Results 141 to 150 of about 80,661 (193)

Diagnostic challenge of high vitamin B12 levels: a case report and review of the literature. [PDF]

open access: yesJ Med Case Rep
Stella M   +7 more
europepmc   +1 more source

Insights into Neutrophil Dysfunction in Inherited Metabolic Disorders. [PDF]

open access: yesJ Innate Immun
Wolf A   +8 more
europepmc   +1 more source

A carbon trail to follow: unveiling itaconate's metabolism in vivo. [PDF]

open access: yesImmunometabolism (Cobham)
Anisov DE, Clayton SA, Nosenko MA.
europepmc   +1 more source

Advanced Ophthalmic Drug Delivery in Homocystinuria Type CblC: A Translational Review of Ophthalmic Pathologies and Therapeutic Opportunities. [PDF]

open access: yesPharmaceutics
Cuello-Rodríguez S   +5 more
europepmc   +1 more source

Treatment of a Methylmalonyl-CoA Mutase Stopcodon Mutation

Biochemical and Biophysical Research Communications, 2012
There are limited treatment options for the metabolic disorder methylmalonic aciduria. The disorder can be caused by nonsense mutations within the methylmalonyl-CoA mutase gene, resulting in the production of a truncated protein with little or no catalytic activity.
Leonie R Wood, Michael J Bennett
exaly   +3 more sources

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