423 related articles for article (PubMed ID: 28444691)
1. MALDI-MS profiling of serum O-glycosylation and N-glycosylation in COG5-CDG.
Palmigiano A; Bua RO; Barone R; Rymen D; Régal L; Deconinck N; Dionisi-Vici C; Fung CW; Garozzo D; Jaeken J; Sturiale L
J Mass Spectrom; 2017 Jun; 52(6):372-377. PubMed ID: 28444691
[TBL] [Abstract][Full Text] [Related]
2. MALDI-TOF MS applied to apoC-III glycoforms of patients with congenital disorders affecting O-glycosylation. Comparison with two-dimensional electrophoresis.
Yen-Nicolaÿ S; Boursier C; Rio M; Lefeber DJ; Pilon A; Seta N; Bruneel A
Proteomics Clin Appl; 2015 Aug; 9(7-8):787-93. PubMed ID: 25641685
[TBL] [Abstract][Full Text] [Related]
3. Apolipoprotein C-III O-glycoform profiling of 500 serum samples by matrix-assisted laser desorption/ionization mass spectrometry for diagnosis of congenital disorders of glycosylation.
Wada Y; Okamoto N
J Mass Spectrom; 2021 Apr; 56(4):e4597. PubMed ID: 32677746
[TBL] [Abstract][Full Text] [Related]
4. Plasma N-glycan profiling by mass spectrometry for congenital disorders of glycosylation type II.
Guillard M; Morava E; van Delft FL; Hague R; Körner C; Adamowicz M; Wevers RA; Lefeber DJ
Clin Chem; 2011 Apr; 57(4):593-602. PubMed ID: 21273509
[TBL] [Abstract][Full Text] [Related]
5. Serum N-glycan and O-glycan analysis by mass spectrometry for diagnosis of congenital disorders of glycosylation.
Xia B; Zhang W; Li X; Jiang R; Harper T; Liu R; Cummings RD; He M
Anal Biochem; 2013 Nov; 442(2):178-85. PubMed ID: 23928051
[TBL] [Abstract][Full Text] [Related]
6. Mass spectrometry glycophenotype characterization of ALG2-CDG in Argentinean patients with a new genetic variant in homozygosis.
Papazoglu GM; Cubilla M; Pereyra M; de Kremer RD; Pérez B; Sturiale L; Asteggiano CG
Glycoconj J; 2021 Apr; 38(2):191-200. PubMed ID: 33644825
[TBL] [Abstract][Full Text] [Related]
7. Relative quantification of plasma N-glycans in type II congenital disorder of glycosylation patients by mass spectrometry.
Barbosa EA; Fontes NDC; Santos SCL; Lefeber DJ; Bloch C; Brum JM; Brand GD
Clin Chim Acta; 2019 May; 492():102-113. PubMed ID: 30776362
[TBL] [Abstract][Full Text] [Related]
8. ALG12-CDG: novel glycophenotype insights endorse the molecular defect.
Sturiale L; Bianca S; Garozzo D; Terracciano A; Agolini E; Messina A; Palmigiano A; Esposito F; Barone C; Novelli A; Fiumara A; Jaeken J; Barone R
Glycoconj J; 2019 Dec; 36(6):461-472. PubMed ID: 31529350
[TBL] [Abstract][Full Text] [Related]
9. Glycosylation Analysis for Congenital Disorders of Glycosylation.
Li X; Raihan MA; Reynoso FJ; He M
Curr Protoc Hum Genet; 2015 Jul; 86():17.18.1-17.18.22. PubMed ID: 26132001
[TBL] [Abstract][Full Text] [Related]
10. Deficiency in COG5 causes a moderate form of congenital disorders of glycosylation.
Paesold-Burda P; Maag C; Troxler H; Foulquier F; Kleinert P; Schnabel S; Baumgartner M; Hennet T
Hum Mol Genet; 2009 Nov; 18(22):4350-6. PubMed ID: 19690088
[TBL] [Abstract][Full Text] [Related]
