonic Acidemia: A Pediatric Case-Control Study.

Acute heart failure in an infant with methylmalonic acidemia: a diagnostic and therapeutic challenge.

Acute heart failure in an infant with methylmalonic acidemia: a diagnostic and therapeutic challenge.

Fibroblast growth factor 21 and growth differentiation factor 15 as biomarkers for oxidative stress in children with methylmalonic acidemia.

Fibroblast growth factor 21 and growth differentiation factor 15 as biomarkers for oxidative stress in children with methylmalonic acidemia.

Incorporating Next-Generation Sequencing in Newborn Screening for Organic Acidemias.

Incorporating Next-Generation Sequencing in Newborn Screening for Organic Acidemias.

Generalized Dystonia and Defects in Dopaminergic System With Methylmalonic Acidemia.

Generalized Dystonia and Defects in Dopaminergic System With Methylmalonic Acidemia.

Dietary Protein Modulation, Gut Microbiota, and Metabolic Control in Methylmalonic Acidemia: A Prospective Longitudinal Study.

Dietary Protein Modulation, Gut Microbiota, and Metabolic Control in Methylmalonic Acidemia: A Prospective Longitudinal Study.

Global Longitudinal Strain Alteration of the Left Ventricle in Children with Organic Aciduria: Cardiac Disease in Organic Aciduria.

Global Longitudinal Strain Alteration of the Left Ventricle in Children with Organic Aciduria: Cardiac Disease in Organic Aciduria.

Cross-species transcriptomic analysis reveals a conserved miRNA signature targeting MMUT in methylmalonic acidemia: implications for diagnosis and therapy.

Cross-species transcriptomic analysis reveals a conserved miRNA signature targeting MMUT in methylmalonic acidemia: implications for diagnosis and therapy.

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

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