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Results: 1-25 | 26-34
Results: 1-25/34
HYPERINSULINISM AND HYPERAMMONEMIA IN INFANTS WITH REGULATORY MUTATIONS OF THE GLUTAMATE-DEHYDROGENASE GENE
Authors: STANLEY CA LIEU YK HSU BYL BURLINA AB GREENBERG CR HOPWOOD NJ PERLMAN K RICH BH ZAMMARCHI E PONCZ M
Citation: Ca. Stanley et al., HYPERINSULINISM AND HYPERAMMONEMIA IN INFANTS WITH REGULATORY MUTATIONS OF THE GLUTAMATE-DEHYDROGENASE GENE, The New England journal of medicine, 338(19), 1998, pp. 1352-1357
NEW LYSOSOMAL ACID LIPASE GENE MUTANTS EXPLAIN THE PHENOTYPE OF WOLMAN-DISEASE AND CHOLESTERYL ESTER STORAGE DISEASE
Authors: PAGANI F PARIYARATH R GARCIA R STUANI C BURLINA AB RUOTOLO G RABUSIN M BARALLE FE
Citation: F. Pagani et al., NEW LYSOSOMAL ACID LIPASE GENE MUTANTS EXPLAIN THE PHENOTYPE OF WOLMAN-DISEASE AND CHOLESTERYL ESTER STORAGE DISEASE, Journal of lipid research, 39(7), 1998, pp. 1382-1388
AN ATYPICAL FORM OF PYRUVATE-CARBOXYLASE DEFICIENCY
Authors: BONAFE L BURLINA AB SANSONI S GRAZIAN L ZORZI C ROBINSON BH ZACCHELLO F
Citation: L. Bonafe et al., AN ATYPICAL FORM OF PYRUVATE-CARBOXYLASE DEFICIENCY, Rivista italiana di pediatria, 23(6), 1997, pp. 1021-1024
DIAGNOSIS, CLASSIFICATION, BASIS OF TREAT MENT OF HYPERPHENYLALANINEMIAS
Authors: ROMANO C BURRONI M CACCIARI E CERONE R CORBETTA C LILLIU F BALSAMO A CARDILLO A CARNEVALE F CARUSO U CIATTI R CIONI M DOTTI L IMPELLIZZERI A LELLI A LEUZZI V PAGLIARDINI S PIAZZI S PRINCIPI R SALARDI S SCHIAFFINO MC ALOISI R ALTAMURA A BIASUCCI G BURLINA AB COTUGNO G FABIANO F GHIRRI P GIOVANNINI M MELI C MOSTARDINI R MUSARO MA PAOLILLO L PERUZZI L PIGNERO A PULITI MT RIVA E SORTINO C SPADA M TERRANOVA D ZAMMARCHI E
Citation: C. Romano et al., DIAGNOSIS, CLASSIFICATION, BASIS OF TREAT MENT OF HYPERPHENYLALANINEMIAS, Rivista italiana di pediatria, 23(6), 1997, pp. 1040-1044
MAST-CELLS CONTAIN LARGE QUANTITIES OF SECRETAGOGUE-SENSITIVE N-ACETYLASPARTATE
Authors: BURLINA AP FERRARI V FACCI L SKAPER SD BURLINA AB
Citation: Ap. Burlina et al., MAST-CELLS CONTAIN LARGE QUANTITIES OF SECRETAGOGUE-SENSITIVE N-ACETYLASPARTATE, Journal of neurochemistry, 69(3), 1997, pp. 1314-1317
MACROCEPHALY, SUBARACHNOID FLUID COLLECTION, AND GLUTARIC ACIDURIA TYPE-I
Authors: DRIGO P PIOVAN S BATTISTELLA PA DELLAPUPPA A BURLINA AB
Citation: P. Drigo et al., MACROCEPHALY, SUBARACHNOID FLUID COLLECTION, AND GLUTARIC ACIDURIA TYPE-I, Journal of child neurology, 11(5), 1996, pp. 414-417
DEFICIENCY OF FRUCTOSE-1,6-BIPHOSPHATASE - DIAGNOSTIC DIFFICULTIES INA LATE-ONSET CASE
Authors: ROSCO A BARDELLI P BURLINA AB CASTIGLIONI G CORBETTA C MELOTTI D MENNI F PAROLA L PARINI R
Citation: A. Rosco et al., DEFICIENCY OF FRUCTOSE-1,6-BIPHOSPHATASE - DIAGNOSTIC DIFFICULTIES INA LATE-ONSET CASE, Rivista italiana di pediatria, 22(6), 1996, pp. 953-956
NADPH OXIDASE ACTIVITY AND CHEMOTAXIS BY NEUTROPHILS IN 2 PATIENTS WITH GLYCOGEN-STORAGE-DISEASE TYPE IB TREATED WITH RECOMBINANT HUMAN GRANULOCYTE-MONOCYTE COLONY-STIMULATING FACTOR
