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 *

269 related articles for article (PubMed ID: 10801058)

  • 21. 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]  

  • 22. Carbohydrate-deficient glycoprotein syndrome type II.
    Schachter H; Jaeken J
    Biochim Biophys Acta; 1999 Oct; 1455(2-3):179-92. PubMed ID: 10571011
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Carbohydrate-deficient glycoprotein syndrome type IA (phosphomannomutase-deficiency).
    Carchon H; Van Schaftingen E; Matthijs G; Jaeken J
    Biochim Biophys Acta; 1999 Oct; 1455(2-3):155-65. PubMed ID: 10571009
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Congenital disorder of glycosylation type 1a in a macrosomic 16-month-old boy with an atypical phenotype and homozygosity of the N216I mutation.
    Neumann LM; von Moers A; Kunze J; Blankenstein O; Marquardt T
    Eur J Pediatr; 2003 Oct; 162(10):710-3. PubMed ID: 12905014
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Mutations in the MGAT2 gene controlling complex N-glycan synthesis cause carbohydrate-deficient glycoprotein syndrome type II, an autosomal recessive disease with defective brain development.
    Tan J; Dunn J; Jaeken J; Schachter H
    Am J Hum Genet; 1996 Oct; 59(4):810-7. PubMed ID: 8808595
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Successful treatment of carbohydrate deficient glycoprotein syndrome type 1b with oral mannose.
    Hendriksz CJ; McClean P; Henderson MJ; Keir DG; Worthington VC; Imtiaz F; Schollen E; Matthijs G; Winchester BG
    Arch Dis Child; 2001 Oct; 85(4):339-40. PubMed ID: 11567948
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Carbohydrate-deficient glycoprotein syndrome type 1: correction of the glycosylation defect by deprivation of glucose or supplementation of mannose.
    Körner C; Lehle L; von Figura K
    Glycoconj J; 1998 May; 15(5):499-505. PubMed ID: 9881752
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Carbohydrate-deficient glycoprotein syndrome type V: deficiency of dolichyl-P-Glc:Man9GlcNAc2-PP-dolichyl glucosyltransferase.
    Körner C; Knauer R; Holzbach U; Hanefeld F; Lehle L; von Figura K
    Proc Natl Acad Sci U S A; 1998 Oct; 95(22):13200-5. PubMed ID: 9789065
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Yeast Models of Phosphomannomutase 2 Deficiency, a Congenital Disorder of Glycosylation.
    Lao JP; DiPrimio N; Prangley M; Sam FS; Mast JD; Perlstein EO
    G3 (Bethesda); 2019 Feb; 9(2):413-423. PubMed ID: 30530630
    [TBL] [Abstract][Full Text] [Related]  

  • 30. A mutation in the human ortholog of the Saccharomyces cerevisiae ALG6 gene causes carbohydrate-deficient glycoprotein syndrome type-Ic.
    Imbach T; Burda P; Kuhnert P; Wevers RA; Aebi M; Berger EG; Hennet T
    Proc Natl Acad Sci U S A; 1999 Jun; 96(12):6982-7. PubMed ID: 10359825
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Prenatal diagnosis and the subsequent mutation analysis in a family with carbohydrate-deficient glycoprotein type I syndrome: growing evidence to support founder effects within CDG1 populations.
    Crosby A; Jeffery S; Homfray T; Taylor R; Patton M
    Genet Test; 1999; 3(3):305-7. PubMed ID: 10495932
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Carbohydrate-deficient glycoprotein syndrome.
    Krasnewich D; Gahl WA
    Adv Pediatr; 1997; 44():109-40. PubMed ID: 9265969
    [TBL] [Abstract][Full Text] [Related]  

  • 33. A novel disorder of N-glycosylation due to phosphomannose isomerase deficiency.
    de Koning TJ; Dorland L; van Diggelen OP; Boonman AM; de Jong GJ; van Noort WL; De Schryver J; Duran M; van den Berg IE; Gerwig GJ; Berger R; Poll-The BT
    Biochem Biophys Res Commun; 1998 Apr; 245(1):38-42. PubMed ID: 9535779
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Congenital nephrotic syndrome: a novel phenotype of type I carbohydrate-deficient glycoprotein syndrome.
    van der Knaap MS; Wevers RA; Monnens L; Jakobs C; Jaeken J; van Wijk JA
    J Inherit Metab Dis; 1996; 19(6):787-91. PubMed ID: 8982953
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Isoforms and levels of transferrin, antithrombin, alpha(1)-antitrypsin and thyroxine-binding globulin in 48 patients with carbohydrate-deficient glycoprotein syndrome type I.
    Stibler H; Holzbach U; Kristiansson B
    Scand J Clin Lab Invest; 1998 Feb; 58(1):55-61. PubMed ID: 9516657
    [TBL] [Abstract][Full Text] [Related]  

  • 36. A frequent mild mutation in ALG6 may exacerbate the clinical severity of patients with congenital disorder of glycosylation Ia (CDG-Ia) caused by phosphomannomutase deficiency.
    Westphal V; Kjaergaard S; Schollen E; Martens K; Grunewald S; Schwartz M; Matthijs G; Freeze HH
    Hum Mol Genet; 2002 Mar; 11(5):599-604. PubMed ID: 11875054
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Abnormal synthesis of dolichol-linked oligosaccharides in carbohydrate-deficient glycoprotein syndrome.
    Krasnewich DM; Holt GD; Brantly M; Skovby F; Redwine J; Gahl WA
    Glycobiology; 1995 Jul; 5(5):503-10. PubMed ID: 8563136
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Deficiency of dolichol-phosphate-mannose synthase-1 causes congenital disorder of glycosylation type Ie.
    Imbach T; Schenk B; Schollen E; Burda P; Stutz A; Grunewald S; Bailie NM; King MD; Jaeken J; Matthijs G; Berger EG; Aebi M; Hennet T
    J Clin Invest; 2000 Jan; 105(2):233-9. PubMed ID: 10642602
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Carbohydrate-deficient glycoprotein syndrome type 1a: a variant phenotype with borderline cognitive dysfunction, cerebellar hypoplasia, and coagulation disturbances.
    van Ommen CH; Peters M; Barth PG; Vreken P; Wanders RJ; Jaeken J
    J Pediatr; 2000 Mar; 136(3):400-3. PubMed ID: 10700701
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Missense mutations in phosphomannomutase 2 gene in two Japanese families with carbohydrate-deficient glycoprotein syndrome type 1.
    Kondo I; Mizugishi K; Yoneda Y; Hashimoto T; Kuwajima K; Yuasa I; Shigemoto K; Kuroda Y
    Clin Genet; 1999 Jan; 55(1):50-4. PubMed ID: 10066032
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 14.