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The natural course of Gaucher disease in The Netherlands: Implications for monitoring of disease manifestations
Author(s) -
MaaswinkelMooij P.,
Hollak C.,
Van EysdenPlaisier M.,
Prins M.,
Aerts H.,
Pöll R.
Publication year - 2000
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1023/a:1005655031239
Subject(s) - disease , medicine , enzyme replacement therapy , pediatrics , natural history , retrospective cohort study , gaucher's disease
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.