Found: 4

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  • Galactose epimerase deficiency: lessons from the GalNet registry.

    Published in:
    2022
    By:
    • Derks, Britt;
    • Demirbas, Didem;
    • Arantes, Rodrigo R.;
    • Banford, Samantha;
    • Burlina, Alberto B.;
    • Cabrera, Analía;
    • Chiesa, Ana;
    • Couce, M. Luz;
    • Dionisi-Vici, Carlo;
    • Gautschi, Matthias;
    • Grünewald, Stephanie;
    • Morava, Eva;
    • Möslinger, Dorothea;
    • Scholl-Bürgi, Sabine;
    • Skouma, Anastasia;
    • Stepien, Karolina M.;
    • Timson, David J.;
    • Berry, Gerard T.;
    • Rubio-Gozalbo, M. Estela
    Publication type:
    journal article

  • Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene.

    Published in:
    Journal of Inherited Metabolic Disease, 2021, v. 44, n. 2, p. 401, doi. 10.1002/jimd.12288
    By:
    • Marti‐Sanchez, Laura;
    • Baide‐Mairena, Heidy;
    • Marcé‐Grau, Anna;
    • Pons, Roser;
    • Skouma, Anastasia;
    • López‐Laso, Eduardo;
    • Sigatullina, Maria;
    • Rizzo, Cristiano;
    • Semeraro, Michela;
    • Martinelli, Diego;
    • Carrozzo, Rosalba;
    • Dionisi‐Vici, Carlo;
    • González‐Gutiérrez‐Solana, Luis;
    • Correa‐Vela, Marta;
    • Ortigoza‐Escobar, Juan Dario;
    • Sánchez‐Montañez, Ángel;
    • Vazquez, Élida;
    • Delgado, Ignacio;
    • Aguilera‐Albesa, Sergio;
    • Yoldi, María Eugenia
    Publication type:
    Article

  • Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision.

    Published in:
    Journal of Inherited Metabolic Disease, 2019, v. 42, n. 6, p. 1192, doi. 10.1002/jimd.12100
    By:
    • Häberle, Johannes;
    • Burlina, Alberto;
    • Chakrapani, Anupam;
    • Dixon, Marjorie;
    • Karall, Daniela;
    • Lindner, Martin;
    • Mandel, Hanna;
    • Martinelli, Diego;
    • Pintos‐Morell, Guillem;
    • Santer, René;
    • Skouma, Anastasia;
    • Servais, Aude;
    • Tal, Galit;
    • Rubio, Vicente;
    • Huemer, Martina;
    • Dionisi‐Vici, Carlo
    Publication type:
    Article

  • Optimizing the Molecular Diagnosis of GALNS: Novel Methods to Define and Characterize Morquio-A Syndrome-Associated Mutations.

    Published in:
    Human Mutation, 2015, v. 36, n. 3, p. 357, doi. 10.1002/humu.22751
    By:
    • Caciotti, Anna;
    • Tonin, Rodolfo;
    • Rigoldi, Miriam;
    • Ferri, Lorenzo;
    • Catarzi, Serena;
    • Cavicchi, Catia;
    • Procopio, Elena;
    • Donati, Maria Alice;
    • Ficcadenti, Anna;
    • Fiumara, Agata;
    • Barone, Rita;
    • Garavelli, Livia;
    • Rocco, Maja Di;
    • Filocamo, Mirella;
    • Antuzzi, Daniela;
    • Scarpa, Maurizio;
    • Mooney, Sean D.;
    • Li, Biao;
    • Skouma, Anastasia;
    • Bianca, Sebastiano
    Publication type:
    Article