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Intracellular Cobalamin sentence examples within intracellular cobalamin metabolism



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


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10.1016/j.biochi.2021.09.006

Decreased cortical Nrf2 gene expression in autism and its relationship to thiol and cobalamin status.



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



Late-onset methylmalonic acidemia and homocysteinemia: a case report.



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



Subclinical maculopathy and retinopathy in transcobalamin deficiency: a 10-year follow-up



Prenatal diagnosis of combined methylmalonic acidemia and homocystinuria cobalamin C type using clinical exome sequencing and targeted gene analysis.



Epimutation of MMACHC compound to a genetic mutation in cblC cases



Report of rapid diagnosis and precise management of MMADHC-related intracellular cobalamin defect



Reversible Basal Ganglia Changes and Metabolic Crisis in Infantile Tremor Syndrome



Parenteral hydroxocobalamin dose intensification in five patients with different types of early onset intracellular cobalamin defects: Clinical and biochemical responses



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


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10.1097/MPH.0000000000001120

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



In dogs with chronic enteropathy that have hypocobalaminaemia, can oral tablets be used instead of injectable protocols?



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


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