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Results:
1-22
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Results: 22
Authors:
MALLOLAS J
CAMPISTOL J
LAMBRUSCHINI N
VILASECA MA
CAMBRA FJ
BADENAS C
ESTIVILL X
MILA M
Citation: J. Mallolas et al., MUTATIONAL SPECTRUM OF PHENYLKETONURIA IN THE POPULATION RESIDENT IN CATALONIA, European journal of human genetics, 6, 1998, pp. 4164-4164
Authors:
MOYANO D
VILASECA MA
ARTUCH R
LAMBRUSCHINI N
Citation: D. Moyano et al., PLASMA AMINO-ACIDS IN ANOREXIA-NERVOSA, European journal of clinical nutrition, 52(9), 1998, pp. 684-689
Authors:
MOYANO D
VILASECA MA
ARTUCH R
VALLS C
LAMBRUSCHINI N
Citation: D. Moyano et al., PLASMA TOTAL-HOMOCYSTEINE IN ANOREXIA-NERVOSA, European journal of clinical nutrition, 52(3), 1998, pp. 172-175
Authors:
BURWINKEL B
AMAT L
GRAY RGF
MATSUO N
MUROYA K
NARISAWA K
SOKOL RJ
VILASECA MA
KILIMANN MW
Citation: B. Burwinkel et al., VARIABILITY OF BIOCHEMICAL AND CLINICAL PHENOTYPE IN X-LINKED LIVER GLYCOGENOSIS WITH MUTATIONS IN THE PHOSPHORYLASE-KINASE PHKA2 GENE, Human genetics, 102(4), 1998, pp. 423-429
Authors:
ARTUCH R
PAVIA C
PLAYAN A
VILASECA MA
COLOMER J
VALLS C
RISSECH M
GONZALEZ MA
POU A
BRIONES P
MONTOYA J
PINEDA M
Citation: R. Artuch et al., MULTIPLE ENDOCRINE INVOLVEMENT IN 2 PEDIATRIC-PATIENTS WITH KEARNS-SAYRE-SYNDROME, Hormone research, 50(2), 1998, pp. 99-104
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
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
Authors:
VILASECA MA
MOYANO D
ARTUCH R
FERRER I
PINEDA M
CARDO E
CAMPISTOL J
PAVIA C
CAMACHO JA
Citation: Ma. Vilaseca et al., SELECTIVE SCREENING FOR HYPERHOMOCYSTEINEMIA IN PEDIATRIC-PATIENTS, Clinical chemistry, 44(3), 1998, pp. 662-664
Authors:
ARTUCH R
MORENO J
QUINTANA M
PUIG RM
VILASECA MA
Citation: R. Artuch et al., SERUM UBIQUINONE-10 IN A PEDIATRIC POPULATION, Clinical chemistry, 44(11), 1998, pp. 2378-2379
Authors:
SIERRA C
VILASECA MA
MOYANO D
BRANDI N
CAMPISTOL J
LAMBRUSCHINI N
CAMBRA J
DEULOFEU R
MIRA A
Citation: C. Sierra et al., ANTIOXIDANT STATUS IN HYPERPHENYLALANINEMIA, Clinica chimica acta, 276(1), 1998, pp. 1-9
Authors:
GARCIAPEREZ MA
CLIMENT C
BRIONES P
VILASECA MA
RODES M
RUBIO V
Citation: Ma. Garciaperez et al., 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 DEFICIENCY, Journal of inherited metabolic disease, 20(6), 1997, pp. 769-777
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
Authors:
JAEKEN J
ARTIGAS J
BARONE R
FIUMARA A
DEKONING TJ
POLLTHE BT
DERIJKVANANDEL JF
HOFFMANN GF
ASSMANN B
MAYATEPEK E
PINEDA M
VILASECA MA
SAUDUBRAY JM
SCHLUTER B
WEVERS R
VANSCHAFTINGEN E
Citation: J. Jaeken et al., PHOSPHOMANNOMUTASE DEFICIENCY IS THE MAIN CAUSE OF CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME WITH TYPE-I ISOELECTROFOCUSING PATTERN OF SERUM SIALOTRANSFERRINS, Journal of inherited metabolic disease, 20(3), 1997, pp. 447-449
Authors:
PINTO X
MAINOU C
VILASECA MA
FERRER I
PALA M
MECO JF
POU J
PUJOL R
Citation: X. Pinto et al., MODERATE HYPERHOMOCYSTEINEMIA AND EARLY MYOCARDIAL-INFARCTION - RELATION WITH VITAMINS B6, B12 AND FOLATE, Atherosclerosis, 134(1-2), 1997, pp. 165-166
Authors:
VILASECA MA
MOYANO D
FERRER I
ARTUCH R
Citation: Ma. Vilaseca et al., TOTAL HOMOCYSTEINE IN PEDIATRIC-PATIENTS, Clinical chemistry, 43(4), 1997, pp. 690-692
Authors:
MOYANO D
VILASECA MA
PINEDA M
CAMPISTOL J
VERNET A
POO P
ARTUCH R
SIERRA C
Citation: D. Moyano et al., TOCOPHEROL IN INBORN-ERRORS OF INTERMEDIARY METABOLISM, Clinica chimica acta, 263(2), 1997, pp. 147-155
Authors:
PINEDA M
PAVIA C
VILASECA MA
FERRER I
TEMUDO T
CHABAS A
STIBLER H
JAEKEN J
Citation: M. Pineda et al., NORMAL PUBERTAL DEVELOPMENT IN A FEMALE WITH CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, Archives of Disease in Childhood, 74(3), 1996, pp. 242-243
Authors:
ARTUCH R
VILASECA MA
FARRE C
RAMON F
Citation: R. Artuch et al., DETERMINATION OF LACTATE, PYRUVATE, BETA-HYDROXYBUTYRATE AND ACETOACETATE WITH A CENTRIFUGAL ANALYZER, European journal of clinical chemistry and clinical biochemistry, 33(8), 1995, pp. 529-533
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
Authors:
VILASECA MA
CAMACHO JA
BRIONES P
FARRE C
MAS A
Citation: Ma. Vilaseca et al., BIOCHEMICAL FOLLOW-UP IN LATE-TREATED NEPHROPATHIC CYSTINOSIS, Journal of inherited metabolic disease, 18(2), 1995, pp. 147-150
Authors:
PINEDA M
VILASECA MA
VERNET A
CAMPISTOL J
MAS A
FABREGA C
Citation: M. Pineda et al., THE ALLOPURINOL TEST IN PATIENTS WITH RETT-SYNDROME, Journal of inherited metabolic disease, 16(3), 1993, pp. 577-580
Authors:
PINEDA M
VILASECA MA
MAS A
FABREGA C
ALVAREZ EF
Citation: M. Pineda et al., DIAGNOSIS OF ORNITHINE CARBAMOYL TRANSFER ASE DEFICIENCY AND HETEROZYGOTE DETECTION BY MEANS OF ALLOPURINOL LOADING TEST, Medicina Clinica, 101(10), 1993, pp. 383-386
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