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Results: 1-25 | 26-32
Results: 1-25/32
DIHYDROPTERIDINE REDUCTASE DEFICIENCY - PHYSICAL STRUCTURE OF THE QDPR GENE, IDENTIFICATION OF 2 NEW MUTATIONS AND GENOTYPE-PHENOTYPE CORRELATIONS
Authors: DIANZANI I DESANCTIS L SMOOKER PM GOUGH TJ ALLIAUDI C BRUSCO A SPADA M BLAU N DOBOS M ZHANG HP YANG N PONZONE A ARMAREGO WLF COTTON RGH
Citation: I. Dianzani et al., DIHYDROPTERIDINE REDUCTASE DEFICIENCY - PHYSICAL STRUCTURE OF THE QDPR GENE, IDENTIFICATION OF 2 NEW MUTATIONS AND GENOTYPE-PHENOTYPE CORRELATIONS, Human mutation, 12(4), 1998, pp. 267-273
PHENYLALANINE AND TYROSINE METABOLISM IN PHENYLKETONURIA HETEROZYGOTES - INFLUENCE OF DIFFERENT PHENYLALANINE-HYDROXYLASE MUTATIONS
Authors: SPADA M DIANZANI I BONETTI G BIONDI A LEONE L GIANNATTASIO S PONZONE A
Citation: M. Spada et al., PHENYLALANINE AND TYROSINE METABOLISM IN PHENYLKETONURIA HETEROZYGOTES - INFLUENCE OF DIFFERENT PHENYLALANINE-HYDROXYLASE MUTATIONS, Journal of inherited metabolic disease, 21(3), 1998, pp. 236-239
PHENYLKETONURIA - FROM BIOCHEMISTRY TO TREATMENT - DISCUSSION
Authors: FRANCOIS B PONZONE A OZALP I LEVY H KAUFMAN E ROMANO V PUGLISIALLEGRA S MCDONALD JD
Citation: B. Francois et al., PHENYLKETONURIA - FROM BIOCHEMISTRY TO TREATMENT - DISCUSSION, Journal of inherited metabolic disease, 21, 1998, pp. 20-52
CARDIAC RESPONSE TO ENZYME-REPLACEMENT THERAPY IN GAUCHERS-DISEASE
Authors: SPADA M CHIAPPA E PONZONE A
Citation: M. Spada et al., CARDIAC RESPONSE TO ENZYME-REPLACEMENT THERAPY IN GAUCHERS-DISEASE, The New England journal of medicine, 339(16), 1998, pp. 1165-1166
A EUROPEAN MULTICENTER STUDY OF PHENYLALANINE-HYDROXYLASE DEFICIENCY - CLASSIFICATION OF 105 MUTATIONS AND A GENERAL SYSTEM FOR GENOTYPE-BASED PREDICTION OF METABOLIC PHENOTYPE
Authors: GULDBERG P REY F ZSCHOCKE J ROMANO V FRANCOIS B MICHIELS L ULLRICH K HOFFMANN GF BURGARD P SCHMIDT H MELI C RIVA E DIANZANI I PONZONE A REY J GUTTLER F
Citation: P. Guldberg et al., A EUROPEAN MULTICENTER STUDY OF PHENYLALANINE-HYDROXYLASE DEFICIENCY - CLASSIFICATION OF 105 MUTATIONS AND A GENERAL SYSTEM FOR GENOTYPE-BASED PREDICTION OF METABOLIC PHENOTYPE, American journal of human genetics, 63(1), 1998, pp. 71-79
IDENTIFICATION OF MUTATIONS CAUSING 6-PYRUVOYL-TETRAHYDROPTERIN SYNTHASE DEFICIENCY IN 4 ITALIAN FAMILIES
Authors: OPPLIGER T THONY B KLUGE C MATASOVIC A HEIZMANN CW PONZONE A SPADA M BLAU N
