Results: 1-25 | 26-32
Results: 1-25/32
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
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
CHEMICAL CHARACTERIZATION OF MUNICIPAL SOLID-WASTE INCINERATION RESIDUE - DISSOLUTION OF ELEMENTS WITH A MICROWAVE-DILUTE ACIDS DIGESTION TECHNIQUE COMPARED TO CONVENTIONAL METHODS
Authors: DUGENEST S OLLE M RIBES A GRENIERLOUSTALOT MF
Citation: S. Dugenest et al., CHEMICAL CHARACTERIZATION OF MUNICIPAL SOLID-WASTE INCINERATION RESIDUE - DISSOLUTION OF ELEMENTS WITH A MICROWAVE-DILUTE ACIDS DIGESTION TECHNIQUE COMPARED TO CONVENTIONAL METHODS, Analusis (Imprime), 26(7), 1998, pp. 256-260
MILD OR ABSENT CLINICAL SIGNS IN TWIN SISTERS WITH SHORT-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY
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
NEONATAL MEDIUM-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY PRESENTING WITH VERY HIGH CREATINE-KINASE LEVELS
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
MEDIUM-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY IN SPAIN
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
FEASIBILITY OF MOLECULAR PRENATAL-DIAGNOSIS OF GLUTARIC ACIDURIA TYPE-I IN CHORIONIC VILLI
Authors: BUSQUETS C COLL MJ CHRISTENSEN E CAMPISTOL J CLUSELLAS N VILASECA MA RIBES A
Citation: C. Busquets et al., FEASIBILITY OF MOLECULAR PRENATAL-DIAGNOSIS OF GLUTARIC ACIDURIA TYPE-I IN CHORIONIC VILLI, Journal of inherited metabolic disease, 21(3), 1998, pp. 243-246
INCREASED URINE METHYLMALONIC ACID EXCRETION IN INFANTS WITH APNEAS
Authors: ARTUCH R CALVO M RIBES A CAMARASA F VILASECA MA
Citation: R. Artuch et al., INCREASED URINE METHYLMALONIC ACID EXCRETION IN INFANTS WITH APNEAS, Journal of inherited metabolic disease, 21(1), 1998, pp. 86-87
HIGH-RISK OF MEDIUM-CHAIN ACYL-COENZYME-A DEHYDROGENASE-DEFICIENCY AMONG GYPSIES
Authors: MARTINEZ G GARCIALOZANO JR RIBES A MALDONADO MD BALDELLOU A DEPABLO R NUNEZROLDAN A
Citation: G. Martinez et al., HIGH-RISK OF MEDIUM-CHAIN ACYL-COENZYME-A DEHYDROGENASE-DEFICIENCY AMONG GYPSIES, Pediatric research, 44(1), 1998, pp. 83-84
HEREDITARY NONSPHEROCYTIC HEMOLYTIC-ANEMIA DUE TO RED-BLOOD-CELL GLUTATHIONE SYNTHETASE DEFICIENCY - CLINICAL AND BIOLOGICAL FINDINGS IN 4 UNRELATED SPANISH PATIENTS
Authors: ALVAREZ R ZARZA R PUJADES A OLIVA E LASHERAS G CALLIS M RIBES A BEUTLER E CORRONS JLV
Citation: R. Alvarez et al., HEREDITARY NONSPHEROCYTIC HEMOLYTIC-ANEMIA DUE TO RED-BLOOD-CELL GLUTATHIONE SYNTHETASE DEFICIENCY - CLINICAL AND BIOLOGICAL FINDINGS IN 4 UNRELATED SPANISH PATIENTS, British Journal of Haematology, 102(1), 1998, pp. 297-297
SYNDROME OF ENCEPHALOPATHY, PETECHIAE, AND ETHYLMALONIC ACIDURIA
Authors: GARCIASILVA MT RIBES A CAMPOS Y GARAVAGLIA B ARENAS J
Citation: Mt. Garciasilva et al., SYNDROME OF ENCEPHALOPATHY, PETECHIAE, AND ETHYLMALONIC ACIDURIA, Pediatric neurology, 17(2), 1997, pp. 165-170
