檢索結果 - Judit García‐Villoria

  • Showing 1 - 4 results of 4
Refine Results
  1. 1
    Cholestane-3β,5α,6β-triol: high levels in Niemann-Pick type C, cerebrotendinous xanthomatosis, and lysosomal acid lipase deficiency

    Cholestane-3β,5α,6β-triol: high levels in Niemann-Pick type C, cerebrotendinous xanthomatosis, and lysosomal acid lipase deficiency 由 Sonia Pajares, Ángela Arias, Judit García‐Villoria, Judit Macías‐Vidal, Emilio Ros, Javier de las Heras, M. Girós, María Josep Coll, Antònia Ribes

    出版 2015
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  2. 2
    Mutations in the lipoyltransferase<i>LIPT1</i>gene cause a fatal disease associated with a specific lipoylation defect of the 2-ketoacid dehydrogenase complexes

    Mutations in the lipoyltransferase<i>LIPT1</i>gene cause a fatal disease associated with a specific lipoylation defect of the 2-ketoacid dehydrogenase complexes 由 Frederic Tort, Xènia Ferrer-Cortés, Marta Thió, Aleix Navarro‐Sastre, Leslie Matalonga, Ester Quintana, Núria Bujan, Ángela Arias, Judit García‐Villoria, Cécile Acquaviva, Christine Vianey‐Saban, Rafael Artuch, Àngels García‐Cazorla, Paz Briones, Antònia Ribes

    出版 2013
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  3. 3
    Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome

    Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome 由 Juan Darío Ortigoza‐Escobar, Marta Molero‐Luis, Ángela Arias, Alfonso Oyarzábal, Niklas Darín, Mercedes Serrano, Àngels García‐Cazorla, Mireia Tondo, María Isabel Hernández, Judit García‐Villoria, Mercedes Casado, Laura Gort, Johannes A. Mayr, Pilar Rodríguez‐Pombo, Antònia Ribes, Rafael Artuch, Belén Pérez‐Dueñas

    出版 2015
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:
  4. 4
    First Universal Newborn Screening Program for Severe Combined Immunodeficiency in Europe. Two-Years' Experience in Catalonia (Spain)

    First Universal Newborn Screening Program for Severe Combined Immunodeficiency in Europe. Two-Years' Experience in Catalonia (Spain) 由 Ana Argudo‐Ramírez, Andrea Martín-Nalda, José Luís Marín-Soria, Rosa María López-Galera, Sonia Pajares-García, José Manuel González de Aledo‐Castillo, Mónica Martínez‐Gallo, Marina García-Prat, Roger Colobrán, Jacques G. Rivière, Yania Quintero, Tatiana Collado, Judit García‐Villoria, Antònia Ribes, Pere Soler‐Palacín

    出版 2019
    獲取全文 獲取全文
    Artigo
    加到收藏夾
    Saved in:

檢索工具: