Näytetään 1 - 3 yhteensä 3 tuloksesta haulle 'Claire Guibet', hakuaika: 0,02s Tarkenna hakua
  1. 1
    Case report: Unveiling genetic and phenotypic variability in Nonketotic hyperglycinemia: an atypical early onset case associated with a novel GLRX5 variant

    Case report: Unveiling genetic and phenotypic variability in Nonketotic hyperglycinemia: an atypical early onset case associated with a novel GLRX5 variant Tekijä Victor Marin, Louis Lebreton, Claire Guibet, Claire Guibet, Samir Mesli, Isabelle Redonnet-Vernhet, Mathurin Dexant, Delphine Lamireau, Sandrine Roche, Margaux Gaschignard, Jean Delmas, Henri Margot, Claire Bar

    Julkaistu 2024-09-01
    Hae kokoteksti
    Artikkeli
  2. 2
    Case report: Two siblings with very late onset of holocarboxylase synthase deficiency and a mini-review

    Case report: Two siblings with very late onset of holocarboxylase synthase deficiency and a mini-review Tekijä Margaux Gaschignard, Louis Domenach, Delphine Lamireau, Claire Guibet, Sandrine Roche, Emmanuel Richard, Isabelle Redonnet-Vernhet, Isabelle Redonnet-Vernhet, Samir Mesli, Louis Lebreton

    Julkaistu 2024-09-01
    Hae kokoteksti
    Artikkeli
  3. 3
    Preventing hyperhomocysteinemia using vitamin B6 supplementation in Givosiran-treated acute intermittent porphyria: Highlights from a case report and brief literature review

    Preventing hyperhomocysteinemia using vitamin B6 supplementation in Givosiran-treated acute intermittent porphyria: Highlights from a case report and brief literature review Tekijä Isabelle Redonnet-Vernhet, Patrick Mercié, Louis Lebreton, Jean-Marc Blouin, Didier Bronnimann, Samir Mesli, Claire Guibet, Emmanuel Ribeiro, Noémie Gensous, Pierre Duffau, Laurent Gouya, Emmanuel Richard

    Julkaistu 2024-06-01
    Hae kokoteksti
    Artikkeli

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