Methylmalonic Acidemia with Homocystinuria Latest Advances

Find the Latest Research About Methylmalonic Acidemia with Homocystinuria

Last Updated: 06/30/2026

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Found 71 publications

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

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

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

Methylmalonic acidemia with homocystinuria in acute myeloid leukemia: a case report.

Methylmalonic acidemia with homocystinuria in acute myeloid leukemia: a case report.

Journal: BMC pediatrics
Published: March 26, 2024

Improved biochemical and neurodevelopmental profiles with high-dose hydroxocobalamin therapy in cobalamin C defect.

Improved biochemical and neurodevelopmental profiles with high-dose hydroxocobalamin therapy in cobalamin C defect.

Journal: Journal of inherited metabolic disease
Published: October 16, 2023

Late-onset renal TMA and tubular injury in cobalamin C disease: a report of three cases and literature review.

Late-onset renal TMA and tubular injury in cobalamin C disease: a report of three cases and literature review.

Journal: BMC nephrology
Published: September 28, 2023
Showing 1-12 of 71

Last Updated: 06/30/2026