137 related articles for article (PubMed ID: 9381267)
1. [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]
2. RecTL: a complex allele of the glucocerebrosidase gene associated with a mild clinical course of Gaucher disease.
Zimran A; Horowitz M
Am J Med Genet; 1994 Mar; 50(1):74-8. PubMed ID: 8160756
[TBL] [Abstract][Full Text] [Related]
3. Type I Gaucher's disease with homozygous R463C mutation without neurological involvement.
Bolaman Z; Kadikoylu G; Levi E; Barutca S; Temucin K
Haematologia (Budap); 2002; 32(4):487-93. PubMed ID: 12803123
[TBL] [Abstract][Full Text] [Related]
4. [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]
5. Gaucher disease among Chinese patients: review on genotype/phenotype correlation from 29 patients and identification of novel and rare alleles.
Choy FY; Zhang W; Shi HP; Zay A; Campbell T; Tang N; Ferreira P
Blood Cells Mol Dis; 2007; 38(3):287-93. PubMed ID: 17196853
[TBL] [Abstract][Full Text] [Related]
6. Variant Gaucher disease characterized by dysmorphic features, absence of cardiovascular involvement, laryngospasm, and compound heterozygosity for a novel mutation (D409H/C16S).
Bodamer OA; Church HJ; Cooper A; Wraith JE; Scott CR; Scaglia F
Am J Med Genet; 2002 May; 109(4):328-31. PubMed ID: 11992489
[TBL] [Abstract][Full Text] [Related]
7. Genotypic heterogeneity and phenotypic variation among patients with type 2 Gaucher's disease.
Tayebi N; Reissner KJ; Lau EK; Stubblefield BK; Klineburgess AC; Martin BM; Sidransky E
Pediatr Res; 1998 May; 43(5):571-8. PubMed ID: 9585001
[TBL] [Abstract][Full Text] [Related]
8. Molecular characterization of type 3 (neuronopathic) Gaucher disease in Thai patients.
Suwannarat P; Keeratichamroen S; Wattanasirichaigoon D; Ngiwsara L; Cairns JR; Svasti J; Visudtibhan A; Pangkanon S
Blood Cells Mol Dis; 2007; 39(3):348-52. PubMed ID: 17689991
[TBL] [Abstract][Full Text] [Related]
9. [Enzyme replacement therapy in Gaucher disease: monitoring visceral and bone changes with MRI].
Tóth J; Szücs FZ; Benkö K; Maródi L
Orv Hetil; 2003 Apr; 144(16):749-55. PubMed ID: 12778625
[TBL] [Abstract][Full Text] [Related]
10. Animal model of Gaucher's disease from targeted disruption of the mouse glucocerebrosidase gene.
Tybulewicz VL; Tremblay ML; LaMarca ME; Willemsen R; Stubblefield BK; Winfield S; Zablocka B; Sidransky E; Martin BM; Huang SP
Nature; 1992 Jun; 357(6377):407-10. PubMed ID: 1594045
[TBL] [Abstract][Full Text] [Related]
11. [Gaucher's disease ].
Belmatoug N; Caubel I; Stirnemann J; Billette de Villemeur T
J Soc Biol; 2002; 196(2):141-9. PubMed ID: 12360743
[TBL] [Abstract][Full Text] [Related]
12. [Gaucher disease type I diagnosed at 63 years old presenting with thrombocytopenia].
Kawahara S; Kato A; Oshimi K; Ida H
Rinsho Ketsueki; 2008 May; 49(5):335-9. PubMed ID: 18572811
[TBL] [Abstract][Full Text] [Related]
13. Gaucher disease: progressive mesenteric and mediastinal lymphadenopathy despite enzyme therapy.
Burrow TA; Cohen MB; Bokulic R; Deutsch G; Choudhary A; Falcone RA; Grabowski GA
J Pediatr; 2007 Feb; 150(2):202-6. PubMed ID: 17236903
[TBL] [Abstract][Full Text] [Related]
14. An unusual presentation of Gaucher's disease: aortic valve fibrosis in a patient homozygous for a rare G377S mutation.
Perić Z; Kardum-Skelin I; Puskarić BJ; Letilović T; Vrhovac R; Jaksić B
Coll Antropol; 2010 Mar; 34(1):275-8. PubMed ID: 20432762
[TBL] [Abstract][Full Text] [Related]
15. Report of the Spanish Gaucher's disease registry: clinical and genetic characteristics.
Giraldo P; Pocoví M; Pérez-Calvo J; Rubio-Félix D; Giralt M
Haematologica; 2000 Aug; 85(8):792-9. PubMed ID: 10942924
[TBL] [Abstract][Full Text] [Related]
16. [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]
17. Co-morbidity in Gaucher's disease results of a nationwide enquiry in Spain.
Pérez-Calvo J; Bernal M; Giraldo P; Torralba MA; Civeira F; Giralt M; Pocovi M
Eur J Med Res; 2000 Jun; 5(6):231-5. PubMed ID: 10882637
[TBL] [Abstract][Full Text] [Related]
18. Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease.
Stone DL; Tayebi N; Orvisky E; Stubblefield B; Madike V; Sidransky E
Hum Mutat; 2000; 15(2):181-8. PubMed ID: 10649495
[TBL] [Abstract][Full Text] [Related]
19. Gaucher's disease: clinical, morphologic, and pathogenetic considerations.
Lee RE; Peters SP; Glew RH
Pathol Annu; 1977; 12 Pt 2():309-39. PubMed ID: 600549
[No Abstract] [Full Text] [Related]
20. Perinatal lethal phenotype with generalized ichthyosis in a type 2 Gaucher disease patient with the [L444P;E326K]/P182L genotype: effect of the E326K change in neonatal and classic forms of the disease.
Chabás A; Gort L; Díaz-Font A; Montfort M; Santamaría R; Cidrás M; Grinberg D; Vilageliu L
Blood Cells Mol Dis; 2005; 35(2):253-8. PubMed ID: 15967693
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
