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Mutations affecting the β–β homomeric interaction in propionic acidaemia: An approach to the determination of the β-propionyl-CoA carboxylase functional domains.
Published in:
Journal of Inherited Metabolic Disease, 2000, v. 23, n. 4, p. 300, doi. 10.1023/A:1005617420460
By:
- Muro, S.;
- Pérez, B.;
- Rodríguez-Pombo, P.;
- Desviat, L.;
- Pérez-Cerd´, C.;
- Ugarte, M.
Publication type:
Article
An unusual late-onset case of propionic acidaemia: biochemical investigations, neuroradiological findings and mutation analysis.
Published in:
1998
By:
- Pérez-Cerdá, C.;
- Merinero, B.;
- Martí, M.;
- Cabrera, J. C.;
- Peña, L.;
- García, M. J.;
- Gangoiti, J.;
- Sanz, P.;
- Rodríguez-Pombo, P.;
- Hoenicka, J.;
- Richard, E.;
- Muro, S.;
- Ugarte, M.
Publication type:
journal article
Potential relationship between genotype and clinical outcome in propionic acidaemia patients.
Published in:
European Journal of Human Genetics, 2000, v. 8, n. 3, p. 187
By:
- Pérez-Cerdá, C;
- Merinero, B;
- Rodríguez-Pombo, P;
- Pérez, B;
- Desviat, L R;
- Muro, S;
- Richard, E;
- García, M J;
- Gangoiti, J;
- Sala, P Ruiz;
- Sanz, P;
- Briones, P;
- Ribes, A;
- Martínez-Pardo, M;
- Campistol, J;
- Pérez, M;
- Lama, R;
- Murga, M L;
- Lema-Garrett, T
Publication type:
Article
The molecular landscape of propionic acidemia and methylmalonic aciduria in Latin America.
Published in:
Journal of Inherited Metabolic Disease, 2010, v. 33, p. 307, doi. 10.1007/s10545-010-9116-4
By:
- Pérez, Belén;
- Angaroni, Celia;
- Sánchez-Alcudia, Rocio;
- Merinero, Begoña;
- Pérez-Cerdá, Celia;
- Specola, N.;
- Rodríguez-Pombo, P.;
- Wajner, Moacir;
- Kremer, Raquel;
- Cornejo, Verónica;
- Desviat, Lourdes;
- Ugarte, Magdalena
Publication type:
Article
Creatine transporter deficiency in two adult patients with static encephalopathy.
Published in:
2009
By:
- Sempere, A.;
- Fons, C.;
- Arias, A.;
- Rodríguez-Pombo, P.;
- Colomer, R.;
- Merinero, B.;
- Alcaide, P.;
- Capdevila, A.;
- Ribes, A.;
- Artuch, R.;
- Campistol, J.
Publication type:
Report
Prenatal diagnosis of propionic acidemia.
Published in:
2004
By:
- Pérez-Cerdá, C.;
- Pérez, B.;
- Merinero, B.;
- Desviat, L. R.;
- Pombo, P. Rodríguez;
- Ugarte, M.;
- Pérez-Cerdá, C;
- Pérez, B;
- Rodríguez-Pombo, P
Publication type:
journal article
Readthrough Strategies for Therapeutic Suppression of Nonsense Mutations in Inherited Metabolic Disease.
Published in:
Molecular Syndromology, 2012, v. 3, n. 5, p. 230, doi. 10.1159/000343086
By:
- Pérez, B.;
- Rodríguez-Pombo, P.;
- Ugarte, M.;
- Desviat, L. R.
Publication type:
Article

Found: 7

Mutations affecting the β–β homomeric interaction in propionic acidaemia: An approach to the determination of the β-propionyl-CoA carboxylase functional domains.

An unusual late-onset case of propionic acidaemia: biochemical investigations, neuroradiological findings and mutation analysis.

Potential relationship between genotype and clinical outcome in propionic acidaemia patients.

The molecular landscape of propionic acidemia and methylmalonic aciduria in Latin America.

Creatine transporter deficiency in two adult patients with static encephalopathy.

Prenatal diagnosis of propionic acidemia.

Readthrough Strategies for Therapeutic Suppression of Nonsense Mutations in Inherited Metabolic Disease.