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Reliability of biochemical parameters used in prenatal diagnosis of combined methylmalonic aciduria and homocystinuria.
Published in:
1998
By:
- Merinero, B.;
- Pérez-Cerdá, C.;
- Garcia, M. J.;
- Chadefaux-Vekemans, B.;
- Kamoun, P.;
- Tonetti, C.;
- Zittoun, J.;
- Jakobs, C.;
- Ugarte, M.;
- Pérez-Cerdá, C
Publication type:
journal article
Non-ketotic hyperglycinaemia: glycine/serine ratio in amniotic fluid--an unreliable method for prenatal diagnosis.
Published in:
1989
By:
- Garcia-Muñoz, M. J.;
- Belloque, J.;
- Merinero, B.;
- Pérez-Cerdá, C.;
- Sanz, P.;
- Ugarte, M.;
- Garcia-Muñoz, M J;
- Pérez-Cerdá, C
Publication type:
journal 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
Adolescent myopathic presentation in two sisters with very long-chain acyl-CoA dehydrogenase deficiency.
Published in:
Journal of Inherited Metabolic Disease, 1999, v. 22, n. 7, p. 802, doi. 10.1023/A:1005553907216
By:
- Merinero, B.;
- Pascual Pascual, S.;
- Pérez-Cerdá, C.;
- Gangoiti, J.;
- Castro, M.;
- Garcia, M.;
- Pascual Castroviejo, I.;
- Vianey-Saban, C.;
- Andresen, B.;
- Gregersen, N.;
- 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
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
Tyrosinemia type II: Mutation update, 11 novel mutations and description of 5 independent subjects with a novel founder mutation.
Published in:
Clinical Genetics, 2017, v. 92, n. 3, p. 306, doi. 10.1111/cge.13003
By:
- Peña‐Quintana, L.;
- Scherer, G.;
- Curbelo‐Estévez, M.L.;
- Jiménez‐Acosta, F.;
- Hartmann, B.;
- La Roche, F.;
- Meavilla‐Olivas, S.;
- Pérez‐Cerdá, C.;
- García‐Segarra, N.;
- Giguère, Y.;
- Huppke, P.;
- Mitchell, G.A.;
- Mönch, E.;
- Trump, D.;
- Vianey‐Saban, C.;
- Trimble, E.R.;
- Vitoria‐Miñana, I.;
- Reyes‐Suárez, D.;
- Ramírez‐Lorenzo, T.;
- Tugores, A.
Publication type:
Article
Antisense-mediated therapeutic pseudoexon skipping in TMEM165-CDG.
Published in:
Clinical Genetics, 2015, v. 87, n. 1, p. 42, doi. 10.1111/cge.12402
By:
- Yuste‐Checa, P.;
- Medrano, C.;
- Gámez, A.;
- Desviat, L.R.;
- Matthijs, G.;
- Ugarte, M.;
- Pérez‐Cerdá, C.;
- Pérez, B.
Publication type:
Article
Functional analysis and in vitro correction of splicing FAH mutations causing tyrosinemia type I.
Published in:
Clinical Genetics, 2014, v. 86, n. 2, p. 167, doi. 10.1111/cge.12243
By:
- Pérez‐Carro, R.;
- Sánchez‐Alcudia, R.;
- Pérez, B.;
- Navarrete, R.;
- Pérez‐Cerdá, C.;
- Ugarte, M.;
- Desviat, L.R.
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
Persistent increase of plasma butyryl/isobutyrylcarnitine concentrations as marker of SCAD defect and ethylmalonic encephalopathy.
Published in:
2006
By:
- Merinero, B.;
- Pérez-Cerdá, C.;
- Ruiz Sala, P.;
- Ferrer, I.;
- García, M.;
- Martínez Pardo, M.;
- Belanger-Quintana, A.;
- de la Mota, J.;
- Martin-Hernández, E.;
- Vianey-Saban, C.;
- Bischoff, C.;
- Gregersen, N.;
- Ugarte, M.
Publication type:
Report
Splicing mutations, mainly IVS6-1(G>T), account for 70% of fumarylacetoacetate hydrolase (FAH) gene alterations, including 7 novel mutations, in a survey of 29 tyrosinemia type I patients.
Published in:
Human Mutation, 2002, v. 20, n. 3, p. 180, doi. 10.1002/humu.10084
By:
- Arranz, J.A.;
- Piñol, F.;
- Kozak, L.;
- Pérez-Cerdá, C.;
- Cormand, B.;
- Ugarte, M.;
- Riudor, E.
Publication type:
Article

Found: 12