Understanding human glycosylation disorders: biochemistry leads the charge

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ID: 272770
2013
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Abstract
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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hh2013theunderstanding Use this key to autocite in the manuscript while using SciMatic Manuscript Manager or Thesis Manager
Authors Freeze HH;;
Journal The Journal of biological chemistry
Year 2013
DOI
DOI not found
URL
http://www.ncbi.nlm.nih.gov/pubmed/23329837
Keywords
National Center for Biotechnology Information NCBI NLM MEDLINE review humans pubmed abstract nih national institutes of health national library of medicine research support non-u.s. gov't N.I.H. Extramural Sequence Analysis liver / metabolism mutation* dna / methods genetic predisposition to disease / genetics* liver / abnormalities pmid:23329837 pmc3591604 doi:10.1074/jbc.r112.429274 hudson h freeze congenital disorders of glycosylation / diagnosis congenital disorders of glycosylation / genetics* congenital disorders of glycosylation / metabolism exome / genetics* glycosylphosphatidylinositols / metabolism hypoglycemia / genetics mannosyltransferases / genetics

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