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Last Updated: 10/31/2025
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Found 66 publications
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
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.
Journal: Journal francais d'ophtalmologie
Published: June 14, 2024
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.
Journal: Journal of inherited metabolic disease
Published: October 16, 2023
A regionally adapted HRM-based technique to screen MMACHC carriers for methylmalonic acidemia with homocystinuria in Shandong Province, China.
Journal: Intractable & rare diseases research
Published: February 10, 2023
Variable phenotypes and outcomes associated with the MMACHC c.482G > A mutation: follow-up in a large CblC disease cohort.
Journal: World journal of pediatrics : WJP
Published: November 25, 2022
Neurodevelopmental and neuropsychiatric disorders in cobalamin C disease: a case report and review of the literature.
Journal: Cold Spring Harbor molecular case studies
Published: December 17, 2021
Inherited metabolic diseases mimicking hereditary spastic paraplegia (HSP): a chance for treatment.
Journal: Neurogenetics
Published: October 18, 2021
Last Updated: 10/31/2025