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Protein misfolding diseases: Prospects of pharmacological treatment.
Published in:
Clinical Genetics, 2018, v. 93, n. 3, p. 450, doi. 10.1111/cge.13088
By:
- Gámez, A.;
- Yuste‐checa, P.;
- Brasil, S.;
- Briso‐montiano, Á.;
- Desviat, L. R.;
- Ugarte, M.;
- Pérez‐cerdá, C.;
- Pérez, B.
Publication type:
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
Genetic and phenotypic aspects of phenylalanine hydroxylase deficiency in Spain: molecular survey by regions.
Published in:
European Journal of Human Genetics, 1999, v. 7, n. 3, p. 386, doi. 10.1038/sj.ejhg.5200312
By:
- Desviat, L R;
- Pérez, B;
- Gámez, A;
- Sánchez, A;
- García, M J;
- Martínez-Pardo, M;
- Marchante, C;
- Bóveda, D;
- Baldellou, A;
- Arena, J;
- Sanjurjo, P;
- Fernández, A;
- Cabello, M L;
- Ugarte, M
Publication type:
Article
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: 5

Protein misfolding diseases: Prospects of pharmacological treatment.

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

Genetic and phenotypic aspects of phenylalanine hydroxylase deficiency in Spain: molecular survey by regions.

Prenatal diagnosis of propionic acidemia.

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