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 TitleAuthors / EditorsDate
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Bone fragility in patients affected by congenital diseases non skeletal in origin Masi, L.; Ferrari, Serge Livio; Javaid, M. K.; Papapoulos, S.; ... Brandi, M. L. 2021
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Randomized clinical trials in ANCA-associated vasculitis: a systematic analysis of the WHO - International Clinical Trials Registry Platform Iudici, Michèle; Puéchal, Xavier; Brigante, Alejandro; Atal, Ignacio; Gabay, Cem 2020
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Clouds over IMD? Perspectives for inherited metabolic diseases in adults from a retrospective cohort study in two Swiss adult metabolic clinics Gariani, Karim; Nascimento, Marina; Superti-Furga, Andrea; Tran, Christel 2020
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New insights on congenital pulmonary airways malformations revealed by proteomic analyses Barazzone, Constance; Lascano Maillard, Maria Josefina; Andrieu Vidal, Isabelle; Piallat, Marie-Luce; ... Ruchonnet, Isabelle 2019
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Impact of imiglucerase supply constraint on the therapeutic management and course of disease in French patients with Gaucher disease type 1 Stirnemann, Jérôme; Rose, Christian; De Roux Serratrice, Christine; Dalbies, Florence; ... Belmatoug, Nadia 2015
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Assessment of the impact of phenylketonuria and its treatment on quality of life of patients and parents from seven European countries Bosch, Annet M; Burlina, Alberto; Cunningham, Amy; Bettiol, Esther Odile; ... Regnault, Antoine 2015
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Development and psychometric validation of measures to assess the impact of phenylketonuria and its dietary treatment on patients' and parents' quality of life: the phenylketonuria - quality of life (PKU-QOL) questionnaires Regnault, Antoine; Burlina, Alberto; Cunningham, Amy; Bettiol, Esther Odile; ... Bosch, Annet M 2015
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Modeling changes in biomarkers in Gaucher disease patients receiving enzyme replacement therapy using a pathophysiological model Vigan, Marie; Stirnemann, Jérôme; Caillaud, Catherine; Froissart, Roseline; ... Mentré, France 2014
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Three new cases of late-onset cblC defect and review of the literature illustrating when to consider inborn errors of metabolism beyond infancy Huemer, Martina; Scholl-Bürgi, Sabine; Hadaya, Karine; Kern, Ilse; ... Karall, Daniela 2014
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EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations Eggens, Veerle Rc; Barth, Peter G; Niermeijer, Jikke-Mien F; Berg, Jonathan N; ... Baas, Frank 2014
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Sweet taste loss in myasthenia gravis: more than a coincidence? Chabwine, Joelle N; Tschirren, Muriel V; Zekeridou, Anastasia; Landis, Basile Nicolas; Kuntzer, Thierry 2014
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Natural history of Barth syndrome: a national cohort study of 22 patients Rigaud, Charlotte; Lebre, Anne-Sophie; Touraine, Renaud; Beaupain, Blandine; ... Donadieu, Jean 2013
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The French Gaucher's disease registry: clinical characteristics, complications and treatment of 562 patients Stirnemann, Jérôme; Vigan, Marie; Hamroun, Dalil; Heraoui, Djazia; ... Belmatoug, Nadia 2012
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Biliary atresia Chardot, Christophe 2006