Associated Papers
Would, early, versus late hydroxocobalamin dose intensification treatment, prevent cognitive decline, macular degeneration and ocular disease, in 5 patients with early-onset cblC deficiency?
Scalais E et al.
Molecular Genetics and Metabolism, 2023
Proteomics of vitamin B12 processing.
Hannibal L et al.
Clinical Chemistry and Laboratory Medicine, 2013
Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations.
Lerner-Ellis JP et al.
Human Mutation, 2009
Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type.
Lerner-Ellis JP et al.
Nature Genetics, 2006
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