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 *

114 related articles for article (PubMed ID: 32246563)

  • 1. Mannosyl-oligosaccharide glucosidase - congenital disorder of glycosylation: A patient with novel variants.
    Ota M; Miyahara J; Itano A; Sugiura H; Ohki S
    Pediatr Int; 2020 Mar; 62(3):417-418. PubMed ID: 32246563
    [No Abstract]   [Full Text] [Related]  

  • 2. Characteristic dysmorphic features in congenital disorders of glycosylation type IIb.
    Kim YM; Seo GH; Jung E; Jang JH; Kim SZ; Lee BH
    J Hum Genet; 2018 Mar; 63(3):383-386. PubMed ID: 29235540
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Identification and characterization of novel mutations in MOGS in a Chinese patient with infantile spams.
    Peiwei Zhao ; Peng X; Luo S; Huang Y; Tan L; Shao J; He X
    Neurogenetics; 2020 Apr; 21(2):97-104. PubMed ID: 31925597
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Glycosylation, hypogammaglobulinemia, and resistance to viral infections.
    Sadat MA; Moir S; Chun TW; Lusso P; Kaplan G; Wolfe L; Memoli MJ; He M; Vega H; Kim LJY; Huang Y; Hussein N; Nievas E; Mitchell R; Garofalo M; Louie A; Ireland DC; Grunes C; Cimbro R; Patel V; Holzapfel G; Salahuddin D; Bristol T; Adams D; Marciano BE; Hegde M; Li Y; Calvo KR; Stoddard J; Justement JS; Jacques J; Priel DAL; Murray D; Sun P; Kuhns DB; Boerkoel CF; Chiorini JA; Di Pasquale G; Verthelyi D; Rosenzweig SD
    N Engl J Med; 2014 Apr; 370(17):1615-1625. PubMed ID: 24716661
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Compound heterozygous variants in MOGS inducing congenital disorders of glycosylation (CDG) IIb.
    Li M; Xu Y; Wang Y; Yang XA; Jin D
    J Hum Genet; 2019 Mar; 64(3):265-268. PubMed ID: 30587846
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Congenital disorders of glycosylation type IIb with MOGS mutations cause early infantile epileptic encephalopathy, dysmorphic features, and hepatic dysfunction.
    Anzai R; Tsuji M; Yamashita S; Wada Y; Okamoto N; Saitsu H; Matsumoto N; Goto T
    Brain Dev; 2021 Mar; 43(3):402-410. PubMed ID: 33261925
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Viral resistance of MOGS-CDG patients implies a broad-spectrum strategy against acute virus infections.
    Chang J; Block TM; Guo JT
    Antivir Ther; 2015; 20(3):257-9. PubMed ID: 25318123
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Mitotic Intragenic Recombination: A Mechanism of Survival for Several Congenital Disorders of Glycosylation.
    Kane MS; Davids M; Adams C; Wolfe LA; Cheung HW; Gropman A; Huang Y; ; Ng BG; Freeze HH; Adams DR; Gahl WA; Boerkoel CF
    Am J Hum Genet; 2016 Feb; 98(2):339-46. PubMed ID: 26805780
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Abrogation of glucosidase I-mediated glycoprotein deglucosylation results in a sick phenotype in fission yeasts: Model for the human MOGS-CDG disorder.
    Gallo GL; Valko A; Aramburu SI; Etchegaray E; Völker C; Parodi AJ; D'Alessio C
    J Biol Chem; 2018 Dec; 293(52):19957-19973. PubMed ID: 30389790
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Serum N-glycomics of a novel CDG-IIb patient reveals aberrant IgG glycosylation.
    Beimdiek J; Hennig R; Burock R; Puk O; Biskup S; Rapp E; Lesinski-Schiedat A; Buettner FFR; Das AM
    Glycobiology; 2022 Apr; 32(5):380-390. PubMed ID: 35137040
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Congenital glycosylation disorder: a novel presentation of coexisting anterior and posterior segment pathology and its implications in pediatric cataract management.
    Etzel JD; Neely KA; Ely AL
    J AAPOS; 2019 Oct; 23(5):297-300. PubMed ID: 31153949
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Oligosaccharyltransferase complex-congenital disorders of glycosylation: A novel congenital disorder of glycosylation.
    Bryant EM; Millichap JJ; Spinelli E; Calhoun JD; Miller C; Giannelli J; Wolak J; Sanders V; Carvill GL; Charrow J
    Am J Med Genet A; 2020 Jun; 182(6):1460-1465. PubMed ID: 32267060
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions.
    Ng BG; Eklund EA; Shiryaev SA; Dong YY; Abbott MA; Asteggiano C; Bamshad MJ; Barr E; Bernstein JA; Chelakkadan S; Christodoulou J; Chung WK; Ciliberto MA; Cousin J; Gardiner F; Ghosh S; Graf WD; Grunewald S; Hammond K; Hauser NS; Hoganson GE; Houck KM; Kohler JN; Morava E; Larson AA; Liu P; Madathil S; McCormack C; Meeks NJL; Miller R; Monaghan KG; Nickerson DA; Palculict TB; Papazoglu GM; Pletcher BA; Scheffer IE; Schenone AB; Schnur RE; Si Y; Rowe LJ; Serrano Russi AH; Russo RS; Thabet F; Tuite A; Villanueva MM; Wang RY; Webster RI; Wilson D; Zalan A; ; Wolfe LA; Rosenfeld JA; Rhodes L; Freeze HH
    J Inherit Metab Dis; 2020 Nov; 43(6):1333-1348. PubMed ID: 32681751
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Molecular diagnostic testing for congenital disorders of glycosylation (CDG): detection rate for single gene testing and next generation sequencing panel testing.
    Jones MA; Rhodenizer D; da Silva C; Huff IJ; Keong L; Bean LJ; Coffee B; Collins C; Tanner AK; He M; Hegde MR
    Mol Genet Metab; 2013; 110(1-2):78-85. PubMed ID: 23806237
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. Identification of a case of
    Gupta N; Verma G; Kabra M; Bijarnia-Mahay S; Ganapathy A
    Indian J Med Res; 2018 Apr; 147(4):422-426. PubMed ID: 29998879
    [No Abstract]   [Full Text] [Related]  

  • 18. Application of whole exome sequencing to a rare inherited metabolic disease with neurological and gastrointestinal manifestations: a congenital disorder of glycosylation mimicking glycogen storage disease.
    Choi R; Woo HI; Choe BH; Park S; Yoon Y; Ki CS; Lee SY; Kim JW; Song J; Kim DS; Kwon S; Park HD
    Clin Chim Acta; 2015 Apr; 444():50-3. PubMed ID: 25681648
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A case with congenital disorder of glycosylation with defective fucosylation 2 and new mutation in FUK gene.
    Özgün N; Şahin Y
    Brain Dev; 2022 Mar; 44(3):239-243. PubMed ID: 34802815
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 6.