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Results: 1-21 |
Results: 21
IDENTIFICATION OF THE GENETIC-DEFECT IN A VARIANT OF CDG SYNDROME TYPE-I - MUTATIONS IN THE PMI GENE RESULT IN A SEVERE, BUT POTENTIALLY TREATABLE DISORDER
Authors: MATTHIJS G SCHOLLEN E SAUDUBRAY JM DELONLAY P DIONISIVICI C BERTINI E HENRI H CASSIMAN JJ JAEKEN J VANSCHAFTINGEN E
Citation: G. Matthijs et al., IDENTIFICATION OF THE GENETIC-DEFECT IN A VARIANT OF CDG SYNDROME TYPE-I - MUTATIONS IN THE PMI GENE RESULT IN A SEVERE, BUT POTENTIALLY TREATABLE DISORDER, European journal of human genetics, 6, 1998, pp. 5006-5006
ATAXIA-DEAFNESS-LEUKODYSTROPHY - A NEW INHERITED DISORDER OF THE WHITE-MATTER
Authors: LEUZZI V RINNA A GALLUCCI M DIONISIVICI C BERTINI E
Citation: V. Leuzzi et al., ATAXIA-DEAFNESS-LEUKODYSTROPHY - A NEW INHERITED DISORDER OF THE WHITE-MATTER, Annals of neurology, 44(3), 1998, pp. 37-37
INTRAVENOUS IMMUNE GLOBULIN IN LYSINURIC PROTEIN INTOLERANCE
Authors: DIONISIVICI C DEFELICE L ELHACHEM M BOTTERO S RIZZO C PAOLONI A GOFFREDO B SABETTA G CANIGLIA M
Citation: C. Dionisivici et al., INTRAVENOUS IMMUNE GLOBULIN IN LYSINURIC PROTEIN INTOLERANCE, Journal of inherited metabolic disease, 21(2), 1998, pp. 95-102
FULMINANT LEIGH-SYNDROME AND SUDDEN UNEXPECTED DEATH IN A FAMILY WITHTHE T9176C MUTATION OF THE MITOCHONDRIAL ATPASE-6-GENE
Authors: DIONISIVICI C SENECA S ZEVIANI M FARIELLO G RIMOLDI M BERTINI E DEMEIRLEIR L
Citation: C. Dionisivici et al., FULMINANT LEIGH-SYNDROME AND SUDDEN UNEXPECTED DEATH IN A FAMILY WITHTHE T9176C MUTATION OF THE MITOCHONDRIAL ATPASE-6-GENE, Journal of inherited metabolic disease, 21(1), 1998, pp. 2-8
MILD TRIFUNCTIONAL PROTEIN-DEFICIENCY IS ASSOCIATED WITH PROGRESSIVE NEUROPATHY AND MYOPATHY AND SUGGESTS A NOVEL GENOTYPE-PHENOTYPE CORRELATION
Authors: IBDAH JA TEIN I DIONISIVICI C BENNETT MJ IJLST L GIBSON B WANDERS RJA STRAUSS AW
Citation: Ja. Ibdah et al., MILD TRIFUNCTIONAL PROTEIN-DEFICIENCY IS ASSOCIATED WITH PROGRESSIVE NEUROPATHY AND MYOPATHY AND SUGGESTS A NOVEL GENOTYPE-PHENOTYPE CORRELATION, The Journal of clinical investigation, 102(6), 1998, pp. 1193-1199
A GENE ON CHROMOSOME 11Q23 CODING FOR A PUTATIVE GLUCOSE-6-PHOSPHATE TRANSLOCASE IS MUTATED IN GLYCOGEN-STORAGE-DISEASE TYPES IB AND IC
Authors: VEIGADACUNHA M GERIN I CHEN YT DEBARSY T DELONLAY P DIONISIVICI C FENSKE CD LEE PJ LEONARD JV MAIRE I MCCONKIEROSELL A SCHWEITZER S VIKKULA M VANSCHAFTINGEN E
Citation: M. Veigadacunha et al., A GENE ON CHROMOSOME 11Q23 CODING FOR A PUTATIVE GLUCOSE-6-PHOSPHATE TRANSLOCASE IS MUTATED IN GLYCOGEN-STORAGE-DISEASE TYPES IB AND IC, American journal of human genetics, 63(4), 1998, pp. 976-983
PHOSPHOMANNOSE ISOMERASE DEFICIENCY - A CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME WITH HEPATIC-INTESTINAL PRESENTATION
Authors: JAEKEN J MATTHIJS G SAUDUBRAY JM DIONISIVICI C BERTINI E DELONLAY P HENRI H CARCHON H SCHOLLEN E VANSCHAFTINGEN E
Citation: J. Jaeken et al., PHOSPHOMANNOSE ISOMERASE DEFICIENCY - A CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME WITH HEPATIC-INTESTINAL PRESENTATION, American journal of human genetics, 62(6), 1998, pp. 1535-1539
NEW FAMILIAL MITOCHONDRIAL ENCEPHALOPATHY WITH MACROCEPHALY, CARDIOMYOPATHY, AND COMPLEX-I DEFICIENCY
Authors: DIONISIVICI C RUITENBEEK W FARIELLO G BENTLAGE H WANDERS RJA SCHAGGER H BOSMAN C PIANTADOSI C SABETTA G BERTINI E