Authors: PIVA E DETONI S BOVO C BORDUGO A BURLINA AB PLEBANI M
Citation: E. Piva et al., NADPH OXIDASE ACTIVITY AND CHEMOTAXIS BY NEUTROPHILS IN 2 PATIENTS WITH GLYCOGEN-STORAGE-DISEASE TYPE IB TREATED WITH RECOMBINANT HUMAN GRANULOCYTE-MONOCYTE COLONY-STIMULATING FACTOR, Haematologica, 81(2), 1996, pp. 148-151
CLINICAL COURSE, EARLY DIAGNOSIS, TREATMENT, AND PREVENTION OF DISEASE IN GLUTARYL-COA DEHYDROGENASE-DEFICIENCY
Authors: HOFFMANN GF ATHANASSOPOULOS S BURLINA AB DURAN M DEKLERK JBC LEHNERT W LEONARD JV MONAVARI AA MULLER E MUNTAU AC NAUGHTEN ER PLECKOSTARTING B SUPERTIFURGA A ZSCHOCKE J CHRISTENSEN E
Citation: Gf. Hoffmann et al., CLINICAL COURSE, EARLY DIAGNOSIS, TREATMENT, AND PREVENTION OF DISEASE IN GLUTARYL-COA DEHYDROGENASE-DEFICIENCY, Neuropediatrics, 27(3), 1996, pp. 115-123
RESPIRATORY-CHAIN AND PYRUVATE METABOLISM DEFECTS - ITALIAN COLLABORATIVE SURVEY ON 72 PATIENTS
Authors: CARUSO U ADAMI A BERTINI E BURLINA AB CARNEVALE F CERONE R DIONISIVICI C GIORDANO G LEUZZI E PARENTI G SAVASTA S UZIEL G ZEVIANI M
Citation: U. Caruso et al., RESPIRATORY-CHAIN AND PYRUVATE METABOLISM DEFECTS - ITALIAN COLLABORATIVE SURVEY ON 72 PATIENTS, Journal of inherited metabolic disease, 19(2), 1996, pp. 143-148
INCREASED PLASMA BIOTINIDASE ACTIVITY IN PATIENTS WITH GLYCOGEN-STORAGE-DISEASE TYPE IA - EFFECT OF BIOTIN SUPPLEMENTATION
Authors: BURLINA AB DERMIKOL M MANTAU A PIOVAN S GRAZIAN L ZACCHELLO F SHIN Y
Citation: Ab. Burlina et al., INCREASED PLASMA BIOTINIDASE ACTIVITY IN PATIENTS WITH GLYCOGEN-STORAGE-DISEASE TYPE IA - EFFECT OF BIOTIN SUPPLEMENTATION, Journal of inherited metabolic disease, 19(2), 1996, pp. 209-212
MULTIPLE-SCLEROSIS IN GLYCOGEN-STORAGE-DISEASE TYPE-III (GSD-III)
Authors: BURLINA AB PIOVAN S GRAZIAN L ZACCHELLO F
Citation: Ab. Burlina et al., MULTIPLE-SCLEROSIS IN GLYCOGEN-STORAGE-DISEASE TYPE-III (GSD-III), Pediatric research, 39(4), 1996, pp. 842-842
MITOCHONDRIAL SHORT-CHAIN L-3-HYDROXYACYL-COENZYME A DEHYDROGENASE-DEFICIENCY - A NEW DEFECT OF FATTY-ACID OXIDATION
Authors: BENNETT MJ WEINBERGER MJ KOBORI JA RINALDO P BURLINA AB
Citation: Mj. Bennett et al., MITOCHONDRIAL SHORT-CHAIN L-3-HYDROXYACYL-COENZYME A DEHYDROGENASE-DEFICIENCY - A NEW DEFECT OF FATTY-ACID OXIDATION, Pediatric research, 39(1), 1996, pp. 185-188
HYPOPARATHYROIDISM IN MITOCHONDRIAL TRIFUNCTIONAL PROTEIN-DEFICIENCY
Authors: DIONISIVICI C GARAVAGLIA B BURLINA AB BERTINI E SAPONARA I SABETTA G TARONI F
Citation: C. Dionisivici et al., HYPOPARATHYROIDISM IN MITOCHONDRIAL TRIFUNCTIONAL PROTEIN-DEFICIENCY, The Journal of pediatrics, 129(1), 1996, pp. 159-162
ROLE OF DIALYSIS IN THE TREATMENT OF CHIL DREN WITH ACUTE DECOMPENSATION IN CONGENITAL METABOLIC DISORDERS
Authors: BARTULI A PICCA S VICI CD GRECO M DELLOSTROLOGO L BURLINA AB SABETTA G RIZZONI G
Citation: A. Bartuli et al., ROLE OF DIALYSIS IN THE TREATMENT OF CHIL DREN WITH ACUTE DECOMPENSATION IN CONGENITAL METABOLIC DISORDERS, Rivista italiana di pediatria, 21, 1995, pp. 93-98
