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Works matching AU García-Silva, M.

Results: 6

1

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

2

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

3

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

4

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

5

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

6

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