Understanding human glycosylation disorders: biochemistry leads the charge
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 …
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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272770
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