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Literature DB >> 6289358

Phenotypic manifestations of Gaucher disease: clinical features in 48 biochemically verified type 1 patients and comment on type 2 patients.

E H Kolodny, M D Ullman, H J Mankin, S S Raghavan, J Topol, J L Sullivan.

Abstract

Entities: Disease Species

Mesh：

Substances：

Year: 1982 PMID： 6289358

Source DB: PubMed Journal: Prog Clin Biol Res ISSN： 0361-7742

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18 in total

1. Ex vivo and in vivo effects of isofagomine on acid β-glucosidase variants and substrate levels in Gaucher disease.

Authors: Ying Sun; Benjamin Liou; You-Hai Xu; Brian Quinn; Wujuan Zhang; Rick Hamler; Kenneth D R Setchell; Gregory A Grabowski
Journal: J Biol Chem Date: 2011-12-13 Impact factor: 5.157

2. The neurological manifestations of Gaucher disease type 1: the French Observatoire on Gaucher disease (FROG).

Authors: P Chérin; C Rose; C de Roux-Serratrice; D Tardy; D Dobbelaere; B Grosbois; E Hachulla; R Jaussaud; R-M Javier; E Noël; P Clerson; A Hartmann
Journal: J Inherit Metab Dis Date: 2010-06-02 Impact factor: 4.982

3. Outcome of ten years' echocardiographic follow-up in children with Gaucher disease.

Authors: Dror Rosengarten; Aya Abrahamov; Amiram Nir; Benjamin Farber; Joram Glaser; Ari Zimran; Deborah Elstein
Journal: Eur J Pediatr Date: 2006-08-29 Impact factor: 3.183

Review 4. Current issues in enzyme therapy for Gaucher disease.

Authors: G A Grabowski
Journal: Drugs Date: 1996-08 Impact factor: 9.546

5. Genome-wide association study of N370S homozygous Gaucher disease reveals the candidacy of CLN8 gene as a genetic modifier contributing to extreme phenotypic variation.

Authors: Clarence K Zhang; Philip B Stein; Jun Liu; Zuoheng Wang; Ruhua Yang; Judy H Cho; Peter K Gregersen; Johannes M F G Aerts; Hongyu Zhao; Gregory M Pastores; Pramod K Mistry
Journal: Am J Hematol Date: 2012-03-03 Impact factor: 10.047

Phenotypic manifestations of Gaucher disease: clinical features in 48 biochemically verified type 1 patients and comment on type 2 patients.

1. Ex vivo and in vivo effects of isofagomine on acid β-glucosidase variants and substrate levels in Gaucher disease.

2. The neurological manifestations of Gaucher disease type 1: the French Observatoire on Gaucher disease (FROG).

3. Outcome of ten years' echocardiographic follow-up in children with Gaucher disease.

Review 4. Current issues in enzyme therapy for Gaucher disease.

5. Genome-wide association study of N370S homozygous Gaucher disease reveals the candidacy of CLN8 gene as a genetic modifier contributing to extreme phenotypic variation.

6. Gene mapping and leader polypeptide sequence of human glucocerebrosidase: implications for Gaucher disease.

Review 7. Alglucerase. A pharmacoeconomic appraisal of its use in the treatment of Gaucher's disease.

8. Viable mouse models of acid beta-glucosidase deficiency: the defect in Gaucher disease.

9. Genetic heterogeneity in Gaucher disease.

10. Ultrastructural localization of glucocerebrosidase in cultured Gaucher's disease fibroblasts by immunocytochemistry.