BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

648 related articles for article (PubMed ID: 25192513)

  • 1. Congenital disorders of glycosylation with emphasis on cerebellar involvement.
    Barone R; Fiumara A; Jaeken J
    Semin Neurol; 2014 Jul; 34(3):357-66. PubMed ID: 25192513
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Congenital disorders of glycosylation.
    Jaeken J
    Handb Clin Neurol; 2013; 113():1737-43. PubMed ID: 23622397
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A Population-Based Study on Congenital Disorders of Protein N- and Combined with O-Glycosylation Experience in Clinical and Genetic Diagnosis.
    Pérez-Cerdá C; Girós ML; Serrano M; Ecay MJ; Gort L; Pérez Dueñas B; Medrano C; García-Alix A; Artuch R; Briones P; Pérez B
    J Pediatr; 2017 Apr; 183():170-177.e1. PubMed ID: 28139241
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Clinical and molecular diagnosis of non-phosphomannomutase 2 N-linked congenital disorders of glycosylation in Spain.
    Medrano C; Vega A; Navarrete R; Ecay MJ; Calvo R; Pascual SI; Ruiz-Pons M; Toledo L; García-Jiménez I; Arroyo I; Campo A; Couce ML; Domingo-Jiménez MR; García-Silva MT; González-Gutiérrez-Solana L; Hierro L; Martín-Hernández E; Martínez-Pardo M; Roldán S; Tomás M; Cabrera JC; Mártinez-Bugallo F; Martín-Viota L; Vitoria-Miñana I; Lefeber DJ; Girós ML; Serrano Gimare M; Ugarte M; Pérez B; Pérez-Cerdá C
    Clin Genet; 2019 May; 95(5):615-626. PubMed ID: 30653653
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. 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]  

  • 7. Congenital disorders of glycosylation.
    Jaeken J; Matthijs G
    Annu Rev Genomics Hum Genet; 2001; 2():129-51. PubMed ID: 11701646
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. SRD5A3-CDG: a patient with a novel mutation.
    Kasapkara CS; Tümer L; Ezgü FS; Hasanoğlu A; Race V; Matthijs G; Jaeken J
    Eur J Paediatr Neurol; 2012 Sep; 16(5):554-6. PubMed ID: 22240719
    [TBL] [Abstract][Full Text] [Related]  

  • 10. ALG1-CDG: a new case with early fatal outcome.
    Rohlfing AK; Rust S; Reunert J; Tirre M; Du Chesne I; Wemhoff S; Meinhardt F; Hartmann H; Das AM; Marquardt T
    Gene; 2014 Jan; 534(2):345-51. PubMed ID: 24157261
    [TBL] [Abstract][Full Text] [Related]  

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

  • 12. Congenital disorders of glycosylation: an update on defects affecting the biosynthesis of dolichol-linked oligosaccharides.
    Haeuptle MA; Hennet T
    Hum Mutat; 2009 Dec; 30(12):1628-41. PubMed ID: 19862844
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Clinical, biochemical and molecular phenotype of congenital disorders of glycosylation: long-term follow-up.
    Bogdańska A; Lipiński P; Szymańska-Rożek P; Jezela-Stanek A; Rokicki D; Socha P; Tylki-Szymańska A
    Orphanet J Rare Dis; 2021 Jan; 16(1):17. PubMed ID: 33407696
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing.
    Timal S; Hoischen A; Lehle L; Adamowicz M; Huijben K; Sykut-Cegielska J; Paprocka J; Jamroz E; van Spronsen FJ; Körner C; Gilissen C; Rodenburg RJ; Eidhof I; Van den Heuvel L; Thiel C; Wevers RA; Morava E; Veltman J; Lefeber DJ
    Hum Mol Genet; 2012 Oct; 21(19):4151-61. PubMed ID: 22492991
    [TBL] [Abstract][Full Text] [Related]  

  • 15. COG1-congenital disorders of glycosylation: Milder presentation and review.
    Salazar M; Miyake N; Silva S; Solar B; Papazoglu GM; Asteggiano CG; Matsumoto N
    Clin Genet; 2021 Sep; 100(3):318-323. PubMed ID: 33960418
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. 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]  

  • 18. 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]  

  • 19. Unique clinical presentations and follow-up outcomes from experience with congenital disorders of glycosylation: PMM2-PGM1-DPAGT1-MPI-POMT2-B3GALNT2-DPM1-SRD5A3-CDG.
    Yoldas Celik M; Yazici H; Erdem F; Yuksel Yanbolu A; Aykut A; Durmaz A; Zeybek S; Canda E; Kalkan Ucar S; Coker M
    J Pediatr Endocrinol Metab; 2023 Jun; 36(6):530-538. PubMed ID: 37042760
    [TBL] [Abstract][Full Text] [Related]  

  • 20.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 33.