PMID: 16644399Apr 29, 2006Paper

Phenotype variations in Gaucher disease

La Revue de médecine interne
Pramod K Mistry, D P Germain

Abstract

The Gaucher phenotype is very complex and it cannot be simply evaluated on the basis of blood counts or splenomegaly, but by the analysis of all disease compartments. To establish the diagnosis of Gaucher disease, biochemical assay of glucocerebrosidase activity is the most reliable method. However, it can be supplemented by molecular diagnosis, which may be helpful to predict the severity and the rate of progression of clinical manifestations. The genotype-phenotype correlations are very complex with a high inter-individual variability in the severity of clinical manifestations within a same genotype. Genetic modifiers may play an important role in determining the eventual Gaucher phenotype. Despite of some devastating complications, which can arise with advancing age, Gaucher disease worsen progressively in the majority of patients homozygous for the N370S mutation. The analysis of the data of the International Collaborative Gaucher Group registry should provide a better understanding of the natural history of the Gaucher disease.

References

Sep 25, 1998·The Journal of Biological Chemistry·R G BootJ M Aerts
Feb 6, 2004·Blood Cells, Molecules & Diseases·Ariel BrautbarAri Zimran

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Citations

Jun 20, 2008·AJR. American Journal of Roentgenology·Robert F DeMayoPramod K Mistry
Nov 1, 2011·Invertebrate Neuroscience : in·Samantha HindleSean T Sweeney
Jan 8, 2008·Pathologie-biologie·A DandanaA Miled
Nov 17, 2010·American Journal of Hematology·Pramod K MistryGero Massenkeil
Jul 28, 2007·British Journal of Haematology·Derralynn HughesCarla Hollak
Jun 15, 2007·Molecular Genetics and Metabolism·Saadet Mercimek-MahmutogluSylvia Stoeckler-Ipsiroglu
Jun 13, 2015·Journal of Immunology Research·Juan Marcos Mucci, Paula Rozenfeld
Nov 18, 2018·Expert Review of Clinical Pharmacology·Punita Gupta, Gregory Pastores
Nov 22, 2013·The Annals of Pharmacotherapy·Lunawati L Bennett, Devipriya Mohan
Feb 25, 2011·Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis·Eman M SherifEman A R Ismail

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