000 01080 a2200301 4500
005 20250516044758.0
264 0 _c20111202
008 201112s 0 0 eng d
022 _a1573-2665
024 7 _a10.1007/s10545-011-9370-0
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aLefeber, Dirk J
245 0 0 _aHow to find and diagnose a CDG due to defective N-glycosylation.
_h[electronic resource]
260 _bJournal of inherited metabolic disease
_cAug 2011
300 _a849-52 p.
_bdigital
500 _aPublication Type: Editorial
650 0 4 _aCarbohydrate Sequence
650 0 4 _aCongenital Disorders of Glycosylation
_xdiagnosis
650 0 4 _aGlycosylation
650 0 4 _aHumans
650 0 4 _aMass Screening
_xmethods
650 0 4 _aModels, Biological
650 0 4 _aProtein Processing, Post-Translational
_xgenetics
700 1 _aMorava, Eva
700 1 _aJaeken, Jaak
773 0 _tJournal of inherited metabolic disease
_gvol. 34
_gno. 4
_gp. 849-52
856 4 0 _uhttps://doi.org/10.1007/s10545-011-9370-0
_zAvailable from publisher's website
999 _c20991340
_d20991340