Citation: T. Oppliger et al., IDENTIFICATION OF MUTATIONS CAUSING 6-PYRUVOYL-TETRAHYDROPTERIN SYNTHASE DEFICIENCY IN 4 ITALIAN FAMILIES, Human mutation, 10(1), 1997, pp. 25-35
DIHYDROPTERIDINE REDUCTASE (DHPR) DEFICIENCY - BIOCHEMICAL-CHARACTERIZATION OF A NEW MILD MUTATION AND DEFINITION OF THE GENOMIC STRUCTURE OF THE DHPR GENE
Authors: DESANCTIS L ARMAREGO W SMOOKER P GOUGH T BRUSCO A ZHANG HP YANG N PONZONE A COTTON RGH DIANZANI I
Citation: L. Desanctis et al., DIHYDROPTERIDINE REDUCTASE (DHPR) DEFICIENCY - BIOCHEMICAL-CHARACTERIZATION OF A NEW MILD MUTATION AND DEFINITION OF THE GENOMIC STRUCTURE OF THE DHPR GENE, American journal of human genetics, 61(4), 1997, pp. 1452-1452
LOCALIZATION, BY LINKAGE ANALYSIS, OF THE CYSTINURIA TYPE-III GENE TOCHROMOSOME 19Q13.1
Authors: BISCEGLIA L CALONGE MJ TOTARO A FELIUBADALO L MELCHIONDA S GARCIA J TESTAR X GALLUCCI M PONZONE A ZELANTE L ZORZANO A ESTIVILL X GASPARINI P NUNES V PALACIN M
Citation: L. Bisceglia et al., LOCALIZATION, BY LINKAGE ANALYSIS, OF THE CYSTINURIA TYPE-III GENE TOCHROMOSOME 19Q13.1, American journal of human genetics, 60(3), 1997, pp. 611-616
DERANGEMENT OF PYRUVATE-DEHYDROGENASE ACTIVITY IN CIRCULATING LYMPHOCYTES OF A NEWBORN WITH FETAL ALCOHOL SYNDROME
Authors: FERRARIS S MOSTERT M RABBONE I CERUTTI F BORGIONE S CURTO M MIOLETTI S PONZONE A SILVESTRO L RINAUDO MT
Citation: S. Ferraris et al., DERANGEMENT OF PYRUVATE-DEHYDROGENASE ACTIVITY IN CIRCULATING LYMPHOCYTES OF A NEWBORN WITH FETAL ALCOHOL SYNDROME, Acta paediatrica, 85(5), 1996, pp. 640-640
PHENOTYPING OF PHENYLKETONURIC PATIENTS BY ORAL PHENYLALANINE LOADING
Authors: PONZONE A SPADA M DESANCTIS L DIANZANI I
Citation: A. Ponzone et al., PHENOTYPING OF PHENYLKETONURIC PATIENTS BY ORAL PHENYLALANINE LOADING, European journal of pediatrics, 155(6), 1996, pp. 523-524
MONITORING TREATMENT IN TETRAHYDROBIOPTERIN DEFICIENCY BY SERUM PROLACTIN
Authors: SPADA M FERRARIS S FERRERO GB SARTORE M LANZA C PERFETTO F DESANCTIS L DOMPE C BLAU N PONZONE A
Citation: M. Spada et al., MONITORING TREATMENT IN TETRAHYDROBIOPTERIN DEFICIENCY BY SERUM PROLACTIN, Journal of inherited metabolic disease, 19(2), 1996, pp. 231-233
PHENOTYPE CHARACTERIZATION AND PREVALENCE OF RBAT M467T MUTATION IN ITALIAN CYSTINURIC PATIENTS
Authors: DESANCTIS L BRUNO M BONETTI G COSSEDDU D BISCEGLIA L PONZONE A DIANZANI J
Citation: L. Desanctis et al., PHENOTYPE CHARACTERIZATION AND PREVALENCE OF RBAT M467T MUTATION IN ITALIAN CYSTINURIC PATIENTS, Journal of inherited metabolic disease, 19(2), 1996, pp. 243-245
