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- W1978311157 abstract "Gaucher disease is the most frequent lysosomal storage disease. It is a progressive chronic disease that can lead to substantial bone and joint damage and hematological cytopenias. This progressive disease severely worsens the patients' quality of life. Over the past 20 years, enzymatic treatment has considerably improved both symptoms and quality of life. Yet, bone and joint damage may be irreversible. This emphasizes the importance of rigorous follow-up so as to begin uninterrupted treatment before lesion onset. The transition from pediatric to adult care is a major concern for chronic patients. This step is often associated with follow-up problems and may lead to disease worsening. We present three cases of patients who were lost to follow-up during the transition phase. For all 3 patients, the disease notably worsened because follow-up was interrupted during this period." @default.
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- W1978311157 date "2011-02-01" @default.
- W1978311157 modified "2023-09-24" @default.
- W1978311157 title "Maladie de Gaucher de type 1 : difficultés pour la transition enfants-adultes" @default.
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- W1978311157 doi "https://doi.org/10.1016/j.arcped.2010.11.013" @default.
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