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    Chapter

    Homozygous Truncating Intragenic Duplication in TUSC3 Responsible for Rare Autosomal Recessive Nonsyndromic Intellectual Disability with No Clinical or Biochemical Metabolic Markers

    Intellectual disability (ID), which affects around 2–3% of the general population, is classically divided into syndromic and nonsyndromic forms, with several modes of inheritance. Nonsyndromic autosomal recess...

    S. El Chehadeh, C. Bonnet, P. Callier, M. Béri, T. Dupré… in JIMD Reports, Volume 20 (2015)

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    Article

    NTBC treatment in tyrosinaemia type I: Long-term outcome in French patients

    We describe a retrospective study of long-term outcome of 46 patients treated and regularly followed in France with 2-(2-nitro-4-trifluoromethylbenzoyl)-1, 3-cyclohexanedione (NTBC) for tyrosinaemia type I. Mo...

    A. Masurel-Paulet, J. Poggi-Bach, M.-O. Rolland… in Journal of Inherited Metabolic Disease (2008)