Found: 6

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  • Slow segregation and rapid shift to homoplasmy coexist in a family with the T8993>G mutation.

    Published in:
    Journal of Inherited Metabolic Disease, 1999, v. 22, n. 8, p. 939, doi. 10.1023/A:1005603926730
    By:
    • Martín, M.;
    • Campos, Y.;
    • García-Silva, M.;
    • Rubio, J.;
    • Del Hoyo, P.;
    • de Bustos, F.;
    • García, A.;
    • Arenas, J.
    Publication type:
    Article

  • Medium-chain acyl-CoA dehydrogenase deficiency in Spain.

    Published in:
    Journal of Inherited Metabolic Disease, 1998, v. 21, n. 6, p. 693, doi. 10.1023/A:1005461407231
    By:
    • Martínez, G.;
    • Ribes, A.;
    • Briones, P.;
    • Rodés, M.;
    • Baldellou, A.;
    • Pineda, M.;
    • Rodrigo, C.;
    • Lorente, I.;
    • García-Silva, M.;
    • Riudor, E.;
    • Jaraba, P.;
    • Lopez-Casas, J.;
    • Nuñez-Roldan, A.
    Publication type:
    Article

  • Clinical and molecular diagnosis of non‐phosphomannomutase 2 N‐linked congenital disorders of glycosylation in Spain.

    Published in:
    Clinical Genetics, 2019, v. 95, n. 5, p. 615, doi. 10.1111/cge.13508
    By:
    • Medrano, Celia;
    • Vega, Ana;
    • Navarrete, Rosa;
    • Ecay, M. Jesús;
    • Calvo, Rocío;
    • Pascual, Samuel Ignacio;
    • Ruiz‐Pons, Mónica;
    • Toledo, Laura;
    • García‐Jiménez, Inmaculada;
    • Arroyo, Ignacio;
    • Campo, Andrea;
    • Couce, M. Luz;
    • Domingo‐Jiménez, M. Rosario;
    • García‐Silva, M. Teresa;
    • González‐Gutiérrez‐Solana, Luis;
    • Hierro, Loreto;
    • Martín‐Hernández, Elena;
    • Martínez‐Pardo, Mercedes;
    • Roldán, Susana;
    • Tomás, Miguel
    Publication type:
    Article

  • PDH Eβ deficiency with novel mutations in two patients with Leigh syndrome.

    Published in:
    Journal of Inherited Metabolic Disease, 2009, v. 32, p. 339, doi. 10.1007/s10545-009-1343-1
    By:
    • Quintana, E.;
    • Mayr, J.;
    • García Silva, M.;
    • Font, A.;
    • Tortoledo, M.;
    • Moliner, S.;
    • Ozaez, L.;
    • Lluch, M.;
    • Cabello, A.;
    • Ricoy, J.;
    • Koch, J.;
    • Ribes, A.;
    • Sperl, W.;
    • Briones, P.
    Publication type:
    Article

  • Congenital disorder of glycosylation (CDG) type Ie. A new patient.

    Published in:
    Journal of Inherited Metabolic Disease, 2004, v. 27, n. 5, p. 591, doi. 10.1023/B:BOLI.0000042984.42433.d8
    By:
    • García-Silva, M.;
    • Matthijs, G.;
    • Schollen, E.;
    • Cabrera, J.;
    • del Pozo, J.;
    • Herreros, M.;
    • Simón, R.;
    • Maties, M.;
    • Hernández, E.;
    • Hennet, T.;
    • Briones, P.
    Publication type:
    Article

  • Renal pathology in children with mitochondrial diseases.

    Published in:
    Pediatric Nephrology, 2005, v. 20, n. 9, p. 1299, doi. 10.1007/s00467-005-1948-z
    By:
    • Martín-Hernández, Elena;
    • García-Silva, M. Teresa;
    • Vara, Julia;
    • Campos, Yolanda;
    • Cabello, Ana;
    • Muley, Rafael;
    • del Hoyo, Pilar;
    • Martín, Miguel Angel;
    • Arenas, Joaquín
    Publication type:
    Article