Methylmalonic Acidemia with Homocystinuria Latest Advances

Find the Latest Research About Methylmalonic Acidemia with Homocystinuria

Last Updated: 09/26/2026

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Found 74 publications

Cobalamin-Related Remethylation Disorders: Pregnancy Outcomes and Prenatal Treatment-New Cases and a Literature Study.

Cobalamin-Related Remethylation Disorders: Pregnancy Outcomes and Prenatal Treatment-New Cases and a Literature Study.

Journal: Journal of inherited metabolic disease

Published: January 16, 2026

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.

Journal: Frontiers in psychiatry

Published: November 03, 2025

Late-onset epi-cblC methylmalonic aciduria with tissue-variable MMACHC promoter methylation due to a stop retained PRDX1 variant.

Late-onset epi-cblC methylmalonic aciduria with tissue-variable MMACHC promoter methylation due to a stop retained PRDX1 variant.

Journal: Clinical epigenetics

Published: August 15, 2025

A child with cobalamin C deficiency caused by complex heterozygous variation of c.567dupT and c.80A > G complicated with pulmonary arterial hypertension and hydrocephalus: A case report and literature review.

A child with cobalamin C deficiency caused by complex heterozygous variation of c.567dupT and c.80A > G complicated with pulmonary arterial hypertension and hydrocephalus: A case report and literature review.

Journal: Medicine

Published: July 30, 2025

Case Report: Cerebellar microhemorrhages: an underrecognized feature of MMA-HC revealed by high-field 7.0 T MRI.

Case Report: Cerebellar microhemorrhages: an underrecognized feature of MMA-HC revealed by high-field 7.0 T MRI.

Journal: Frontiers in radiology

Published: June 26, 2025

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.

Journal: Genes

Published: April 19, 2025

Unveiling clinical and genetic landscapes of MMA and CBS: insights from whole exome sequencing in a tertiary care setting.

Unveiling clinical and genetic landscapes of MMA and CBS: insights from whole exome sequencing in a tertiary care setting.

Journal: Pediatric research

Published: April 17, 2025

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.

Journal: Molecular genetics and metabolism

Published: April 15, 2025

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.

Journal: Metabolites

Published: April 03, 2025

Variable phenotypes and outcomes associated with the MMACHC c.1A>G variant in Chinese patients with combined methylmalonic acidemia and homocystinuria cblC type.

Variable phenotypes and outcomes associated with the MMACHC c.1A>G variant in Chinese patients with combined methylmalonic acidemia and homocystinuria cblC type.

Journal: Molecular genetics and metabolism

Published: March 25, 2025

New genetic tools to define the pathophysiology of inborn errors of cobalamin metabolism impacting mammalian development.

New genetic tools to define the pathophysiology of inborn errors of cobalamin metabolism impacting mammalian development.

Journal: Differentiation; research in biological diversity

Published: December 03, 2024

Retinal dimples in a case of adult-onset methylmalonic acidemia with homocystinuria: A new finding.

Retinal dimples in a case of adult-onset methylmalonic acidemia with homocystinuria: A new finding.

Journal: Journal francais d'ophtalmologie

Published: June 14, 2024

Showing 1-12 of 74

Last Updated: 09/26/2026