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Literature DB >> 9516376

Hematologically important mutations: Gaucher disease.

E Beutler¹, T Gelbart.

Abstract

Entities: Disease Gene

Mesh：

Substances：
Glucosylceramidase

Year: 1998 PMID： 9516376 DOI： 10.1006/bcmd.1998.0165

Source DB: PubMed Journal: Blood Cells Mol Dis ISSN： 1079-9796 Impact factor: 3.039

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Cited

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8 in total

1. Glucosidase acid beta gene mutations in Egyptian children with Gaucher disease and relation to disease phenotypes.

Authors: Zakarya El-Morsy; Mohamed T Khashaba; Othman El-Sayed Soliman; Sohier Yahia; Dina Abd El-Hady
Journal: World J Pediatr Date: 2011-06-01 Impact factor: 2.764

2. Rheumatologic aspects of lysosomal storage diseases.

Authors: Bernhard Manger; Eugen Mengel; Roland M Schaefer
Journal: Clin Rheumatol Date: 2006-05-06 Impact factor: 2.980

3. Intracellular degradation of fluorescent glycolipids by lysosomal enzymes and their activators.

Authors: L Madar-Shapiro; M Pasmanik-Chor; T Dinur; A Dagan; S Gatt; M Horowitz
Journal: J Inherit Metab Dis Date: 1999-06 Impact factor: 4.982

4. Reciprocal and nonreciprocal recombination at the glucocerebrosidase gene region: implications for complexity in Gaucher disease.

Authors: Nahid Tayebi; Barbara K Stubblefield; Joseph K Park; Eduard Orvisky; Jamie M Walker; Mary E LaMarca; Ellen Sidransky
Journal: Am J Hum Genet Date: 2003-02-13 Impact factor: 11.025

5. Improvement of splenomegaly and pancytopenia by enzyme replacement therapy against type 1 Gaucher disease: a report of sibling cases.

Authors: K Tsuboi; S Iida; M Kato; Y Hayami; I Hanamura; K Miura; S Harada; H Komatsu; S Banno; A Wakita; M Nitta; R Ueda
Journal: Int J Hematol Date: 2001-04 Impact factor: 2.490

Hematologically important mutations: Gaucher disease.

1. Glucosidase acid beta gene mutations in Egyptian children with Gaucher disease and relation to disease phenotypes.

2. Rheumatologic aspects of lysosomal storage diseases.

3. Intracellular degradation of fluorescent glycolipids by lysosomal enzymes and their activators.

4. Reciprocal and nonreciprocal recombination at the glucocerebrosidase gene region: implications for complexity in Gaucher disease.

5. Improvement of splenomegaly and pancytopenia by enzyme replacement therapy against type 1 Gaucher disease: a report of sibling cases.

6. A novel genotype c.1228C>G/c.1448C-1498C (L371V/Rec-NciI) in a 3-year-old child with type 1 Gaucher disease.

7. Nine-year experience in Gaucher disease diagnosis at the Spanish reference center Fundación Jiménez Díaz.

8. Review of the safety and efficacy of imiglucerase treatment of Gaucher disease.