Metabolic manipulation of glycosylation disorders in humans and animal models.


In the last decade, over 40 inherited human glycosylation disorders were identified. Most patients have hypomorphic, rather than null alleles. The phenotypic spectrum is broad and most of the disorders affect embryonic and early post-natal development; a few appear in adult life. Some deficiencies can be treated with simple dietary sugar (monosaccharide… (More)
DOI: 10.1016/j.semcdb.2010.03.011


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