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- W2000784331 abstract "Fabry disease is an X-linked recessive lysosomal storage disorder caused by α-galactosidase A deficiency. Although the disease presents in childhood, diagnosis is often delayed to adulthood or missed, presumably due to the lack of specificity of the symptoms and to the absence of major complication during the paediatric years. We report a 9-year-old boy known to have a Fabry disease who presented an episode of priapism. Successful treatment was achieved by repeated corporeal aspiration under general anaesthesia. This case is the fifth report of priapism in children with Fabry disease, suggesting that priapism may be a severe vascular complication of the disease during infancy. This report emphasizes the importance of an early diagnosis and treatment of Fabry disease, including enzyme replacement therapy, to prevent major disease-associated morbidity and to optimize patient outcomes." @default.
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- W2000784331 date "2010-12-01" @default.
- W2000784331 modified "2023-10-01" @default.
- W2000784331 title "Le priapisme : une complication pédiatrique grave de la maladie de Fabry" @default.
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- W2000784331 doi "https://doi.org/10.1016/s0248-8663(10)70015-1" @default.
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