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Collaboration between academics, small pharmaceutical company and patient organizations in the development of a new formulation of cysteamine in nephropathic cystinosis: A successful story

Archive ouverte | Gaillard, Ségolène | CCSD

International audience. Rare diseases usually concern small and disseminated population. Implementing clinical research with the right design, outcomes measures and the recruitment of patients are challenges. Collab...

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Archive ouverte | Bertholet-Thomas, Aurélia | CCSD

International audience. Abstract Background Hypercalciuria is one of the most frequent metabolic disorders associated with nephrolithiasis and/or nephrocalcinosis possibly leading to chronic kidney disease (CKD) and...

Worldwide view of nephropathic cystinosis: results from a survey from 30 countries

Archive ouverte | Bertholet-Thomas, Aurélia | CCSD

International audience. BACKGROUND:Nephropathic cystinosis is a rare inherited metabolic disorder leading to progressive renal failure and extra-renal comorbidity. The prognosis relies on early adherence to cysteami...

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