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Understanding Human Glycosylation Disorders: Biochemistry Leads the Charge
Nearly 70 inherited human glycosylation disorders span a breathtaking clinical spectrum, impacting nearly every organ system and launching a family-driven diagnostic odyssey. Advances in genetics, especially next generation sequencing, propelled discovery of many glycosylation disorders in single an...
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| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
American Society for Biochemistry and Molecular Biology
2013
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| Hasła przedmiotowe: | |
| Dostęp online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3591604/ https://ncbi.nlm.nih.gov/pubmed/23329837 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.R112.429274 |
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