TETRAHYDROBIOPTERIN AND INHERITED HYPERPHENYLALANINEMIAS
Authors: BLAU N THONY B SPADA M PONZONE A
Citation: N. Blau et al., TETRAHYDROBIOPTERIN AND INHERITED HYPERPHENYLALANINEMIAS, Turkish Journal of Pediatrics, 38(1), 1996, pp. 19-35
NOVEL MISSENSE MUTATION IN THE PHENYLALANINE-HYDROXYLASE GENE LEADINGTO COMPLETE LOSS OF ENZYMATIC-ACTIVITY
Authors: DIANZANI I KNAPPSKOG PM DESANCTIS L GIANNATTASIO S RIVA E PONZONE A APOLD J CAMASCHELLA C
Citation: I. Dianzani et al., NOVEL MISSENSE MUTATION IN THE PHENYLALANINE-HYDROXYLASE GENE LEADINGTO COMPLETE LOSS OF ENZYMATIC-ACTIVITY, Human mutation, 6(3), 1995, pp. 247-249
CHARACTERIZATION OF PHENYLKETONURIA ALLELES IN THE ITALIAN POPULATION
Authors: DIANZANI I GIANNATTASIO S DESANCTIS L ALLIAUDI C LATTANZIO P VICI CD BURLINA A BURRONI M SEBASTIO G CARNEVALE F GUZZETTA V MARRA E CAMASCHELLA C PONZONE A
Citation: I. Dianzani et al., CHARACTERIZATION OF PHENYLKETONURIA ALLELES IN THE ITALIAN POPULATION, European journal of human genetics, 3(5), 1995, pp. 294-302
CHYLOMICRONEMIA SYNDROME DUE TO LIPOPROTE IN-LIPASE (LPL) DEFICIENCY - A POSSIBLE CAUSE OF METABOLIC EMERGENCY
Authors: FERRARIS S SPADA M FERRERO GB DOMPE C PONZONE A
Citation: S. Ferraris et al., CHYLOMICRONEMIA SYNDROME DUE TO LIPOPROTE IN-LIPASE (LPL) DEFICIENCY - A POSSIBLE CAUSE OF METABOLIC EMERGENCY, Rivista italiana di pediatria, 21(2), 1995, pp. 247-252
MONOAMINE-OXIDASE INHIBITORS IN TETRAHYDROBIOPTERIN DEFICIENCY
Authors: SCHULER A BLAU N PONZONE A
Citation: A. Schuler et al., MONOAMINE-OXIDASE INHIBITORS IN TETRAHYDROBIOPTERIN DEFICIENCY, European journal of pediatrics, 154(12), 1995, pp. 997-997
GENETIC-HETEROGENEITY IN CYSTINURIA - NEW MUTATIONS AND POLYMORPHISMS
Authors: CALONGE MJ VOLPINI V BISCEGLIA L PURROY J ROUSAUD F DESANCTIS L BECCIA E ZELANTE L TESTAR X ZORZANO A PONZONE A ESTIVILL X GASPARINI P PALACIN M NUNES V
Citation: Mj. Calonge et al., GENETIC-HETEROGENEITY IN CYSTINURIA - NEW MUTATIONS AND POLYMORPHISMS, American journal of human genetics, 57(4), 1995, pp. 1206-1206
MOLECULAR-GENETICS OF CYSTINURIA - IDENTIFICATION OF 4 NEW MUTATIONS AND 7 POLYMORPHISMS, AND EVIDENCE FOR GENETIC-HETEROGENEITY
Authors: GASPARINI P CALONGE MJ BISCEGLIA L PURROY J DIANZANI I NOTARANGELO A ROUSAUD F GALLUCCI M TESTAR X PONZONE A ESTIVILL X ZORZANO A PALACIN M NUNES V ZELANTE L
Citation: P. Gasparini et al., MOLECULAR-GENETICS OF CYSTINURIA - IDENTIFICATION OF 4 NEW MUTATIONS AND 7 POLYMORPHISMS, AND EVIDENCE FOR GENETIC-HETEROGENEITY, American journal of human genetics, 57(4), 1995, pp. 781-788
