These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

211 related articles for article (PubMed ID: 34022244)

  • 1. Normal transferrin patterns in congenital disorders of glycosylation with Golgi homeostasis disruption: apolipoprotein C-III at the rescue!
    Raynor A; Vincent-Delorme C; Alaix AS; Cholet S; Dupré T; Vuillaumier-Barrot S; Fenaille F; Besmond C; Bruneel A
    Clin Chim Acta; 2021 Aug; 519():285-290. PubMed ID: 34022244
    [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. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. Transferrin and apolipoprotein C-III isofocusing are complementary in the diagnosis of N- and O-glycan biosynthesis defects.
    Wopereis S; Grünewald S; Huijben KM; Morava E; Mollicone R; van Engelen BG; Lefeber DJ; Wevers RA
    Clin Chem; 2007 Feb; 53(2):180-7. PubMed ID: 17170056
    [TBL] [Abstract][Full Text] [Related]  

  • 7. "Hide and seek": Misleading transferrin variants in PMM2-CDG complicate diagnostics.
    Raynor A; Bruneel A; Vermeersch P; Cholet S; Friedrich S; Eckenweiler M; Schumann A; Hengst S; Tuncel AT; Fenaille F; Thiel C; Rymen D
    Proteomics Clin Appl; 2024 Mar; 18(2):e2300040. PubMed ID: 37876147
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Congenital disorders of glycosylation.
    Jaeken J
    Ann N Y Acad Sci; 2010 Dec; 1214():190-8. PubMed ID: 21175687
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. N-glycome analysis detects dysglycosylation missed by conventional methods in SLC39A8 deficiency.
    Park JH; Mealer RG; Elias AF; Hoffmann S; Grüneberg M; Biskup S; Fobker M; Haven J; Mangels U; Reunert J; Rust S; Schoof J; Schwanke C; Smoller JW; Cummings RD; Marquardt T
    J Inherit Metab Dis; 2020 Nov; 43(6):1370-1381. PubMed ID: 32852845
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. 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]  

  • 13. Clinical and diagnostic approach in unsolved CDG patients with a type 2 transferrin pattern.
    Mohamed M; Guillard M; Wortmann SB; Cirak S; Marklova E; Michelakakis H; Korsch E; Adamowicz M; Koletzko B; van Spronsen FJ; Niezen-Koning KE; Matthijs G; Gardeitchik T; Kouwenberg D; Lim BC; Zeevaert R; Wevers RA; Lefeber DJ; Morava E
    Biochim Biophys Acta; 2011 Jun; 1812(6):691-8. PubMed ID: 21362473
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Congenital Disorders of Glycosylation in Portugal-Two Decades of Experience.
    Quelhas D; Martins E; Azevedo L; Bandeira A; Diogo L; Garcia P; Sequeira S; Ferreira AC; Teles EL; Rodrigues E; Fortuna AM; Mendonça C; Fernandes HC; Medeira A; Gaspar A; Janeiro P; Oliveira A; Laranjeira F; Ribeiro I; Souche E; Race V; Keldermans L; Matthijs G; Jaeken J
    J Pediatr; 2021 Apr; 231():148-156. PubMed ID: 33340551
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort.
    Lam C; Scaglia F; Berry GT; Larson A; Sarafoglou K; Andersson HC; Sklirou E; Tan QKG; Starosta RT; Sadek M; Wolfe L; Horikoshi S; Ali M; Barone R; Campbell T; Chang IJ; Coles K; Cook E; Eklund EA; Engelhardt NM; Freeman M; Friedman J; Fu DYT; Botzo G; Rawls B; Hernandez C; Johnsen C; Keller K; Kramer S; Kuschel B; Leshinski A; Martinez-Duncker I; Mazza GL; Mercimek-Andrews S; Miller BS; Muthusamy K; Neira J; Patterson MC; Pogorelc N; Powers LN; Ramey E; Reinhart M; Squire A; Thies J; Vockley J; Vreugdenhil H; Witters P; Youbi M; Zeighami A; Zemet R; Edmondson AC; Morava E
    Mol Genet Metab; 2024 Aug; 142(4):108509. PubMed ID: 38959600
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A case of ALG11-congenital disorders of glycosylation diagnosed by post-mortem whole exome sequencing.
    Arai Y; Okanishi T; Kanai S; Okazaki T; Koshimizu E; Miyatake S; Maeoka Y; Fujimoto A; Matsumoto N; Maegaki Y
    Brain Dev; 2022 Nov; 44(10):732-736. PubMed ID: 35907674
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Apolipoprotein C-III isofocusing in the diagnosis of genetic defects in O-glycan biosynthesis.
    Wopereis S; Grünewald S; Morava E; Penzien JM; Briones P; García-Silva MT; Demacker PN; Huijben KM; Wevers RA
    Clin Chem; 2003 Nov; 49(11):1839-45. PubMed ID: 14578315
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. Biochemical diagnosis of congenital disorders of glycosylation.
    Raynor A; Haouari W; Lebredonchel E; Foulquier F; Fenaille F; Bruneel A
    Adv Clin Chem; 2024; 120():1-43. PubMed ID: 38762238
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.