Literature DB >> 7500895

Gaucher disease.

D Balicki1, E Beutler.   

Abstract

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Year:  1995        PMID： 7500895     DOI： 10.1097/00005792-199511000-00002

Source DB:  PubMed          Journal:  Medicine (Baltimore)        ISSN： 0025-7974            Impact factor:   1.889


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  12 in total

1.  Mutation prevalence among 47 unrelated Japanese patients with Gaucher disease: identification of four novel mutations.

Authors:  H Ida; O M Rennert; H Kawame; K Maekawa; Y Eto
Journal:  J Inherit Metab Dis       Date:  1997-03       Impact factor: 4.982

2.  Mice with type 2 and 3 Gaucher disease point mutations generated by a single insertion mutagenesis procedure.

Authors:  Y Liu; K Suzuki; J D Reed; A Grinberg; H Westphal; A Hoffmann; T Döring; K Sandhoff; R L Proia
Journal:  Proc Natl Acad Sci U S A       Date:  1998-03-03       Impact factor: 11.205

3.  The impact of Gaucher disease and its treatment on quality of life.

Authors:  R P Hayes; K A Grinzaid; E B Duffey; L J Elsas
Journal:  Qual Life Res       Date:  1998-08       Impact factor: 4.147

Review 4.  Hematopoietic stem cell transplantation for Gaucher disease.

Authors:  Usha R Somaraju; Krishna Tadepalli
Journal:  Cochrane Database Syst Rev       Date:  2017-10-18

5.  Severe skeletal complications in Japanese patients with type 1 Gaucher disease.

Authors:  H Ida; O M Rennert; S Kato; T Ueda; K Oishi; K Maekawa; Y Eto
Journal:  J Inherit Metab Dis       Date:  1999-02       Impact factor: 4.982

6.  Cauda equina syndrome due to an intra-dural sacral cyst in type-1 Gaucher disease.

Authors:  Abderrahmane Hamlat; Stephan Saikali; Mohamed Lakehal; Michèle Pommereuil; Xavier Morandi
Journal:  Eur Spine J       Date:  2003-12-20       Impact factor: 3.134

7.  Clinical and genetic characteristics of Gaucher disease according to phenotypic subgroups.

Authors:  Ju-Young Lee; Beom Hee Lee; Gu-Hwan Kim; Chang-Woo Jung; Jin Lee; Jin-Ho Choi; Han-Wook Yoo
Journal:  Korean J Pediatr       Date:  2012-02-14

8.  A phase 2 multi-center, open-label, switch-over trial to evaluate the safety and efficacy of Abcertin® in patients with type 1 Gaucher disease.

Authors:  Jin-Ho Choi; Beom Hee Lee; Jung Min Ko; Young Bae Sohn; Jin-Sung Lee; Gu-Hwan Kim; Sun Hee Heo; June-Young Park; Yoo-Mi Kim; Ja-Hye Kim; Han-Wook Yoo
Journal:  J Korean Med Sci       Date:  2015-03-19       Impact factor: 2.153

Review 9.  Enzyme replacement in Gaucher disease.

Authors:  Ernest Beutler
Journal:  PLoS Med       Date:  2004-11-30       Impact factor: 11.069

10.  Strong association between glucocerebrosidase mutations and Parkinson's disease in Sweden.

Authors:  Caroline Ran; Lovisa Brodin; Lars Forsgren; Marie Westerlund; Mehrafarin Ramezani; Sandra Gellhaar; Fengqing Xiang; Camilla Fardell; Hans Nissbrandt; Peter Söderkvist; Andreas Puschmann; Emil Ygland; Lars Olson; Thomas Willows; Anders Johansson; Olof Sydow; Karin Wirdefeldt; Dagmar Galter; Per Svenningsson; Andrea Carmine Belin
Journal:  Neurobiol Aging       Date:  2016-05-03       Impact factor: 4.673
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