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au.\*:("VILASECA, M. A")

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Biochemical monitoring of the treatment in paediatric patients with mitochondrial diseaseARTUCH, R; VILASECA, M. A; PINEDA, M et al.Journal of inherited metabolic disease. 1998, Vol 21, Num 8, pp 837-845, issn 0141-8955Article

Phenylalanine determined in plasma with use of phenylalanine dehydrogenase and a centrifugal analyzerVILASECA, M. A; FARRE, C; RAMON, F et al.Clinical chemistry (Baltimore, Md.). 1993, Vol 39, Num 1, pp 129-131, issn 0009-9147Article

CblE type of homocystinuria: Mild clinical phenotype in two patients homozygous for a novel mutation in the MTRR geneVILASECA, M. A; VILARINHO, L; ZAVADAKOVA, P et al.Journal of inherited metabolic disease. 2003, Vol 26, Num 4, pp 361-369, issn 0141-8955, 9 p.Article

A further prenatal diagnosis of mosaic tetrasomy 12p (Pallister-Killian syndrome)TEJADA, M. I; URIBARREN, A; BRIONES, P et al.Prenatal diagnosis. 1992, Vol 12, Num 6, pp 529-534, issn 0197-3851Article

Fatal hepatic fcailure with lactic acidaemia, Fanconi syndrome and defective activityè of succinate : cytochrome c reductaseVILASECA, M. A; BRIONES, P; RIBES, A et al.Journal of inherited metabolic disease. 1991, Vol 14, Num 3, pp 285-288, issn 0141-8955Article

Ancient origin of the CTH alelle carrying the c.200C > T (p.T67I) variant in patients with cystathioninuriaESPINOS, C; GARCIA-CAZORLA, A; MARTINEZ-RUBIO, D et al.Clinical genetics. 2010, Vol 78, Num 6, pp 554-559, issn 0009-9163, 6 p.Article

Cerebrospinal fluid concentrations of folate, biogenic amines and pterins in rett syndrome : Treatment with folinic acidORMAZABAL, A; ARTUCH, R; VILASECA, M. A et al.Neuropediatrics. 2005, Vol 36, Num 6, pp 380-385, issn 0174-304X, 6 p.Article

Mutational spectrum of phenylalanine hydroxylase deficiency in the population resident in Catalonia: genotype-phenotype correlationMALLOLAS, J; VILASECA, M. A; CAMPISTOL, J et al.Human genetics. 1999, Vol 105, Num 5, pp 468-473, issn 0340-6717Article

A new case of multiple mitochondrial enzyme deficiencies with decreased amount of heat shock protein 60BRIONES, P; VILASECA, M. A; RIBES, A et al.Journal of inherited metabolic disease. 1997, Vol 20, Num 4, pp 569-577, issn 0141-8955Article

Phosphomannomutase deficiency is the main cause of carbohydrate-deficient glycoprotein syndrome with type I isoelectrofocusing pattern of serum sialotransferrinsJAEKEN, J; ARTIGAS, J; PINEDA, M et al.Journal of inherited metabolic disease. 1997, Vol 20, Num 3, pp 447-449, issn 0141-8955Conference Paper

Biochemical follow-up in late-treated nephropathic cystinosisVILASECA, M. A; CAMACHO, J. A; BRIONES, P et al.Journal of inherited metabolic disease. 1995, Vol 18, Num 2, pp 147-150, issn 0141-8955Article

Mutational study in the PDHA1 gene of 40 patients suspected of pyruvate dehydrogenase complex deficiencyQUINTANA, E; GORT, L; BRIONES, P et al.Clinical genetics. 2010, Vol 77, Num 5, pp 474-482, issn 0009-9163, 9 p.Article

Global and regional volume changes in the brains of patients with phenylketonuriaPEREZ-DUENAS, B; PUJOL, J; SORIANO-MAS, C et al.Neurology. 2006, Vol 66, Num 7, pp 1074-1078, issn 0028-3878, 5 p.Article

New approach to osteopenia in phenylketonuric patientsPEREZ-DUENAS, B; CAMBRA, F. J; VILASECA, M. A et al.Acta paediatrica (Oslo). 2002, Vol 91, Num 8, pp 899-904, issn 0803-5253Article

Biochemical and molecular studies in 26 Spanish patients with congenital disorder of glycosylation type IaBRIONES, P; VILASECA, M. A; MATTHIJS, G et al.Journal of inherited metabolic disease. 2002, Vol 25, Num 8, pp 635-646, issn 0141-8955, 12 p.Article

Feasibility of molecular prenatal diagnosis of glutaric aciduria type I in chorionic villiBUSQUETS, C; COLL, M. J; CHRISTENSEN, E et al.Journal of inherited metabolic disease. 1998, Vol 21, Num 3, pp 243-246, issn 0141-8955Article

Missense mutations in codon 225 of ornithine transcarbamylase (OTC) result in decreased amounts of OTC protein : A hypothesis on the molecular mechanism of the OTC deficiencyGARCIA-PEREZ, M. A; CLIMENT, C; BRIONES, P et al.Journal of inherited metabolic disease. 1997, Vol 20, Num 6, pp 769-777, issn 0141-8955Article

Determination of lactate, pyruvate, β-hydroxybutyrate and acetoacetate with a centrifugal analyserARTUCH, R; VILASECA, M. A; FARRE, C et al.European journal of clinical chemistry and clinical biochemistry. 1995, Vol 33, Num 8, pp 529-533, issn 0939-4974Conference Paper

Molecular characterization of five patients with homocystinuria due to severe methylenetetrahydrofolate reductase deficiencyURREIZTI, R; MOYA-GARCIA, A. A; PINEDA, M et al.Clinical genetics. 2010, Vol 78, Num 5, pp 441-448, issn 0009-9163, 8 p.Article

Mutations in the urocanase gene UROC1 are associated with urocanic aciduriaESPINOS, C; PINEDA, M; MARTINEZ-RUBIO, D et al.Journal of medical genetics. 2009, Vol 46, Num 6, pp 407-411, issn 0022-2593, 5 p.Article

Platelet serotonin concentrations in PKU patients under dietary control and tetrahydrobiopterin treatmentORMAZABAL, A; VILASECA, M. A; PEREZ-DUENAS, B et al.Journal of inherited metabolic disease. 2005, Vol 28, Num 6, pp 863-870, issn 0141-8955, 8 p.Article

Two successful pregnancies in pyridoxine-nonresponsive homocystinuriaVILASECA, M. A; CUARTERO, M. L; MARTINEZ DE SALINAS, M et al.Journal of inherited metabolic disease. 2004, Vol 27, Num 6, pp 775-777, issn 0141-8955, 3 p.Article

Homocysteine and the MTHFR 677C→T allele in premature coronary artery disease. Case control and family studies. Editorial commentaryBLOM, H. I; PINTO, X; BALCELLS, S et al.European journal of clinical investigation. 2001, Vol 31, Num 1, pp 6-8, issn 0014-2972, 10 p.Article

Hyperhomocysteinaemia and folate deficiency in human immunodeficiency virus-infected children. CommentaryVILASECA, M. A; SIERRA, C; COLOME, C et al.European journal of clinical investigation. 2001, Vol 31, Num 11, pp 928-930, issn 0014-2972, 10 p.Article

Plasma phenylalanine is associated with decreased serum ubiquinone-10 concentrations in phenylketonuriaARTUCH, R; COLOME, C; VILASECA, M. A et al.Journal of inherited metabolic disease. 2001, Vol 24, Num 3, pp 359-366, issn 0141-8955Article

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