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 *

196 related articles for article (PubMed ID: 20307947)

  • 21. [Gaucher disease: clinical, genetic and therapeutic aspects].
    Germain DP
    Pathol Biol (Paris); 2004 Jul; 52(6):343-50. PubMed ID: 15261378
    [TBL] [Abstract][Full Text] [Related]  

  • 22. [Gaucher disease].
    Timonen T; Möttönen M; Nousiainen T; Herva R; Savolainen ER
    Duodecim; 2005; 121(19):2068-76. PubMed ID: 16300295
    [No Abstract]   [Full Text] [Related]  

  • 23. Identification and characterization of a novel mutation c.1090G>T (G325W) and nine common mutant alleles leading to Gaucher disease in Spanish patients.
    Torralba MA; Pérez-Calvo JI; Pastores GM; Cenarro A; Giraldo P; Pocoví M
    Blood Cells Mol Dis; 2001; 27(2):489-95. PubMed ID: 11259172
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Congenital ichthyosis in severe type II Gaucher disease with a homozygous null mutation.
    Haverkaemper S; Marquardt T; Hausser I; Timme K; Kuehn T; Hertzberg C; Rossi R
    Neonatology; 2011; 100(2):194-7. PubMed ID: 21455010
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Enzyme replacement therapy of infantile Gaucher disease.
    Erikson A; Johansson K; Månsson JE; Svennerholm L
    Neuropediatrics; 1993 Aug; 24(4):237-8. PubMed ID: 8232786
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Audiometric abnormalities in children with Gaucher disease type 3.
    Bamiou DE; Campbell P; Liasis A; Page J; Sirimanna T; Boyd S; Vellodi A; Harris C
    Neuropediatrics; 2001 Jun; 32(3):136-41. PubMed ID: 11521209
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Prospective study of neurological responses to treatment with macrophage-targeted glucocerebrosidase in patients with type 3 Gaucher's disease.
    Schiffmann R; Heyes MP; Aerts JM; Dambrosia JM; Patterson MC; DeGraba T; Parker CC; Zirzow GC; Oliver K; Tedeschi G; Brady RO; Barton NW
    Ann Neurol; 1997 Oct; 42(4):613-21. PubMed ID: 9382473
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Outcome of early-treated type III Gaucher disease patients.
    Lee NC; Chien YH; Wong SL; Sheen JM; Tsai FJ; Peng SF; Leung JH; Chao MC; Shun CT; Hwu WL
    Blood Cells Mol Dis; 2014 Sep; 53(3):105-9. PubMed ID: 24984925
    [TBL] [Abstract][Full Text] [Related]  

  • 29. [Gaucher's disease with D409H/D409H genotype. evolution with enzyme replacement therapy].
    Castelló Girona F; Domínguez Luengo C; del Toro Riera M; Chabás Bergon A
    An Esp Pediatr; 2001 Mar; 54(3):310-2. PubMed ID: 11262263
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Gaucher type 2 disease: identification of a novel transversion mutation in a French-Irish patient.
    Choy FY; Humphries ML; Ben-Yoseph Y
    Am J Med Genet; 1998 Jun; 78(1):92-3. PubMed ID: 9637431
    [No Abstract]   [Full Text] [Related]  

  • 31. Gaucher disease of the Norrbottnian type (type III). Phenotypic manifestations.
    Svennerholm L; Dreborg S; Erikson A; Groth CG; Hillborg PO; Håkansson G; Nilsson O; Tibblin E
    Prog Clin Biol Res; 1982; 95():67-94. PubMed ID: 6812091
    [No Abstract]   [Full Text] [Related]  

  • 32. Mutation analysis of 28 Gaucher disease patients: the Australasian experience.
    Lewis BD; Nelson PV; Robertson EF; Morris CP
    Am J Med Genet; 1994 Jan; 49(2):218-23. PubMed ID: 8116672
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Phenotypic manifestations of Gaucher disease: clinical features in 48 biochemically verified type 1 patients and comment on type 2 patients.
    Kolodny EH; Ullman MD; Mankin HJ; Raghavan SS; Topol J; Sullivan JL
    Prog Clin Biol Res; 1982; 95():33-65. PubMed ID: 6289358
    [No Abstract]   [Full Text] [Related]  

  • 34. Phenotypic heterogeneity in patients with Gaucher disease and the N370S/V394L genotype.
    Elstein D; Scott CR; Zeigler M; Abrahamov A; Zimran A
    Genet Test; 2005; 9(1):26-9. PubMed ID: 15857183
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Gaucher Disease: Clinical, Biological and Therapeutic Aspects.
    Dandana A; Ben Khelifa S; Chahed H; Miled A; Ferchichi S
    Pathobiology; 2016; 83(1):13-23. PubMed ID: 26588331
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Is the perinatal lethal form of Gaucher disease more common than classic type 2 Gaucher disease?
    Stone DL; van Diggelen OP; de Klerk JB; Gaillard JL; Niermeijer MF; Willemsen R; Tayebi N; Sidransky E
    Eur J Hum Genet; 1999; 7(4):505-9. PubMed ID: 10352942
    [TBL] [Abstract][Full Text] [Related]  

  • 37. [Enzyme replacement therapy in adult patients with type I Gaucher disease].
    Ponomarev RV; Lukina EA
    Ter Arkh; 2019 Jul; 91(7):127-131. PubMed ID: 32598746
    [TBL] [Abstract][Full Text] [Related]  

  • 38. [Type 1 Gaucher disease in a pediatric patient: 12 year's evolution].
    García M; Casanova C; Chabás A; Viosca E; Martínez B
    Sangre (Barc); 1997 Jun; 42(3):227-9. PubMed ID: 9381267
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Identification of a 55-bp deletion in the glucocerebrosidase gene in Gaucher disease: phenotypic presentation and implications for mutation detection assays.
    Mao R; O'Brien JF; Rao S; Schmitt E; Roa B; Feldman GL; Spence WC; Snow K
    Mol Genet Metab; 2001 Mar; 72(3):248-53. PubMed ID: 11243731
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Type 2 Gaucher disease: phenotypic variation and genotypic heterogeneity.
    Gupta N; Oppenheim IM; Kauvar EF; Tayebi N; Sidransky E
    Blood Cells Mol Dis; 2011 Jan; 46(1):75-84. PubMed ID: 20880730
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 10.