MEDIUM-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY PRESENTING IN THE NEONATAL-PERIOD - THE FIRST ITALIAN CASE
Authors: BURLINA AB BENNETT MJ GREGERSEN N BARBA BD ZACCHELLO F
Citation: Ab. Burlina et al., MEDIUM-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY PRESENTING IN THE NEONATAL-PERIOD - THE FIRST ITALIAN CASE, European journal of pediatrics, 154(11), 1995, pp. 940-941
ACUTE-PANCREATITIS IN PROPIONIC ACIDEMIA
Authors: BURLINA AB DIONISIVICI C PIOVAN S SAPONARA I BARTULI A SABETTA G ZACCHELLO F
Citation: Ab. Burlina et al., ACUTE-PANCREATITIS IN PROPIONIC ACIDEMIA, Journal of inherited metabolic disease, 18(2), 1995, pp. 169-172
MITOCHONDRIAL TRIFUNCTIONAL PROTEIN-DEFICIENCY AND HYPOPARATHYROIDISM
Authors: DIONISIVICI C SAPONARA I BURLINA AB GARAVAGLIA B DIDONATO S PICCA S BERTINI E SABETTA G
Citation: C. Dionisivici et al., MITOCHONDRIAL TRIFUNCTIONAL PROTEIN-DEFICIENCY AND HYPOPARATHYROIDISM, Pediatric research, 37(4), 1995, pp. 147-147
VARIABLE CLINICAL PRESENTATIONS OF GLUTARIC ACIDURIA TYPE-II
Authors: BURLINA AB PIOVAN S GRAZIAN L ZACCHELLO F WEINBERGER M BENNETT MJ
Citation: Ab. Burlina et al., VARIABLE CLINICAL PRESENTATIONS OF GLUTARIC ACIDURIA TYPE-II, Pediatric research, 37(4), 1995, pp. 376-376
A MISSENSE MUTATION IN A PATIENT WITH GUANOSINE TRIPHOSPHATE CYCLOHYDROLASE-I DEFICIENCY MISSED IN THE NEWBORN SCREENING-PROGRAM
Authors: BLAU N ICHINOSE H NAGATSU T HEIZMANN CW ZACCHELLO F BURLINA AB
Citation: N. Blau et al., A MISSENSE MUTATION IN A PATIENT WITH GUANOSINE TRIPHOSPHATE CYCLOHYDROLASE-I DEFICIENCY MISSED IN THE NEWBORN SCREENING-PROGRAM, The Journal of pediatrics, 126(3), 1995, pp. 401-405
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
DETECTION OF INCREASED URINARY N-ACETYLASPARTYLGLUTAMATE IN CANAVAN DISEASE
Authors: BURLINA AP CORAZZA A FERRARI V ERHARD P KUNNECKE B SEELIG J BURLINA AB
Citation: Ap. Burlina et al., DETECTION OF INCREASED URINARY N-ACETYLASPARTYLGLUTAMATE IN CANAVAN DISEASE, European journal of pediatrics, 153(7), 1994, pp. 538-539
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
SECONDARY 3-HYDROXYDICARBOXYLIC ACIDURIA MIMICKING LONG-CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE-DEFICIENCY
Authors: BENNETT MJ WEINBERGER MJ SHERWOOD WG BURLINA AB
Citation: Mj. Bennett et al., SECONDARY 3-HYDROXYDICARBOXYLIC ACIDURIA MIMICKING LONG-CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE-DEFICIENCY, Journal of inherited metabolic disease, 17(3), 1994, pp. 283-286
INVOLVEMENT OF ERYTHROCYTE CALPAIN IN GLYCINE-TREATED AND CARNITINE-TREATED ISOVALERIC ACIDEMIA
Authors: SALAMINO F DILISA F BURLINA AB MENABO R BARBATO R DETULLIO R SILIPRANDI N
Citation: F. Salamino et al., INVOLVEMENT OF ERYTHROCYTE CALPAIN IN GLYCINE-TREATED AND CARNITINE-TREATED ISOVALERIC ACIDEMIA, Pediatric research, 36(2), 1994, pp. 182-186
Risultati: 1-25 | 26-34