538 related articles for article (PubMed ID: 29497882)
1. 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]
2. 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]
3. Complementarity of electrophoretic, mass spectrometric, and gene sequencing techniques for the diagnosis and characterization of congenital disorders of glycosylation.
Bruneel A; Cholet S; Drouin-Garraud V; Jacquemont ML; Cano A; Mégarbané A; Ruel C; Cheillan D; Dupré T; Vuillaumier-Barrot S; Seta N; Fenaille F
Electrophoresis; 2018 Dec; 39(24):3123-3132. PubMed ID: 29869806
[TBL] [Abstract][Full Text] [Related]
4. Synergistic use of glycomics and single-molecule molecular inversion probes for identification of congenital disorders of glycosylation type-1.
Abu Bakar N; Ashikov A; Brum JM; Smeets R; Kersten M; Huijben K; Keng WT; Speck-Martins CE; de Carvalho DR; de Rizzo IMPO; de Mello WD; Heiner-Fokkema R; Gorman K; Grunewald S; Michelakakis H; Moraitou M; Martinelli D; van Scherpenzeel M; Janssen M; de Boer L; van den Heuvel LP; Thiel C; Lefeber DJ
J Inherit Metab Dis; 2022 Jul; 45(4):769-781. PubMed ID: 35279850
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. 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]
8. What is new in CDG?
Jaeken J; Péanne R
J Inherit Metab Dis; 2017 Jul; 40(4):569-586. PubMed ID: 28484880
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Liver involvement in congenital disorders of glycosylation (CDG). A systematic review of the literature.
Marques-da-Silva D; Dos Reis Ferreira V; Monticelli M; Janeiro P; Videira PA; Witters P; Jaeken J; Cassiman D
J Inherit Metab Dis; 2017 Mar; 40(2):195-207. PubMed ID: 28108845
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. CDG biochemical screening: Where do we stand?
Bruneel A; Cholet S; Tran NT; Mai TD; Fenaille F
Biochim Biophys Acta Gen Subj; 2020 Oct; 1864(10):129652. PubMed ID: 32512173
[TBL] [Abstract][Full Text] [Related]
13. Mass spectrometry in the characterization of human genetic N-glycosylation defects.
Barone R; Sturiale L; Garozzo D
Mass Spectrom Rev; 2009; 28(3):517-42. PubMed ID: 18844296
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. 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]
16. Glycomic Characterization of Induced Pluripotent Stem Cells Derived from a Patient Suffering from Phosphomannomutase 2 Congenital Disorder of Glycosylation (PMM2-CDG).
Thiesler CT; Cajic S; Hoffmann D; Thiel C; van Diepen L; Hennig R; Sgodda M; Weiβmann R; Reichl U; Steinemann D; Diekmann U; Huber NM; Oberbeck A; Cantz T; Kuss AW; Körner C; Schambach A; Rapp E; Buettner FF
Mol Cell Proteomics; 2016 Apr; 15(4):1435-52. PubMed ID: 26785728
[TBL] [Abstract][Full Text] [Related]
17. Laboratory diagnosis of congenital disorders of glycosylation type I by analysis of transferrin glycoforms.
Babovic-Vuksanovic D; O'Brien JF
Mol Diagn Ther; 2007; 11(5):303-11. PubMed ID: 17963418
[TBL] [Abstract][Full Text] [Related]
18. 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]
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. Clinical diagnostics and therapy monitoring in the congenital disorders of glycosylation.
Van Scherpenzeel M; Willems E; Lefeber DJ
Glycoconj J; 2016 Jun; 33(3):345-58. PubMed ID: 26739145
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]