A NEW CASE OF MULTIPLE MITOCHONDRIAL ENZYME DEFICIENCIES WITH DECREASED AMOUNT OF HEAT-SHOCK-PROTEIN-60
Authors: BRIONES P VILASECA MA RIBES A VERNET A LLUCH M CUSI V HUCKRIEDE A AGSTERIBBE E
Citation: P. Briones et al., A NEW CASE OF MULTIPLE MITOCHONDRIAL ENZYME DEFICIENCIES WITH DECREASED AMOUNT OF HEAT-SHOCK-PROTEIN-60, Journal of inherited metabolic disease, 20(4), 1997, pp. 569-577
COMPOUND HETEROZYGOSITY IN THE GLUTARYL-COA DEHYDROGENASE GENE WITH R227P MUTATION IN ONE ALLELE IS ASSOCIATED WITH NO OR VERY-LOW FREE GLUTARATE EXCRETION
Authors: CHRISTENSEN E RIBES A BUSQUETS C PINEDA M DURAN M POLLTHE BT GREENBERG CR LEFFERS H SCHWARTZ M
Citation: E. Christensen et al., COMPOUND HETEROZYGOSITY IN THE GLUTARYL-COA DEHYDROGENASE GENE WITH R227P MUTATION IN ONE ALLELE IS ASSOCIATED WITH NO OR VERY-LOW FREE GLUTARATE EXCRETION, Journal of inherited metabolic disease, 20(3), 1997, pp. 383-386
A SURVEY OF THE NEWBORN POPULATIONS IN BELGIUM, GERMANY, POLAND, CZECH-REPUBLIC, HUNGARY, BULGARIA, SPAIN, TURKEY, AND JAPAN FOR THE G985 VARIANT ALLELE WITH HAPLOTYPE ANALYSIS AT THE MEDIUM-CHAIN ACYL-COA DEHYDROGENASE GENE LOCUS - CLINICAL AND EVOLUTIONARY CONSIDERATION
Authors: TANAKA K GREGERSEN N RIBES A KIM J KOLVRAA S WINTER V EIBERG H MARTINEZ G DEUFEL T LEIFERT B SANTER R FRANCOIS B PRONICKA E LASZLO A KMOCH S KREMENSKY I KALAYDJICVA L OZALP I ITO M
Citation: K. Tanaka et al., A SURVEY OF THE NEWBORN POPULATIONS IN BELGIUM, GERMANY, POLAND, CZECH-REPUBLIC, HUNGARY, BULGARIA, SPAIN, TURKEY, AND JAPAN FOR THE G985 VARIANT ALLELE WITH HAPLOTYPE ANALYSIS AT THE MEDIUM-CHAIN ACYL-COA DEHYDROGENASE GENE LOCUS - CLINICAL AND EVOLUTIONARY CONSIDERATION, Pediatric research, 41(2), 1997, pp. 201-209
A 2-BASE DELETION IN EXON-6 OF THE 3-HYDROXY-3-METHYLGLUTARYL COENZYME-A LYASE (HL) GENE PRODUCING THE SKIPPING OF EXON-5 AND EXON-6 DETERMINES 3-HYDROXY-3-METHYLGLUTARIC ACIDURIA
Authors: CASALS N PIE J CASALE CH ZAPATER N RIBES A CASTROGAGO M RODRIGUEZSEGADE S WANDERS RJR HEGARDT FG
Citation: N. Casals et al., A 2-BASE DELETION IN EXON-6 OF THE 3-HYDROXY-3-METHYLGLUTARYL COENZYME-A LYASE (HL) GENE PRODUCING THE SKIPPING OF EXON-5 AND EXON-6 DETERMINES 3-HYDROXY-3-METHYLGLUTARIC ACIDURIA, Journal of lipid research, 38(11), 1997, pp. 2303-2313
PLASMA-FREE FATTY-ACIDS IN MITOCHONDRIAL FATTY-ACID OXIDATION DEFECTS
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
THE CLINICAL SPECTRUM OF LONG-CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE-DEFICIENCY
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
LEIGH-SYNDROME DUE TO PYRUVATE-DEHYDROGENASE E1-ALPHA DEFICIENCY (POINT MUTATION R263G) IN A SPANISH BOY
Authors: BRIONES P LOPEZ MJ DEMEIRLEIR L RIBES A RODES M MARTINEZCOSTA C PERIS M LISSENS W
