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PRENATAL HUMAN BRAIN DEVELOPMENT. II: STUDIES ON MALATE DEHYDROGENASECHABAS A; BRIONES P; SABATER J et al.1980; DEVELOP. NEUROSCI.; CHE; DA. 1980; VOL. 3; NO 1; PP. 19-27; BIBL. 27 REF.Article

PRENATAL DEVELOPMENT OF ISOCITRATE- AND GLUCOSE-6-PHOSPHATE DEHYDROGENASES IN THE HUMAN BRAINCHABAS A; BRIONES P; SABATER J et al.1979; BRAIN RES.; NLD; DA. 1979; VOL. 176; NO 1; PP. 180-184; BIBL. 16 REF.Article

PRENATAL HUMAN BRAIN DEVELOPMENT. I: CATALYTIC AND ELECTROPHORETIC STUDIES ON LACTATE DEHYDROGENASECHABAS A; BRIONES P; SABATER J et al.1979; DEVELOP. NEUROSCI.; CHE; DA. 1979; VOL. 2; NO 2; PP. 65-73; BIBL. 32 REF.Article

Identification and characterization of mutations in patients with holocarboxylase synthetase deficiencyAOKI, Y; XUE LI; NARISAWA, K et al.Human genetics. 1999, Vol 104, Num 2, pp 143-148, issn 0340-6717Article

Morphology of the mitochondria in heat shock protein 60 deficient fibroblasts from mitochondrial myopathy patients : effects of stress conditionsHUCKRIEDE, A; HEIKEMA, A; SJOLLEMA, K et al.Virchows Archiv. 1995, Vol 427, Num 2, pp 159-165, issn 0945-6317Article

Myopthie et leucoencéphalopathie mitochondriales chez des jumeaux de sexe différentPOU SERRADELL, A; COROMINAS, J; VILASECA, M. A et al.Revue neurologique (Paris). 1991, Vol 147, Num 6-7, pp 497-500, issn 0035-3787Conference Paper

Sudden death in an infant with 3-hydroxy-3-methylglutaryl-CoA lyase deficiencyRIBES, A; BRIONES, P; VILASECA, M. A et al.Journal of inherited metabolic disease. 1990, Vol 13, Num 5, pp 752-753, issn 0141-8955, 2 p.Article

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

Experimental design : A useful tool for PCR optimizationBOLEDA, M. D; BRIONES, P; FARRES, J et al.BioTechniques. 1996, Vol 21, Num 1, pp 134-141, issn 0736-6205, 7 p.Article

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

Significance of bound glutarate in the diagnosis of glutaric aciduria type IRIBES, A; RIUDOR, E; BRIONES, P et al.Journal of inherited metabolic disease. 1992, Vol 15, Num 3, pp 367-370, issn 0141-8955Conference Paper

Leigh syndrome due to pyruvate dehydrogenase E1α deficiency (point mutation R263G) in a Spanish boyBRIONES, P; LOPEZ, M. J; DE MEIRLEIR, L et al.Journal of inherited metabolic disease. 1996, Vol 19, Num 6, pp 795-796, issn 0141-8955Article

Clinical and biochemical findings in a Spanish boy with primary carnitine deficiencyBRIONES, P; GARAVAGLIA, B; RIBES, A et al.Journal of inherited metabolic disease. 1995, Vol 18, Num 2, pp 237-240, issn 0141-8955Article

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

Screening for nuclear genetic defects in the ATP synthase-associated genes TMEM70, ATP12 and ATP5E in patients with 3-methylglutaconic aciduriaTORT, F; DEL TORO, M; RIUDOR, E et al.Clinical genetics. 2011, Vol 80, Num 3, pp 297-300, issn 0009-9163, 4 p.Article

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

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

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

Severe neonatal galactose-dependent disease with low-normal epimermase activityBOLEDA, M. D; GIROS, M. L; BRIONES, P et al.Journal of inherited metabolic disease. 1995, Vol 18, Num 1, pp 88-89, issn 0141-8955Article

Mutational spectrum of classical galactosaemia in Spain and PortugalGORT, L; BOLEDA, M. D; TYFIELD, L et al.Journal of inherited metabolic disease. 2006, Vol 29, Num 6, pp 739-742, issn 0141-8955, 4 p.Article

Congenital disorder of glycosylation (CDG) type Ie. A new patientGARCIA-SILVA, M. T; MATTHIJS, G; BRIONES, P et al.Journal of inherited metabolic disease. 2004, Vol 27, Num 5, pp 591-600, issn 0141-8955, 10 p.Article

Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated familiesKLEIJER, W. J; GARRITSEN, V. H; CARDO, E et al.Journal of inherited metabolic disease. 2002, Vol 25, Num 5, pp 399-410, issn 0141-8955, 12 p.Article

Second spontaneous pregnancy in a galactosaemic woman homozygous for the Q188R mutationBRIONES, P; GIROS, M; MARTINEZ, V et al.Journal of inherited metabolic disease. 2001, Vol 24, Num 1, pp 79-80, issn 0141-8955Article

Mild or absent clinical signs in twin sisters with short-chain acyl-CoA dehydrogenase deficiencyRIBES, A; RIUDOR, E; ROIG, M et al.European journal of pediatrics. 1998, Vol 157, Num 4, pp 317-320, issn 0340-6199Article

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