BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

242 related articles for article (PubMed ID: 33644825)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. Novel ALG12 variants and hydronephrosis in siblings with impaired N-glycosylation.
    Hiraide T; Wada Y; Matsubayashi T; Kadoya M; Masunaga Y; Ohkubo Y; Nakashima M; Okamoto N; Ogata T; Saitsu H
    Brain Dev; 2021 Oct; 43(9):945-951. PubMed ID: 34092405
    [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. A novel homozygous mutation in the human ALG12 gene results in an aberrant profile of oligomannose N-glycans in patient's serum.
    Ziburová J; Nemčovič M; Šesták S; Bellová J; Pakanová Z; Siváková B; Šalingová A; Šebová C; Ostrožlíková M; Lekka DE; Brucknerová J; Brucknerová I; Skokňová M; Mc Cullough A; Hrčková G; Hlavatá A; Bzdúch V; Mucha J; Baráth P
    Am J Med Genet A; 2021 Nov; 185(11):3494-3501. PubMed ID: 34467644
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. Toward understanding tissue-specific symptoms in dolichol-phosphate-mannose synthesis disorders; insight from DPM3-CDG.
    van Tol W; Michelakakis H; Georgiadou E; van den Bergh P; Moraitou M; Papadimas GK; Papadopoulos C; Huijben K; Alsady M; Willemsen MA; Lefeber DJ
    J Inherit Metab Dis; 2019 Sep; 42(5):984-992. PubMed ID: 30931530
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. 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]  

  • 14. 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]  

  • 15. A patient-based medaka alg2 mutant as a model for hypo-N-glycosylation.
    Gücüm S; Sakson R; Hoffmann M; Grote V; Becker C; Pakari K; Beedgen L; Thiel C; Rapp E; Ruppert T; Thumberger T; Wittbrodt J
    Development; 2021 Jun; 148(11):. PubMed ID: 34106226
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Cryptogenic liver disease in four children: a novel congenital disorder of glycosylation.
    Mandato C; Brive L; Miura Y; Davis JA; Di Cosmo N; Lucariello S; Pagliardini S; Seo NS; Parenti G; Vecchione R; Freeze HH; Vajro P
    Pediatr Res; 2006 Feb; 59(2):293-8. PubMed ID: 16439595
    [TBL] [Abstract][Full Text] [Related]  

  • 17. ALG12-CDG: An unusual patient without intellectual disability and facial dysmorphism, and with a novel variant.
    de la Morena-Barrio ME; Sabater M; de la Morena-Barrio B; Ruhaak RL; Miñano A; Padilla J; Toderici M; Roldán V; Gimeno JR; Vicente V; Corral J
    Mol Genet Genomic Med; 2020 Aug; 8(8):e1304. PubMed ID: 32530140
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy.
    Barone R; Aiello C; Race V; Morava E; Foulquier F; Riemersma M; Passarelli C; Concolino D; Carella M; Santorelli F; Vleugels W; Mercuri E; Garozzo D; Sturiale L; Messina S; Jaeken J; Fiumara A; Wevers RA; Bertini E; Matthijs G; Lefeber DJ
    Ann Neurol; 2012 Oct; 72(4):550-8. PubMed ID: 23109149
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Congenital disorder of glycosylation type Id (CDG Id): phenotypic, biochemical and molecular characterization of a new patient.
    Rimella-Le-Huu A; Henry H; Kern I; Hanquinet S; Roulet-Perez E; Newman CJ; Superti-Furga A; Bonafé L; Ballhausen D
    J Inherit Metab Dis; 2008 Dec; 31 Suppl 2():S381-6. PubMed ID: 18679822
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 13.