Found: 5

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  • Natural history of Barth syndrome: a national cohort study of 22 patients.

    Published in:
    Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-70
    By:
    • Rigaud, Charlotte;
    • Lebre, Anne-Sophie;
    • Touraine, Renaud;
    • Beaupain, Blandine;
    • Ottolenghi, Chris;
    • Chabli, Allel;
    • Ansquer, Helene;
    • Ozsahin, Hulya;
    • Di Filippo, Sylvie;
    • De Lonlay, Pascale;
    • Borm, Betina;
    • Rivier, Francois;
    • Vaillant, Marie-Catherine;
    • Mathieu-Dramard, Michèle;
    • Goldenberg, Alice;
    • Viot, Géraldine;
    • Charron, Philippe;
    • Rio, Marlene;
    • Bonnet, Damien;
    • Donadieu, Jean
    Publication type:
    Article

  • Natural history of Barth syndrome: a national cohort study of 22 patients.

    Published in:
    2013
    By:
    • Rigaud, Charlotte;
    • Lebre, Anne-Sophie;
    • Touraine, Renaud;
    • Beaupain, Blandine;
    • Ottolenghi, Chris;
    • Chabli, Allel;
    • Ansquer, Helene;
    • Ozsahin, Hulya;
    • Di Filippo, Sylvie;
    • De Lonlay, Pascale;
    • Borm, Betina;
    • Rivier, Francois;
    • Vaillant, Marie-Catherine;
    • Mathieu-Dramard, Michèle;
    • Goldenberg, Alice;
    • Viot, Géraldine;
    • Charron, Philippe;
    • Rio, Marlene;
    • Bonnet, Damien;
    • Donadieu, Jean
    Publication type:
    journal article

  • Screening for primary creatine deficiencies in French patients with unexplained neurological symptoms.

    Published in:
    Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 96, doi. 10.1186/1750-1172-7-96
    By:
    • Cheillan, David;
    • Joncquel-Chevalier Curt, Marie;
    • Briand, Gilbert;
    • Salomons, Gajja S.;
    • Mention-Mulliez, Karine;
    • Dobbelaere, Dries;
    • Cuisset, Jean-Marie;
    • Lion-Fran‡ois, Laurence;
    • Des Portes, Vincent;
    • Chabli, Allel;
    • Valayannopoulos, Vassili;
    • Benoist, Jean-Fran‡ois;
    • Pinard, Jean-Marc;
    • Simard, Gilles;
    • Douay, Olivier;
    • Deiva, Kumaran;
    • Afenjar, Alexandra;
    • H‚ron, Delphine;
    • Rivier, Fran‡ois;
    • Chabrol, Brigitte
    Publication type:
    Article

  • Functional and electrophysiological characterization of four non-truncating mutations responsible for creatine transporter ( SLC6A8) deficiency syndrome.

    Published in:
    Journal of Inherited Metabolic Disease, 2013, v. 36, n. 1, p. 103, doi. 10.1007/s10545-012-9495-9
    By:
    • Valayannopoulos, Vassili;
    • Bakouh, Naziha;
    • Mazzuca, Michel;
    • Nonnenmacher, Luc;
    • Hubert, Laurence;
    • Makaci, Fatna-Léa;
    • Chabli, Allel;
    • Salomons, Gajja;
    • Mellot-Draznieks, Caroline;
    • Brulé, Emilie;
    • Lonlay, Pascale;
    • Toulhoat, Hervé;
    • Munnich, Arnold;
    • Planelles, Gabrielle;
    • Keyzer, Yves
    Publication type:
    Article

  • Treatment by oral creatine, L-arginine and L-glycine in six severely affected patients with creatine transporter defect.

    Published in:
    Journal of Inherited Metabolic Disease, 2012, v. 35, n. 1, p. 151, doi. 10.1007/s10545-011-9358-9
    By:
    • Valayannopoulos, Vassili;
    • Boddaert, Nathalie;
    • Chabli, Allel;
    • Barbier, Valerie;
    • Desguerre, Isabelle;
    • Philippe, Anne;
    • Afenjar, Alexandra;
    • Mazzuca, Michel;
    • Cheillan, David;
    • Munnich, Arnold;
    • Keyzer, Yves;
    • Jakobs, Cornelis;
    • Salomons, Gajja;
    • Lonlay, Pascale
    Publication type:
    Article