Citation: P. Briones et al., LEIGH-SYNDROME DUE TO PYRUVATE-DEHYDROGENASE E1-ALPHA DEFICIENCY (POINT MUTATION R263G) IN A SPANISH BOY, Journal of inherited metabolic disease, 19(6), 1996, pp. 795-796
LANDER POOLING AND DATA-COLLECTION PRINCIPLE FOR FUTURE PLANETARY MISSIONS
Authors: RIBES A
Citation: A. Ribes, LANDER POOLING AND DATA-COLLECTION PRINCIPLE FOR FUTURE PLANETARY MISSIONS, Acta astronautica, 38(4-8), 1996, pp. 659-666
PERMEABILITY OF COEXTRUDED LINEAR LOW-DENSITY POLYETHYLENE FILMS TO OXYGEN AND CARBON-DIOXIDE AS DETERMINED BY ELECTROCHEMICAL TECHNIQUES
Authors: COMPAN V RIBES A DIAZCALLEJA R RIANDE E
Citation: V. Compan et al., PERMEABILITY OF COEXTRUDED LINEAR LOW-DENSITY POLYETHYLENE FILMS TO OXYGEN AND CARBON-DIOXIDE AS DETERMINED BY ELECTROCHEMICAL TECHNIQUES, Polymer, 37(11), 1996, pp. 2243-2250
ETHYLMALONIC ACIDURIA IS ASSOCIATED WITH AN AMINO-ACID VARIANT OF SHORT-CHAIN ACYL-COENZYME-A DEHYDROGENASE
Authors: CORYDON MJ GREGERSEN N LEHNERT W RIBES A RINALDO P KMOCH S CHRISTENSEN E KRISTENSEN TJ ANDRESEN BS BROSS P WINTER V MARTINEZ G NEVE S JENSEN TG BOLUND L KOLVRAA S
Citation: Mj. Corydon et al., ETHYLMALONIC ACIDURIA IS ASSOCIATED WITH AN AMINO-ACID VARIANT OF SHORT-CHAIN ACYL-COENZYME-A DEHYDROGENASE, Pediatric research, 39(6), 1996, pp. 1059-1066
MECHANICAL RELAXATIONS AND DIFFUSIVE CHANGES IN LINEAR LOW-DENSITY POLYETHYLENE (LLDPE) FILMS SUBJECT TO INDUCED STRETCHING
Authors: COMPAN V DIAZCALLEJA R RIBES A ANDRIO A LOPEZ ML RIANDE E
Citation: V. Compan et al., MECHANICAL RELAXATIONS AND DIFFUSIVE CHANGES IN LINEAR LOW-DENSITY POLYETHYLENE (LLDPE) FILMS SUBJECT TO INDUCED STRETCHING, Journal of applied polymer science, 60(5), 1996, pp. 767-778
AN ATYPICAL FRENCH FORM OF PYRUVATE-CARBOXYLASE DEFICIENCY
Authors: PINEDA M CAMPISTOL J VILASECA MA BRIONES P RIBES A TEMUDO T PONS M CUSI V ROLLAND MO
Citation: M. Pineda et al., AN ATYPICAL FRENCH FORM OF PYRUVATE-CARBOXYLASE DEFICIENCY, Brain & development, 17(4), 1995, pp. 276-279
METABOLIC COMA WITH KETOACIDOSIS AND HYPERGLYCEMIA IN 2-METHYLACETOACETYL-COA THIOLASE DEFICIENCY
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
CLINICAL AND BIOCHEMICAL FINDINGS IN A SPANISH BOY WITH PRIMARY CARNITINE DEFICIENCY
Authors: BRIONES P GARAVAGLIA B RIBES A YOLDI ME RODES M ROMERO C GARCIABRAGADO F
Citation: P. Briones et al., CLINICAL AND BIOCHEMICAL FINDINGS IN A SPANISH BOY WITH PRIMARY CARNITINE DEFICIENCY, Journal of inherited metabolic disease, 18(2), 1995, pp. 237-240
MECHANICAL RELAXATIONS AND DIFFUSIONAL CHARACTERISTICS OF COEXTRUDED FILMS PREPARED FROM COPOLYMERS OF ETHYLENE-1-OCTENE
Authors: COMPAN V RIBES A DIAZCALLEJA R RIANDE E
Citation: V. Compan et al., MECHANICAL RELAXATIONS AND DIFFUSIONAL CHARACTERISTICS OF COEXTRUDED FILMS PREPARED FROM COPOLYMERS OF ETHYLENE-1-OCTENE, Polymer, 36(2), 1995, pp. 323-330
Risultati: 1-25 | 26-32