Literature DB >> 9497858

Plasma and metabolic abnormalities in Gaucher's disease.

J M Aerts1, C E Hollak.   

Abstract

An overview of the most important plasma abnormalities that can be found in Gaucher's disease is presented in this chapter. Attention is focussed on their practical applications and possible clinical relevance. In addition, the result of studies on metabolic alterations in Gaucher's disease are reviewed.

Entities:  

Mesh：

Year:  1997        PMID： 9497858     DOI： 10.1016/s0950-3536(97)80034-0

Source DB:  PubMed          Journal:  Baillieres Clin Haematol        ISSN： 0950-3536


  32 in total

Review 1.  Inhibition of substrate synthesis as a strategy for glycolipid lysosomal storage disease therapy.

Authors:  F M Platt; M Jeyakumar; U Andersson; D A Priestman; R A Dwek; T D Butters; T M Cox; R H Lachmann; C Hollak; J M Aerts; S Van Weely; M Hrebícek; C Moyses; I Gow; D Elstein; A Zimran
Journal:  J Inherit Metab Dis       Date:  2001-04       Impact factor: 4.982

Review 2.  Clinically relevant therapeutic endpoints in type I Gaucher disease.

Authors:  C E Hollak; M Maas; J M Aerts
Journal:  J Inherit Metab Dis       Date:  2001       Impact factor: 4.982

3.  Role of chitotriosidase (chitinase 1) under normal and disease conditions.

Authors:  Manasa Kanneganti; Alan Kamba; Emiko Mizoguchi
Journal:  J Epithel Biol Pharmacol       Date:  2012

4.  Elevated plasma glucosylsphingosine in Gaucher disease: relation to phenotype, storage cell markers, and therapeutic response.

Authors:  Nick Dekker; Laura van Dussen; Carla E M Hollak; Herman Overkleeft; Saskia Scheij; Karen Ghauharali; Mariëlle J van Breemen; Maria J Ferraz; Johanna E M Groener; Mario Maas; Frits A Wijburg; Dave Speijer; Anna Tylki-Szymanska; Pramod K Mistry; Rolf G Boot; Johannes M Aerts
Journal:  Blood       Date:  2011-08-25       Impact factor: 22.113

5.  Chitotriosidase gene expression in Kupffer cells from patients with non-alcoholic fatty liver disease.

Authors:  L Malaguarnera; M Di Rosa; A M Zambito; N dell'Ombra; F Nicoletti; M Malaguarnera
Journal:  Gut       Date:  2006-07-06       Impact factor: 23.059

6.  Bone events and evolution of biologic markers in Gaucher disease before and during treatment.

Authors:  Jérôme Stirnemann; Nadia Belmatoug; Corine Vincent; Olivier Fain; Bruno Fantin; France Mentré
Journal:  Arthritis Res Ther       Date:  2010-08-09       Impact factor: 5.156

Review 7.  Paediatric non-neuronopathic Gaucher disease: recommendations for treatment and monitoring.

Authors:  Antonio Baldellou; Generoso Andria; Pauline E Campbell; Joel Charrow; Ian J Cohen; Gregory A Grabowski; Chris M Harris; Paige Kaplan; Kieran McHugh; Eugen Mengel; Ashok Vellodi
Journal:  Eur J Pediatr       Date:  2003-12-16       Impact factor: 3.183

8.  Chitotriosidase is the primary active chitinase in the human lung and is modulated by genotype and smoking habit.

Authors:  Max A Seibold; Samantha Donnelly; Margaret Solon; Anh Innes; Prescott G Woodruff; Rolf G Boot; Esteban González Burchard; John V Fahy
Journal:  J Allergy Clin Immunol       Date:  2008-10-09       Impact factor: 10.793

Review 9.  The role of the iminosugar N-butyldeoxynojirimycin (miglustat) in the management of type I (non-neuronopathic) Gaucher disease: a position statement.

Authors:  T M Cox; J M F G Aerts; G Andria; M Beck; N Belmatoug; B Bembi; R Chertkoff; S Vom Dahl; D Elstein; A Erikson; M Giralt; R Heitner; C Hollak; M Hrebicek; S Lewis; A Mehta; G M Pastores; A Rolfs; M C Sa Miranda; A Zimran
Journal:  J Inherit Metab Dis       Date:  2003       Impact factor: 4.982

10.  Abnormal nonstoring capillary endothelium: a novel feature of Gaucher disease. Ultrastructural study of dermal capillaries.

Authors:  Helena Hůlková; Helena Poupetová; Klaus Harzer; Pramod Mistry; Johannes M F G Aerts; Milan Elleder
Journal:  J Inherit Metab Dis       Date:  2010-01-05       Impact factor: 4.982
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