Literature DB >> 10682310

The natural course of Gaucher disease in The Netherlands: implications for monitoring of disease manifestations.

P Maaswinkel-Mooij1, C Hollak, M van Eysden-Plaisier, M Prins, H Aerts, R Pöll.   

Abstract

This retrospective study in 20 untreated type I Gaucher disease patients shows that in Dutch patients clinical manifestations of Gaucher disease type I are progressive in the majority of patients, children as well as adults. This is in contrast with studies among Jewish patients. Our results emphasize the need for a regular follow-up to enable timely initiation of enzyme therapy.

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Year:  2000        PMID： 10682310     DOI： 10.1023/a:1005655031239

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


  6 in total

1.  Glucocerebrosidase genotype of Gaucher patients in The Netherlands: limitations in prognostic value.

Authors:  R G Boot; C E Hollak; M Verhoek; P Sloof; B J Poorthuis; W J Kleijer; R A Wevers; M H van Oers; M M Mannens; J M Aerts; S van Weely
Journal:  Hum Mutat       Date:  1997       Impact factor: 4.878

2.  Individualised low-dose alglucerase therapy for type 1 Gaucher's disease.

Authors:  C E Hollak; J M Aerts; R Goudsmit; S S Phoa; M Ek; S van Weely; A E von dem Borne; M H van Oers
Journal:  Lancet       Date:  1995-06-10       Impact factor: 79.321

3.  Type 1 Gaucher disease: phenotypic expression and natural history in Japanese patients.

Authors:  H Ida; O M Rennert; T Ito; K Maekawa; Y Eto
Journal:  Blood Cells Mol Dis       Date:  1998-03       Impact factor: 3.039

4.  The clinical course of treated and untreated Gaucher disease. A study of 45 patients.

Authors:  E Beutler; A Demina; K Laubscher; P Garver; T Gelbart; D Balicki; L Vaughan
Journal:  Blood Cells Mol Dis       Date:  1995       Impact factor: 3.039

5.  Gaucher disease. Clinical, laboratory, radiologic, and genetic features of 53 patients.

Authors:  A Zimran; A Kay; T Gelbart; P Garver; D Thurston; A Saven; E Beutler
Journal:  Medicine (Baltimore)       Date:  1992-11       Impact factor: 1.889

6.  Therapeutic response to intravenous infusions of glucocerebrosidase in a patient with Gaucher disease.

Authors:  N W Barton; F S Furbish; G J Murray; M Garfield; R O Brady
Journal:  Proc Natl Acad Sci U S A       Date:  1990-03       Impact factor: 11.205
  6 in total
  8 in total

Review 1.  Gaucher disease.

Authors:  Aabha Nagral
Journal:  J Clin Exp Hepatol       Date:  2014-04-21

2.  Intra-monocyte Pharmacokinetics of Imiglucerase Supports a Possible Personalized Management of Gaucher Disease Type 1.

Authors:  Juliette Berger; Marie Vigan; Bruno Pereira; Thu Thuy Nguyen; Roseline Froissart; Nadia Belmatoug; Florence Dalbiès; Agathe Masseau; Christian Rose; Christine Serratrice; Yves-Marie Pers; Ivan Bertchansky; Fabrice Camou; Monia Bengherbia; Céline Bourgne; Catherine Caillaud; Magali Pettazzoni; Amina Berrahal; Jérôme Stirnemann; France Mentré; Marc G Berger
Journal:  Clin Pharmacokinet       Date:  2019-04       Impact factor: 6.447

Review 3.  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

Review 4.  Management of non-neuronopathic Gaucher disease with special reference to pregnancy, splenectomy, bisphosphonate therapy, use of biomarkers and bone disease monitoring.

Authors:  T M Cox; J M F G Aerts; N Belmatoug; M D Cappellini; S vom Dahl; J Goldblatt; G A Grabowski; C E M Hollak; P Hwu; M Maas; A M Martins; P K Mistry; G M Pastores; A Tylki-Szymanska; J Yee; N Weinreb
Journal:  J Inherit Metab Dis       Date:  2008-05-23       Impact factor: 4.982

5.  Transformation in pretreatment manifestations of Gaucher disease type 1 during two decades of alglucerase/imiglucerase enzyme replacement therapy in the International Collaborative Gaucher Group (ICGG) Gaucher Registry.

Authors:  Pramod K Mistry; Julie L Batista; Hans C Andersson; Manisha Balwani; Thomas Andrew Burrow; Joel Charrow; Paige Kaplan; Aneal Khan; Priya S Kishnani; Edwin H Kolodny; Barry Rosenbloom; C Ronald Scott; Neal Weinreb
Journal:  Am J Hematol       Date:  2017-07-07       Impact factor: 10.047

Review 6.  Ethical issues in managing Lysosomal storage disorders in children in low and middle income countries.

Authors:  Bushra Afroze; Nick Brown
Journal:  Pak J Med Sci       Date:  2017 Jul-Aug       Impact factor: 1.088

7.  Timing of initiation of enzyme replacement therapy after diagnosis of type 1 Gaucher disease: effect on incidence of avascular necrosis.

Authors:  Pramod K Mistry; Patrick Deegan; Ashok Vellodi; J Alexander Cole; Michael Yeh; Neal J Weinreb
Journal:  Br J Haematol       Date:  2009-09-03       Impact factor: 6.998

8.  Recommendations for the management of the haematological and onco-haematological aspects of Gaucher disease.

Authors:  Derralynn Hughes; Maria Domenica Cappellini; Marc Berger; Jan Van Droogenbroeck; Maaike de Fost; Dragana Janic; Theodore Marinakis; Hanna Rosenbaum; Jesús Villarubia; Elena Zhukovskaya; Carla Hollak
Journal:  Br J Haematol       Date:  2007-07-26       Impact factor: 6.998
  8 in total

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