COMBINED PHENYLALANINE-TETRAHYDROBIOPTERIN LOADING TEST IN GTP CYCLOHYDROLASE-1 DEFICIENCY
Authors: PONZONE A FERRARIS S SPADA M BLAU N PIOVAN S BURLINA AB
Citation: A. Ponzone et al., COMBINED PHENYLALANINE-TETRAHYDROBIOPTERIN LOADING TEST IN GTP CYCLOHYDROLASE-1 DEFICIENCY, European journal of pediatrics, 153(8), 1994, pp. 616-616
PRENATAL-DIAGNOSIS BY MINISATELLITE ANALYSIS IN ITALIAN FAMILIES WITHPHENYLKETONURIA
Authors: ROMANO V DIANZANI I PONZONE A ZAMMARCHI E EISENSMITH R CERATTO N BOSCO P INDELICATO A
Citation: V. Romano et al., PRENATAL-DIAGNOSIS BY MINISATELLITE ANALYSIS IN ITALIAN FAMILIES WITHPHENYLKETONURIA, Prenatal diagnosis, 14(10), 1994, pp. 959-962
MAPLE-SYRUP-URINE-DISEASE (MSUD) - SCREENING FOR KNOWN MUTATIONS IN ITALIAN PATIENTS
Authors: PARRELLA T SURREY S IOLASCON A SARTORE M HEIDENREICH R DIAMOND G PONZONE A GUARDAMAGNA O BURLINA AB CERONE R PARINI R DIONISIVICI C RAPPAPORT E FORTINA P
Citation: T. Parrella et al., MAPLE-SYRUP-URINE-DISEASE (MSUD) - SCREENING FOR KNOWN MUTATIONS IN ITALIAN PATIENTS, Journal of inherited metabolic disease, 17(6), 1994, pp. 652-660
RECURRENT EPISODES OF BIZARRE BEHAVIOR IN A BOY WITH ORNITHINE TRANSCARBAMYLASE DEFICIENCY - DIAGNOSTIC FAILURE OF PROTEIN LOADING AND ALLOPURINOL CHALLENGE TESTS
Authors: SPADA M GUARDAMAGNA O RABIER D VANDERMEER SB PARVY P BARDET J PONZONE A SAUDUBRAY JM
Citation: M. Spada et al., RECURRENT EPISODES OF BIZARRE BEHAVIOR IN A BOY WITH ORNITHINE TRANSCARBAMYLASE DEFICIENCY - DIAGNOSTIC FAILURE OF PROTEIN LOADING AND ALLOPURINOL CHALLENGE TESTS, The Journal of pediatrics, 125(2), 1994, pp. 249-251
ANTENATAL DIAGNOSIS OF TETRAHYDROBIOPTERIN DEFICIENCY BY QUANTIFICATION OF PTERINS IN AMNIOTIC-FLUID AND ENZYME-ACTIVITY IN FETAL AND EXTRAFETAL TISSUE
Authors: BLAU N KIERAT L MATASOVIC A LEIMBACHER W HEIZMANN CW GUARDAMAGNA O PONZONE A
Citation: N. Blau et al., ANTENATAL DIAGNOSIS OF TETRAHYDROBIOPTERIN DEFICIENCY BY QUANTIFICATION OF PTERINS IN AMNIOTIC-FLUID AND ENZYME-ACTIVITY IN FETAL AND EXTRAFETAL TISSUE, Clinica chimica acta, 226(2), 1994, pp. 159-169
GENETIC HISTORY OF PHENYLKETONURIA MUTATIONS IN ITALY
Authors: DIANZANI I GIANNATTASIO S DESANCTIS L MARRA E PONZONE A CAMASCHELLA C PIAZZA A
Citation: I. Dianzani et al., GENETIC HISTORY OF PHENYLKETONURIA MUTATIONS IN ITALY, American journal of human genetics, 55(4), 1994, pp. 851-853
Risultati: 1-25 | 26-32