209 related articles for article (PubMed ID: 25994334)
1. Evaluation of disease burden and response to treatment in adults with type 1 Gaucher disease using a validated disease severity scoring system (DS3).
Weinreb NJ; Finegold DN; Feingold E; Zeng Z; Rosenbloom BE; Shankar SP; Amato D
Orphanet J Rare Dis; 2015 May; 10():64. PubMed ID: 25994334
[TBL] [Abstract][Full Text] [Related]
2. Correlating liver stiffness with disease severity scoring system (DS3) values in Gaucher disease type 1 (GD1) patients.
Serai SD; Naidu AP; Andrew Burrow T; Prada CE; Xanthakos S; Towbin AJ
Mol Genet Metab; 2018 Mar; 123(3):357-363. PubMed ID: 29361370
[TBL] [Abstract][Full Text] [Related]
3. A new framework for evaluating the health impacts of treatment for Gaucher disease type 1.
Ganz ML; Stern S; Ward A; Nalysnyk L; Selzer M; Hamed A; Weinreb N
Orphanet J Rare Dis; 2017 Feb; 12(1):38. PubMed ID: 28219443
[TBL] [Abstract][Full Text] [Related]
4. A validated disease severity scoring system for adults with type 1 Gaucher disease.
Weinreb NJ; Cappellini MD; Cox TM; Giannini EH; Grabowski GA; Hwu WL; Mankin H; Martins AM; Sawyer C; vom Dahl S; Yeh MS; Zimran A
Genet Med; 2010 Jan; 12(1):44-51. PubMed ID: 20027115
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. Baseline characteristics and outcome in Romanian patients with Gaucher disease type 1.
Grigorescu-Sido P; Drugan C; Alkhzouz C; Zimmermann A; Coldea C; Denes C; Grigorescu MD; Cret V; Bucerzan S
Eur J Intern Med; 2010 Apr; 21(2):104-13. PubMed ID: 20206881
[TBL] [Abstract][Full Text] [Related]
7. Genome-wide association study of N370S homozygous Gaucher disease reveals the candidacy of CLN8 gene as a genetic modifier contributing to extreme phenotypic variation.
Zhang CK; Stein PB; Liu J; Wang Z; Yang R; Cho JH; Gregersen PK; Aerts JM; Zhao H; Pastores GM; Mistry PK
Am J Hematol; 2012 Apr; 87(4):377-83. PubMed ID: 22388998
[TBL] [Abstract][Full Text] [Related]
8. Evaluation of Bone Marrow Infiltration in Non-Neuropathic Gaucher Disease Patients with Use of Whole-Body MRI--A Retrospective Data Analysis.
Laudemann K; Moos L; Mengel KE; Lollert A; Reinke J; Brixius-Huth M; Wagner D; Düber C; Staatz G
Rofo; 2015 Dec; 187(12):1093-8. PubMed ID: 26200566
[TBL] [Abstract][Full Text] [Related]
9. Children with type 1 Gaucher disease: Changing profiles in the 21st century.
Elstein D; Altarescu G; Abrahamov A; Zimran A
Blood Cells Mol Dis; 2018 Feb; 68():93-96. PubMed ID: 28185830
[TBL] [Abstract][Full Text] [Related]
10. Phenotype/genotype correlations in Gaucher disease type I: clinical and therapeutic implications.
Sibille A; Eng CM; Kim SJ; Pastores G; Grabowski GA
Am J Hum Genet; 1993 Jun; 52(6):1094-101. PubMed ID: 8503443
[TBL] [Abstract][Full Text] [Related]
11. Diagnosis features of pediatric Gaucher disease patients in the era of enzymatic therapy, a national-base study from the Spanish Registry of Gaucher Disease.
Andrade-Campos M; Alfonso P; Irun P; Armstrong J; Calvo C; Dalmau J; Domingo MR; Barbera JL; Cano H; Fernandez-Galán MA; Franco R; Gracia I; Gracia-Antequera M; Ibañez A; Lendinez F; Madruga M; Martin-Hernández E; O'Callaghan MDM; Del Soto AP; Del Prado YR; Sancho-Val I; Sanjurjo P; Pocovi M; Giraldo P
Orphanet J Rare Dis; 2017 May; 12(1):84. PubMed ID: 28468677
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Gaucher disease in Spanish patients: analysis of eight mutations.
Cormand B; Vilageliu L; Burguera JM; Balcells S; Gonzàlez-Duarte R; Grinberg D; Chabás A
Hum Mutat; 1995; 5(4):303-9. PubMed ID: 7627184
[TBL] [Abstract][Full Text] [Related]
14. Phenotypic heterogeneity of N370S homozygotes with type I Gaucher disease: an analysis of 798 patients from the ICGG Gaucher Registry.
Fairley C; Zimran A; Phillips M; Cizmarik M; Yee J; Weinreb N; Packman S
J Inherit Metab Dis; 2008 Dec; 31(6):738-44. PubMed ID: 18979180
[TBL] [Abstract][Full Text] [Related]
15. Risk factors for fractures and avascular osteonecrosis in type 1 Gaucher disease: a study from the International Collaborative Gaucher Group (ICGG) Gaucher Registry.
Khan A; Hangartner T; Weinreb NJ; Taylor JS; Mistry PK
J Bone Miner Res; 2012 Aug; 27(8):1839-48. PubMed ID: 22692814
[TBL] [Abstract][Full Text] [Related]
16. Pulmonary vascular disease in Gaucher disease: clinical spectrum, determinants of phenotype and long-term outcomes of therapy.
Lo SM; Liu J; Chen F; Pastores GM; Knowles J; Boxer M; Aleck K; Mistry PK
J Inherit Metab Dis; 2011 Jun; 34(3):643-50. PubMed ID: 21445609
[TBL] [Abstract][Full Text] [Related]
17. The incidence of Parkinsonism in patients with type 1 Gaucher disease: data from the ICGG Gaucher Registry.
Rosenbloom B; Balwani M; Bronstein JM; Kolodny E; Sathe S; Gwosdow AR; Taylor JS; Cole JA; Zimran A; Weinreb NJ
Blood Cells Mol Dis; 2011 Jan; 46(1):95-102. PubMed ID: 21067946
[TBL] [Abstract][Full Text] [Related]
18. Evaluation of treatment response to enzyme replacement therapy with Velaglucerase alfa in patients with Gaucher disease using whole-body magnetic resonance imaging.
Laudemann K; Moos L; Mengel E; Lollert A; Hoffmann C; Brixius-Huth M; Wagner D; Düber C; Staatz G
Blood Cells Mol Dis; 2016 Mar; 57():35-41. PubMed ID: 26852653
[TBL] [Abstract][Full Text] [Related]
19. The clinical course of untreated Gaucher disease in 22 patients over 10 years: hematological and skeletal manifestations.
Piran S; Roberts A; Patterson MA; Amato D
Blood Cells Mol Dis; 2009; 43(3):289-93. PubMed ID: 19793665
[TBL] [Abstract][Full Text] [Related]
20. Characterization of variants in the glucosylceramide synthase gene and their association with type 1 Gaucher disease severity.
Alfonso P; Navascués J; Navarro S; Medina P; Bolado-Carrancio A; Andreu V; Irún P; Rodríguez-Rey JC; Pocoví M; España F; Giraldo P
Hum Mutat; 2013 Oct; 34(10):1396-403. PubMed ID: 23913449
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
