142 related articles for article (PubMed ID: 33667052)
1. Transferrin isoform analysis from dried blood spots and serum samples by gel isoelectric focusing for screening congenital disorders of glycosylation.
Bogdańska A; Kozłowski D; Pajdowska M; Lipiński P; Tylki-Szymańska A
Acta Biochim Pol; 2021 Mar; 68(1):139-142. PubMed ID: 33667052
[TBL] [Abstract][Full Text] [Related]
2. Transferrin glycosylation analysis from dried blood spot cards and capillary blood samples.
Wolking AB; Park JH; Grüneberg M; Reunert J; Fingerhut R; Fobker M; Marquardt T
J Chromatogr B Analyt Technol Biomed Life Sci; 2019 Feb; 1106-1107():64-70. PubMed ID: 30641270
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. Screening using serum percentage of carbohydrate-deficient transferrin for congenital disorders of glycosylation in children with suspected metabolic disease.
Pérez-Cerdá C; Quelhas D; Vega AI; Ecay J; Vilarinho L; Ugarte M
Clin Chem; 2008 Jan; 54(1):93-100. PubMed ID: 18024528
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. Transferrin mutations at the glycosylation site complicate diagnosis of congenital disorders of glycosylation type I.
Guillard M; Wada Y; Hansikova H; Yuasa I; Vesela K; Ondruskova N; Kadoya M; Janssen A; Van den Heuvel LP; Morava E; Zeman J; Wevers RA; Lefeber DJ
J Inherit Metab Dis; 2011 Aug; 34(4):901-6. PubMed ID: 21431619
[TBL] [Abstract][Full Text] [Related]
7. Western blotting with diaminobenzidine detection for the diagnosis of congenital disorders of glycosylation.
Artuch R; Ferrer I; Pineda J; Moreno J; Busquets C; Briones P; Vilaseca MA
J Neurosci Methods; 2003 May; 125(1-2):167-71. PubMed ID: 12763243
[TBL] [Abstract][Full Text] [Related]
8. Ten years of screening for congenital disorders of glycosylation in Argentina: case studies and pitfalls.
Asteggiano CG; Papazoglu M; Bistué Millón MB; Peralta MF; Azar NB; Spécola NS; Guelbert N; Suldrup NS; Pereyra M; Dodelson de Kremer R
Pediatr Res; 2018 Dec; 84(6):837-841. PubMed ID: 30397276
[TBL] [Abstract][Full Text] [Related]
9. The novel transferrin E592A variant impairs the diagnostics of congenital disorders of glycosylation.
Park JH; Zühlsdorf A; Wada Y; Roll C; Rust S; Du Chesne I; Grüneberg M; Reunert J; Marquardt T
Clin Chim Acta; 2014 Sep; 436():135-9. PubMed ID: 24875750
[TBL] [Abstract][Full Text] [Related]
10. What's Wrong with the Transferrin?
Wijeratne N; Tudball R; Choy KW; Fietz M; Doery JC
Clin Chem; 2016 Feb; 62(2):413-4. PubMed ID: 26823612
[No Abstract] [Full Text] [Related]
11. Screening for congenital disorders of glycosylation (CDG): transferrin HPLC versus isoelectric focusing (IEF).
Quintana E; Navarro-Sastre A; Hernández-Pérez JM; García-Villoria J; Montero R; Artuch R; Ribes A; Briones P
Clin Biochem; 2009 Mar; 42(4-5):408-15. PubMed ID: 19146845
[TBL] [Abstract][Full Text] [Related]
12. Comparison of transferrin isoform analysis by capillary electrophoresis and HPLC for screening congenital disorders of glycosylation.
Dave MB; Dherai AJ; Udani VP; Hegde AU; Desai NA; Ashavaid TF
J Clin Lab Anal; 2018 Jan; 32(1):. PubMed ID: 28236367
[TBL] [Abstract][Full Text] [Related]
13. Phenotypic and genotypic spectrum of congenital disorders of glycosylation type I and type II.
Al Teneiji A; Bruun TU; Sidky S; Cordeiro D; Cohn RD; Mendoza-Londono R; Moharir M; Raiman J; Siriwardena K; Kyriakopoulou L; Mercimek-Mahmutoglu S
Mol Genet Metab; 2017 Mar; 120(3):235-242. PubMed ID: 28122681
[TBL] [Abstract][Full Text] [Related]
14. Diagnosis of congenital disorders of glycosylation by capillary zone electrophoresis of serum transferrin.
Carchon HA; Chevigné R; Falmagne JB; Jaeken J
Clin Chem; 2004 Jan; 50(1):101-11. PubMed ID: 14633925
[TBL] [Abstract][Full Text] [Related]
15. Transferrin gene polymorphisms alter the transferrin focusing pattern, making congenital disorder of glycosylation diagnosis difficult.
Lipiński P; Bogdańska A; Sobczyńska-Tomaszewska A; Tylki-Szymańska A
Acta Biochim Pol; 2021 Sep; 68(4):791-793. PubMed ID: 34486878
[TBL] [Abstract][Full Text] [Related]
16. Fast screening of N-glycosylation disorders by sialotransferrin profiling with capillary zone electrophoresis.
Kingma HA; van der Sluijs FH; Heiner-Fokkema MR
Ann Clin Biochem; 2018 Nov; 55(6):693-701. PubMed ID: 29792046
[TBL] [Abstract][Full Text] [Related]
17. Carbohydrate deficient glycoprotein syndrome--like transferrin isoelectric focusing pattern in untreated fructosaemia.
Adamowicz M; Pronicka E
Eur J Pediatr; 1996 Apr; 155(4):347-8. PubMed ID: 8777936
[No Abstract] [Full Text] [Related]
18. Improvement of CDG diagnosis by combined examination of several glycoproteins.
Fang J; Peters V; Assmann B; Körner C; Hoffmann GF
J Inherit Metab Dis; 2004; 27(5):581-90. PubMed ID: 15669673
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Congenital Disorder of Glycosylation (CDG) Presenting as Non-immune Hydrops Fetalis.
Panigrahy N; Lingappa L; Ramadevi AR; Venkatlakshmi A
Indian J Pediatr; 2016 Apr; 83(4):359-60. PubMed ID: 26365158
[No Abstract] [Full Text] [Related]
[Next] [New Search]