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Results: 1-8 |
Results: 8
MOLECULAR TESTING OF FAMILIES WITH ORNITHINE TRANSCARBAMYLASE (OTC) DEFICIENCY
Authors: GUARDAMAGNA O PLANTE RJ SPADA N PARINI R TUCHMAN M
Citation: O. Guardamagna et al., MOLECULAR TESTING OF FAMILIES WITH ORNITHINE TRANSCARBAMYLASE (OTC) DEFICIENCY, American journal of human genetics, 57(4), 1995, pp. 1024-1024
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
RAPID DETECTION OF MEDIUM-CHAIN ACYL-COA DEHYDROGENASE GENE-MUTATIONSBY NONRADIOACTIVE, SINGLE-STRAND CONFORMATION POLYMORPHISM MINIGELS
Authors: IOLASCON A PARRELLA T PERROTTA S GUARDAMAGNA O COATES PM SARTORE M SURREY S FORTINA P
Citation: A. Iolascon et al., RAPID DETECTION OF MEDIUM-CHAIN ACYL-COA DEHYDROGENASE GENE-MUTATIONSBY NONRADIOACTIVE, SINGLE-STRAND CONFORMATION POLYMORPHISM MINIGELS, Journal of Medical Genetics, 31(7), 1994, pp. 551-554
A NOVEL MISSENSE MUTATION IN THE C-TERMINAL DOMAIN OF LIPOPROTEIN-LIPASE (GLU(410)-]VAL) LEADS TO ENZYME INACTIVATION AND FAMILIAL CHYLOMICRONEMIA
Authors: PREVIATO L GUARDAMAGNA O DUGI KA RONAN R TALLEY GD SANTAMARINAFOJO S BREWER HB
Citation: L. Previato et al., A NOVEL MISSENSE MUTATION IN THE C-TERMINAL DOMAIN OF LIPOPROTEIN-LIPASE (GLU(410)-]VAL) LEADS TO ENZYME INACTIVATION AND FAMILIAL CHYLOMICRONEMIA, Journal of lipid research, 35(9), 1994, pp. 1552-1560
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
DIFFERENTIAL-DIAGNOSIS OF HYPERPHENYLALANINEMIA BY A COMBINED PHENYLALANINE-TETRAHYDROBIOPTERIN LOADING TEST
Authors: PONZONE A GUARDAMAGNA O SPADA M FERRARIS S PONZONE R KIERAT L BLAU N
Citation: A. Ponzone et al., DIFFERENTIAL-DIAGNOSIS OF HYPERPHENYLALANINEMIA BY A COMBINED PHENYLALANINE-TETRAHYDROBIOPTERIN LOADING TEST, European journal of pediatrics, 152(8), 1993, pp. 655-661
HYPERPHENYLALANINEMIA AND PTERIN METABOLISM IN SERUM AND ERYTHROCYTES
Authors: PONZONE A GUARDAMAGNA O SPADA M PONZONE R SARTORE M KIERAT L HEIZMANN CW BLAU N
Citation: A. Ponzone et al., HYPERPHENYLALANINEMIA AND PTERIN METABOLISM IN SERUM AND ERYTHROCYTES, Clinica chimica acta, 216(1-2), 1993, pp. 63-71
Risultati: 1-8 |