000			02186 a2200649 4500
005			20250518040122.0
264		0	_c20200317
008			202003s 0 0 eng d
022			_a1098-1004
024	7		_a10.1002/humu.23764 _2doi
040			_aNLM _beng _cNLM
100	1		_aHimmelreich, Nastassja
245	0	0	_aNovel variants and clinical symptoms in four new ALG3-CDG patients, review of the literature, and identification of AAGRP-ALG3 as a novel ALG3 variant with alanine and glycine-rich N-terminus. _h[electronic resource]
260			_bHuman mutation _c07 2019
300			_a938-951 p. _bdigital
500			_aPublication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Review
650	0	4	_aAnimals
650	0	4	_aCOS Cells
650	0	4	_aCells, Cultured
650	0	4	_aChild, Preschool
650	0	4	_aChlorocebus aethiops
650	0	4	_aCongenital Disorders of Glycosylation _xgenetics
650	0	4	_aFemale
650	0	4	_aHumans
650	0	4	_aInfant
650	0	4	_aMale
650	0	4	_aMannosyltransferases _xgenetics
650	0	4	_aMutation
650	0	4	_aOpen Reading Frames
650	0	4	_aPeptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase _xdeficiency
650	0	4	_aPolymorphism, Single Nucleotide
700	1		_aDimitrov, Bianca
700	1		_aGeiger, Virginia
700	1		_aZielonka, Matthias
700	1		_aHutter, Anna-Marlen
700	1		_aBeedgen, Lars
700	1		_aHüllen, Andreas
700	1		_aBreuer, Maximilian
700	1		_aPeters, Verena
700	1		_aThiemann, Kai-Christian
700	1		_aHoffmann, Georg F
700	1		_aSinning, Irmgard
700	1		_aDupré, Thierry
700	1		_aVuillaumier-Barrot, Sandrine
700	1		_aBarrey, Catherine
700	1		_aDenecke, Jonas
700	1		_aKölfen, Wolfgang
700	1		_aDüker, Gesche
700	1		_aGanschow, Rainer
700	1		_aLentze, Michael J
700	1		_aMoore, Stuart
700	1		_aSeta, Nathalie
700	1		_aZiegler, Andreas
700	1		_aThiel, Christian
773	0		_tHuman mutation _gvol. 40 _gno. 7 _gp. 938-951
856	4	0	_uhttps://doi.org/10.1002/humu.23764 _zAvailable from publisher's website
999			_c29669069 _d29669069