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  1. Article

    Open Access

    French Amyloidosis CAPS study: AA Amyloidosis complicating cryopyrin-associated periodic syndrome: a study on 14 cases and review of 53 cases from literature

    S Georgin-Lavialle, K Stankovic Stojanovic, D Buob, P Quartier… in Pediatric Rheumatology (2015)

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  2. Article

    Open Access

    Mevalonate kinase deficiency (MKD): long-term follow-up of clinical and biological features in 40 patients

    B Florkin, L Cuisset, C Acquaviva-Bourdain, D Rabier, B Neven… in Pediatric Rheumatology (2008)

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  3. No Access

    Article

    First-trimester enzymatic and molecular prenatal diagnosis of mevalonic aciduria

    Prenatal diagnosis was offered to a family at risk of mevalonic aciduria. A chorionic villus sample was obtained and both mevalonate kinase activity and mutation analysis were done. An affected fetus was diagn...

    M. O. Rolland, L. Cuisset, J. Le Bozec, N. Guffon… in Journal of Inherited Metabolic Disease (2005)