What question did this study set out to answer?

To evaluate the natural disease course and progression of clinical manifestations in untreated type I Gaucher disease patients.

February 1, 2000Journal of Inherited Metabolic Disease

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

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Authors

PMP. D. Maaswinkel‐MooijLeiden University CHCarla E. M. HollakCentre For Development Studies MEM. Van Eysden‐PlaisierLeiden University

Discussion

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Implication

Retrospective study demonstrates progressive clinical manifestations in untreated type I Gaucher disease, highlighting the need for regular monitoring and timely enzyme therapy.

Key Points

To evaluate the natural disease course and progression of clinical manifestations in untreated type I Gaucher disease patients.
Retrospective study conducted in the Netherlands.
Included N=20 untreated pediatric and adult patients diagnosed with type I Gaucher disease.
Clinical manifestations were progressive in the majority of untreated patients across both pediatric and adult age groups.
The observed disease progression contrasted with the disease course documented in Jewish cohorts, demonstrating the necessity of routine monitoring to initiate enzyme therapy promptly.

Cite This Study

Maaswinkel‐Mooij et al. (2000) studied this question.

synapsesocial.com/papers/6a91493173240bb033f072d5 https://doi.org/10.1023/a:1005655031239

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Implication

Retrospective study demonstrates progressive clinical manifestations in untreated type I Gaucher disease, highlighting the need for regular monitoring and timely enzyme therapy.

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

Discussion

Member takes

Implication

Key Points

Cite This Study

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

Discussion

Member takes

Implication

Key Points

Cite This Study

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