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Clinical presenting features of the condition include those relating to anaemia (e.g., pallor, weakness, and fatigue), gastro-intestinal symptoms (e.g., epigastric pain and glossitis), neurological symptoms (e.g., from numbness of extremities and impaired proprioception in subacute combined degeneration of the spinal cord to severe developmental delay, epilepsy, and coma in inherited intracellular cobalamin defects), psychiatric disturbances and neural tube defects in the newborn of a deficient mother ( In cases which arouse clinical suspicion, there is no gold standard single test for the diagnosis of this condition ( p mol/L cut-off in the UK ( Current guidelines for B12 replacement Vitamin B12 is available in four different formulations—cyanocobalamin (CN-Cbl), hydroxocobalamin (OH-Cbl), methylcobalamin (methyl-Cbl), and adenosylcobalamin (adenosyl-Cbl)—depending on the R residual group attached to the core cobalamin molecule
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The nuclear localization of HSL occurs through its interaction with the TGF-β signal transduction protein, SMAD3