Citation: C. Dionisivici et al., NEW FAMILIAL MITOCHONDRIAL ENCEPHALOPATHY WITH MACROCEPHALY, CARDIOMYOPATHY, AND COMPLEX-I DEFICIENCY, Annals of neurology, 42(4), 1997, pp. 661-665
CRANIAL ULTRASONOGRAPHY IN MAPLE-SYRUP-URINE-DISEASE
Authors: FARIELLO G DIONISIVICI C ORAZI C MALENA S BARTULI A SCHINGO P CARNEVALE E SAPONARA I SABETTA G
Citation: G. Fariello et al., CRANIAL ULTRASONOGRAPHY IN MAPLE-SYRUP-URINE-DISEASE, American journal of neuroradiology, 17(2), 1996, pp. 311-315
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
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
MITOCHONDRIAL TRIFUNCTIONAL PROTEIN-DEFICIENCY - CLINICAL AND BIOCHEMICAL FINDINGS IN POUR PATIENTS
Authors: DIONISIVICI C GARAVAGLIA B BURLINA A BERTINI E WANDERS RJA HASHIMOTO T SABETTA G INVERNIZZI F TARONI F DIDONATO S
Citation: C. Dionisivici et al., MITOCHONDRIAL TRIFUNCTIONAL PROTEIN-DEFICIENCY - CLINICAL AND BIOCHEMICAL FINDINGS IN POUR PATIENTS, Annals of neurology, 38(3), 1995, pp. 544-544
MOLECULAR PRENATAL-DIAGNOSIS OF 3-HYDROXY-3-METHYLGLUTARYL COA LYASE DEFICIENCY
Authors: MITCHELL GA JAKOBS C GIBSON KM ROBERT MF BURLINA A DIONISIVICI C DALLAIRE L
Citation: Ga. Mitchell et al., MOLECULAR PRENATAL-DIAGNOSIS OF 3-HYDROXY-3-METHYLGLUTARYL COA LYASE DEFICIENCY, Prenatal diagnosis, 15(8), 1995, pp. 725-729
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
NEONATAL PRIMARY HYPERPARATHYROIDISM MASKED BY VITAMIN-D DEFICIENCY
Authors: MEERAN K HUSAIN M PUCCINI M SCOTT H DIONISIVICI C HARVEY DR LYNN J THAKKER RV
Citation: K. Meeran et al., NEONATAL PRIMARY HYPERPARATHYROIDISM MASKED BY VITAMIN-D DEFICIENCY, Clinical endocrinology, 41(4), 1994, pp. 531-534
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
A NOVEL MITOCHONDRIAL ENCEPHALOPATHY OCULOPATHY CARDIOPATHY MYOPATHY WITH ABNORMAL ORGANIC ACIDURIA AND COMBINED COMPLEX-1 AND COMPLEX-IV RESPIRATORY-CHAIN ENZYME DEFICIENCY
Authors: DIONISIVICI C BERTINI E SABETTA G SAPONARA I SERVIDEI S BENNETT MJ BURLINA AB
Citation: C. Dionisivici et al., A NOVEL MITOCHONDRIAL ENCEPHALOPATHY OCULOPATHY CARDIOPATHY MYOPATHY WITH ABNORMAL ORGANIC ACIDURIA AND COMBINED COMPLEX-1 AND COMPLEX-IV RESPIRATORY-CHAIN ENZYME DEFICIENCY, Pediatric research, 35(4), 1994, pp. 10000201-10000201
N-ACETYLASPARTYLGLUTAMATE IN URINE AND CSF IN CANAVAN DISEASE
Authors: BURLINA AB FERRARI V DIONISIVICI C ZACCHELLO F BURLINA AP
Citation: Ab. Burlina et al., N-ACETYLASPARTYLGLUTAMATE IN URINE AND CSF IN CANAVAN DISEASE, Pediatric research, 35(4), 1994, pp. 10000379-10000379
A NEW SYNDROME WITH ETHYLMALONIC ACIDURIA AND NORMAL FATTY-ACID OXIDATION IN FIBROBLASTS
Authors: BURLINA AB DIONISIVICI C BENNETT MJ GIBSON KM SERVIDEI S BERTINI E HALE DE SCHMIDTSOMMERFELD E SABETTA G ZACCHELLO F RINALDO P
Citation: Ab. Burlina et al., A NEW SYNDROME WITH ETHYLMALONIC ACIDURIA AND NORMAL FATTY-ACID OXIDATION IN FIBROBLASTS, The Journal of pediatrics, 124(1), 1994, pp. 79-86
CEREBRO-RENO-DIGITAL (MECKEL-LIKE) SYNDROME WITH DANDY-WALKER MALFORMATION, CYSTIC KIDNEYS, HEPATIC-FIBROSIS, AND POLYDACTYLY
Authors: GENUARDI M DIONISIVICI C SABETTA G MIGNOZZI M RIZZONI G COTUGNO G NERI MEM
Citation: M. Genuardi et al., CEREBRO-RENO-DIGITAL (MECKEL-LIKE) SYNDROME WITH DANDY-WALKER MALFORMATION, CYSTIC KIDNEYS, HEPATIC-FIBROSIS, AND POLYDACTYLY, American journal of medical genetics, 47(1), 1993, pp. 50-53
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