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This review discusses a selection of congenital disorders of glycosylation that show peculiar features, such as an unusual presentation, different phenotypes, a novel biochemical/genetic mechanism, a relatively high frequency or a relatively efficient treatment.Isolated methylmalonic acidurias represent a heterogeneous genetic group of inborn errors of propionate metabolism with the common biochemical hallmark of elevated methylmalonic acid present in tissues and body fluids. It was first described in the 1960s and over the years bette
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