205 related articles for article (PubMed ID: 30776362)
1. 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]
2. 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]
3. 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]
4. 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]
5. 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]
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. 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]
8. Use of Endoglycosidase H as a diagnostic tool for MAN1B1-CDG patients.
Duvet S; Mouajjah D; Péanne R; Matthijs G; Raymond K; Jaeken J; Morava E; Foulquier F
Electrophoresis; 2018 Dec; 39(24):3133-3141. PubMed ID: 29947113
[TBL] [Abstract][Full Text] [Related]
9. Increased Clinical Sensitivity and Specificity of Plasma Protein
Chen J; Li X; Edmondson A; Meyers GD; Izumi K; Ackermann AM; Morava E; Ficicioglu C; Bennett MJ; He M
Clin Chem; 2019 May; 65(5):653-663. PubMed ID: 30770376
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. A Novel N-Tetrasaccharide in Patients with Congenital Disorders of Glycosylation, Including Asparagine-Linked Glycosylation Protein 1, Phosphomannomutase 2, and Mannose Phosphate Isomerase Deficiencies.
Zhang W; James PM; Ng BG; Li X; Xia B; Rong J; Asif G; Raymond K; Jones MA; Hegde M; Ju T; Cummings RD; Clarkson K; Wood T; Boerkoel CF; Freeze HH; He M
Clin Chem; 2016 Jan; 62(1):208-17. PubMed ID: 26430078
[TBL] [Abstract][Full Text] [Related]
12. Clinical glycomics for the diagnosis of congenital disorders of glycosylation.
Abu Bakar N; Lefeber DJ; van Scherpenzeel M
J Inherit Metab Dis; 2018 May; 41(3):499-513. PubMed ID: 29497882
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. N-Glycosylation of Serum IgG and Total Glycoproteins in MAN1B1 Deficiency.
Saldova R; Stöckmann H; O'Flaherty R; Lefeber DJ; Jaeken J; Rudd PM
J Proteome Res; 2015 Oct; 14(10):4402-12. PubMed ID: 26401844
[TBL] [Abstract][Full Text] [Related]
15. Mass spectrometry for congenital disorders of glycosylation, CDG.
Wada Y
J Chromatogr B Analyt Technol Biomed Life Sci; 2006 Jun; 838(1):3-8. PubMed ID: 16517226
[TBL] [Abstract][Full Text] [Related]
16. High-resolution mass spectrometry glycoprofiling of intact transferrin for diagnosis and subtype identification in the congenital disorders of glycosylation.
van Scherpenzeel M; Steenbergen G; Morava E; Wevers RA; Lefeber DJ
Transl Res; 2015 Dec; 166(6):639-649.e1. PubMed ID: 26307094
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. A new strategy implementing mass spectrometry in the diagnosis of congenital disorders of N-glycosylation (CDG).
Casetta B; Malvagia S; Funghini S; Martinelli D; Dionisi-Vici C; Barone R; Fiumara A; Donati MA; Guerrini R; la Marca G
Clin Chem Lab Med; 2020 Aug; 59(1):165-171. PubMed ID: 32776892
[TBL] [Abstract][Full Text] [Related]
19. Dissecting Total Plasma and Protein-Specific Glycosylation Profiles in Congenital Disorders of Glycosylation.
Hipgrave Ederveen AL; de Haan N; Baerenfaenger M; Lefeber DJ; Wuhrer M
Int J Mol Sci; 2020 Oct; 21(20):. PubMed ID: 33076454
[TBL] [Abstract][Full Text] [Related]
20. A rapid mass spectrometric strategy for the characterization of N- and O-glycan chains in the diagnosis of defects in glycan biosynthesis.
Faid V; Chirat F; Seta N; Foulquier F; Morelle W
Proteomics; 2007 Jun; 7(11):1800-13. PubMed ID: 17520685
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]