11. COG5-CDG: expanding the clinical spectrum.
Rymen D; Keldermans L; Race V; Régal L; Deconinck N; Dionisi-Vici C; Fung CW; Sturiale L; Rosnoblet C; Foulquier F; Matthijs G; Jaeken J
Orphanet J Rare Dis; 2012 Dec; 7():94. PubMed ID: 23228021
[TBL] [Abstract][Full Text] [Related]
12. Clinical, molecular and glycophenotype insights in SLC39A8-CDG.
Bonaventura E; Barone R; Sturiale L; Pasquariello R; Alessandrì MG; Pinto AM; Renieri A; Panteghini C; Garavaglia B; Cioni G; Battini R
Orphanet J Rare Dis; 2021 Jul; 16(1):307. PubMed ID: 34246313
[TBL] [Abstract][Full Text] [Related]
13. Mass spectrometry of transferrin glycoforms to detect congenital disorders of glycosylation: Site-specific profiles and pitfalls.
Wada Y
Proteomics; 2016 Dec; 16(24):3105-3110. PubMed ID: 27095603
[TBL] [Abstract][Full Text] [Related]
14. Patients with unsolved congenital disorders of glycosylation type II can be subdivided in six distinct biochemical groups.
Wopereis S; Morava E; Grünewald S; Adamowicz M; Huijben KM; Lefeber DJ; Wevers RA
Glycobiology; 2005 Dec; 15(12):1312-9. PubMed ID: 16037491
[TBL] [Abstract][Full Text] [Related]
15. HILIC-UPLC-MS for high throughput and isomeric N-glycan separation and characterization in Congenital Disorders Glycosylation and human diseases.
Messina A; Palmigiano A; Esposito F; Fiumara A; Bordugo A; Barone R; Sturiale L; Jaeken J; Garozzo D
Glycoconj J; 2021 Apr; 38(2):201-211. PubMed ID: 32915358
[TBL] [Abstract][Full Text] [Related]
16. Mass spectrometry of transferrin and apolipoprotein C-III for diagnosis and screening of congenital disorder of glycosylation.
Wada Y
Glycoconj J; 2016 Jun; 33(3):297-307. PubMed ID: 26873821
[TBL] [Abstract][Full Text] [Related]
17. Clinical and biochemical presentation of siblings with COG-7 deficiency, a lethal multiple O- and N-glycosylation disorder.
Spaapen LJ; Bakker JA; van der Meer SB; Sijstermans HJ; Steet RA; Wevers RA; Jaeken J
J Inherit Metab Dis; 2005; 28(5):707-14. PubMed ID: 16151902
[TBL] [Abstract][Full Text] [Related]
18. Fetal glycosylation defect due to ALG3 and COG5 variants detected via amniocentesis: Complex glycosylation defect with embryonic lethal phenotype.
Ferrer A; Starosta RT; Ranatunga W; Ungar D; Kozicz T; Klee E; Rust LM; Wick M; Morava E
Mol Genet Metab; 2020 Dec; 131(4):424-429. PubMed ID: 33187827
[TBL] [Abstract][Full Text] [Related]
19. Global serum glycoform profiling for the investigation of dystroglycanopathies & Congenital Disorders of Glycosylation.
Heywood WE; Bliss E; Mills P; Yuzugulen J; Carreno G; Clayton PT; Muntoni F; Worthington VC; Torelli S; Sebire NJ; Mills K; Grunewald S
Mol Genet Metab Rep; 2016 Jun; 7():55-62. PubMed ID: 27134828
[TBL] [Abstract][Full Text] [Related]
20. The impact of mass spectrometry in the diagnosis of congenital disorders of glycosylation.
Sturiale L; Barone R; Garozzo D
J Inherit Metab Dis; 2011 Aug; 34(4):891-9. PubMed ID: 21384227
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
