Results: 1-10 |
Results: 10

Authors: GREGERSEN N WINTER VS CORYDON MJ CORYDON TJ RINALDO P RIBES A MARTINEZ G BENNETT MJ VIANEYSABAN C BHALA A HALE DE LEHNERT W KMOCH S ROIG M RIUDOR E EIBERG H ANDRESEN BS BROSS P BOLUND LA KOLVRAA S
Citation: N. Gregersen et al., IDENTIFICATION OF 4 NEW MUTATIONS IN THE SHORT-CHAIN ACYL-COA DEHYDROGENASE (SCAD) GENE IN 2 PATIENTS - ONE OF THE VARIANT ALLELES, 511C-]T, IS PRESENT AT AN UNEXPECTEDLY HIGH-FREQUENCY IN THE GENERAL-POPULATION, AS WAS THE CASE FOR 625G-]A, TOGETHER CONFERRING SUSCEPTIBILITY TOETHYLMALONIC ACIDURIA, Human molecular genetics, 7(4), 1998, pp. 619-627

Authors: RIBES A RIUDOR E GARAVAGLIA B MARTINEZ G ARRANZ A INVERNIZZI F BRIONES P LAMANTEA E SENTIS M BARCELO A ROIG M
Citation: A. Ribes et al., MILD OR ABSENT CLINICAL SIGNS IN TWIN SISTERS WITH SHORT-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY, European journal of pediatrics, 157(4), 1998, pp. 317-320

Authors: RIUDOR E
Citation: E. Riudor, NEONATAL ONSET IN FATTY-ACID OXIDATION DISORDERS - HOW CAN WE MINIMIZE MORBIDITY AND MORTALITY, Journal of inherited metabolic disease, 21(6), 1998, pp. 619-623

Authors: RIUDOR E ARRANZ JA ANGUERA R SALCEDO S ROIG M DELTORO M BAHIMA C MARTINEZ G RIBES A VIANEYSABAN C SENTIS M
Citation: E. Riudor et al., NEONATAL MEDIUM-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY PRESENTING WITH VERY HIGH CREATINE-KINASE LEVELS, Journal of inherited metabolic disease, 21(6), 1998, pp. 673-674

Authors: MARTINEZ G RIBES A BRIONES P RODES M BALDELLOU A PINEDA M RODRIGO C LORENTE I GARCIASILVA MT RIUDOR E JARABA P LOPEZCASAS J NUNEZROLDAN A
Citation: G. Martinez et al., MEDIUM-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY IN SPAIN, Journal of inherited metabolic disease, 21(6), 1998, pp. 693-694

Authors: MARTINEZ G JIMENEZSANCHEZ G DIVRY P VIANEYSABAN C RIUDOR E RODES M BRIONES P RIBES A
Citation: G. Martinez et al., PLASMA-FREE FATTY-ACIDS IN MITOCHONDRIAL FATTY-ACID OXIDATION DEFECTS, Clinica chimica acta, 267(2), 1997, pp. 143-154

Authors: PONS R ROIG M RIUDOR E RIBES A BRIONES P ORTIGOSA L BALDELLOU A GILGIBERNAU J OLESTI M NAVARRO C WANDERS RJA
Citation: R. Pons et al., THE CLINICAL SPECTRUM OF LONG-CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE-DEFICIENCY, Pediatric neurology, 14(3), 1996, pp. 236-243

Authors: RIUDOR E RIBES A PEREZCERDA C ARRANZ JA MORA J YESTE D CASTELLO F CHRISTENSEN B SOVIK O
Citation: E. Riudor et al., METABOLIC COMA WITH KETOACIDOSIS AND HYPERGLYCEMIA IN 2-METHYLACETOACETYL-COA THIOLASE DEFICIENCY, Journal of inherited metabolic disease, 18(6), 1995, pp. 748-749

Authors: ROIG M CALOPA M ROVIRA A MACAYA A RIUDOR E LOSADA M
Citation: M. Roig et al., BILATERAL STRIATAL LESIONS IN CHILDHOOD, Pediatric neurology, 9(5), 1993, pp. 349-358

Authors: RIBES A RIUDOR E VALCAREL R SALVA A CASTELLO F MURILLO S DOMINGUEZ C ROTIG A JAKOBS C
Citation: A. Ribes et al., PEARSON SYNDROME - ALTERED TRICARBOXYLIC-ACID AND UREA-CYCLE METABOLITES, ADRENAL INSUFFICIENCY AND CORNEAL OPACITIES, Journal of inherited metabolic disease, 16(3), 1993, pp. 537-540
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