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4 Result(s)

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  1. No Access

    Article

    l-2-Hydroxyglutaric aciduria: Two further cases

    P. Divry, C. Jakobs, C. Vianey-Saban… in Journal of Inherited Metabolic Disease (1993)

  2. No Access

    Article

    Mevalonic aciduria and hyper-IgD syndrome: Two sides of the same coin?

    M. Tsimaratos, I. Kone-Paut, P. Divry, N. Philip… in Journal of Inherited Metabolic Disease (2001)

  3. No Access

    Article

    Anakinra is safe and effective in controlling hyperimmunoglobulinaemia D syndrome-associated febrile crisis

    Hyper-IgD and periodic fever syndrome (HIDS) is a hereditary autoinflammatory syndrome, characterized by recurrent inflammatory attacks. Treatment of HIDS is difficult. Recently, the IL-1ra analogue anakinra w...

    M. Cailliez, F. Garaix, C. Rousset-Rouvière… in Journal of Inherited Metabolic Disease (2006)

  4. No Access

    Article

    Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: data from the E-HOD registry

    To explore the clinical presentation, course, treatment and impact of early treatment in patients with remethylation disorders from the European Network and Registry for Homocystinurias and Methylation Defects...

    Martina Huemer, Daria Diodato, Diego Martinelli… in Journal of Inherited Metabolic Disease (2018)