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Cobalamin J disease detected on newborn screening: Novel variant and normal neurodevelopmental course


Hemolytic Uremic Syndrome Due to Methylmalonic Acidemia and Homocystinuria in an Infant: A Case Report and Literature Review

Intracellular Cobalamin sentence examples within intracellular cobalamin pathway



Reversible Basal Ganglia Changes and Metabolic Crisis in Infantile Tremor Syndrome


MCEE Mutations in an Adult Patient with Parkinson’s Disease, Dementia, Stroke and Elevated Levels of Methylmalonic Acid


MMADHC premature termination codons in the pathogenesis of cobalamin D disorder: Potential of translational readthrough reconstitution



Treatable cause of hereditary spastic paraplegia: eight cases of combined homocysteinaemia with methylmalonic aciduria



Neutropenia and Increased Mean Corpuscular Volume (MCV) With Abnormal Neurologic Findings: A Case of Cobalamin D Deficiency


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Intracellular Cobalamin 細胞内コバラミン
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