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Results: 1-13 |
Results: 13
SUCCINYL-COA - ACETOACETATE TRANSFERASE DEFICIENCY - IDENTIFICATION OF A NEW CASE - PRENATAL EXCLUSION IN 3 FURTHER PREGNANCIES
Authors: ROLLAND MO GUFFON N MANDON G DIVRY P
Citation: Mo. Rolland et al., SUCCINYL-COA - ACETOACETATE TRANSFERASE DEFICIENCY - IDENTIFICATION OF A NEW CASE - PRENATAL EXCLUSION IN 3 FURTHER PREGNANCIES, Journal of inherited metabolic disease, 21(6), 1998, pp. 687-688
EXPRESSION OF OXIDATIVE-PHOSPHORYLATION GENES IN MUSCLE-CELL CULTURESFROM PATIENTS WITH MITOCHONDRIAL MYOPATHIES
Authors: COLLOMBET JM FAUREVIGNY H MANDON G DUMOULIN R BOISSIER S BERNARD A MOUSSON B STEPIEN G
Citation: Jm. Collombet et al., EXPRESSION OF OXIDATIVE-PHOSPHORYLATION GENES IN MUSCLE-CELL CULTURESFROM PATIENTS WITH MITOCHONDRIAL MYOPATHIES, Molecular and cellular biochemistry, 168(1-2), 1997, pp. 73-85
PRENATAL-DIAGNOSIS OF MITOCHONDRIAL FATTY-ACID OXIDATION DEFECTS
Authors: NADA MA VIANEYSABAN C ROE CR DING JH MATHIEU M WAPPNER RS BIALER MG MCGLYNN JA MANDON G
Citation: Ma. Nada et al., PRENATAL-DIAGNOSIS OF MITOCHONDRIAL FATTY-ACID OXIDATION DEFECTS, Prenatal diagnosis, 16(2), 1996, pp. 117-124
ACCUMULATION OF MITOCHONDRIAL-DNA DELETIONS IN MYOTUBES CULTURED FROMMUSCLES OF PATIENTS WITH MITOCHONDRIAL MYOPATHIES
Authors: COLLOMBET JM MANDON G DUMOULIN R MOUSSON B STEPIEN G
Citation: Jm. Collombet et al., ACCUMULATION OF MITOCHONDRIAL-DNA DELETIONS IN MYOTUBES CULTURED FROMMUSCLES OF PATIENTS WITH MITOCHONDRIAL MYOPATHIES, MGG. Molecular & general genetics, 253(1-2), 1996, pp. 182-188
RECURRENT MYOGLOBINURIA DUE TO CARNITINE PALMITOYLTRANSFERASE-II DEFICIENCY - EXPRESSION OF THE MOLECULAR PHENOTYPE IN CULTURED MUSCLE-CELLS
Authors: VILLARD J FISCHER A MANDON G COLLOMBET JM TARONI F MOUSSON B
Citation: J. Villard et al., RECURRENT MYOGLOBINURIA DUE TO CARNITINE PALMITOYLTRANSFERASE-II DEFICIENCY - EXPRESSION OF THE MOLECULAR PHENOTYPE IN CULTURED MUSCLE-CELLS, Journal of the neurological sciences, 136(1-2), 1996, pp. 178-181
AMNIOTIC-FLUID FOR SCREENING OF LYSOSOMAL STORAGE DISEASES PRESENTINGIN-UTERO (MAINLY AS NONIMMUNE HYDROPS-FETALIS)
Authors: PIRAUD M FROISSART R MANDON G BERNARD A MAIRE I
Citation: M. Piraud et al., AMNIOTIC-FLUID FOR SCREENING OF LYSOSOMAL STORAGE DISEASES PRESENTINGIN-UTERO (MAINLY AS NONIMMUNE HYDROPS-FETALIS), Clinica chimica acta, 248(2), 1996, pp. 143-155
PRENATAL-DIAGNOSIS OF VERY LONG-CHAIN ACYL-COA DEHYDROGENASE (VLCAD) DEFICIENCY
Authors: BIALER MG NADA MA VIANEYSABAN C ROE CR MATHIEU M MCGLYNN JA DING JH MANDON G SLONIM AE
Citation: Mg. Bialer et al., PRENATAL-DIAGNOSIS OF VERY LONG-CHAIN ACYL-COA DEHYDROGENASE (VLCAD) DEFICIENCY, American journal of human genetics, 57(4), 1995, pp. 1600-1600
UNRELIABLE VERIFICATION OF PRENATAL-DIAGNOSIS OF CANAVAN DISEASE - ASPARTOACYLASE ACTIVITY IN DEFICIENT AND NORMAL FETAL SKIN FIBROBLASTS
Authors: ROLLAND MO MANDON G BERNARD A ZABOT MT MATHIEU M
Citation: Mo. Rolland et al., UNRELIABLE VERIFICATION OF PRENATAL-DIAGNOSIS OF CANAVAN DISEASE - ASPARTOACYLASE ACTIVITY IN DEFICIENT AND NORMAL FETAL SKIN FIBROBLASTS, Journal of inherited metabolic disease, 17(6), 1994, pp. 748-748
1ST-TRIMESTER PRENATAL-DIAGNOSIS OF NONKETOTIC HYPERGLYCINEMIA BY A MICROASSAY OF GLYCINE CLEAVAGE ENZYME
Authors: ROLLAND MO MANDON G MATHIEU M
Citation: Mo. Rolland et al., 1ST-TRIMESTER PRENATAL-DIAGNOSIS OF NONKETOTIC HYPERGLYCINEMIA BY A MICROASSAY OF GLYCINE CLEAVAGE ENZYME, Prenatal diagnosis, 13(8), 1993, pp. 771-772
HUMAN CULTURED MYOBLASTS - A MODEL FOR THE DIAGNOSIS OF MITOCHONDRIALDISEASES
Authors: DUMOULIN R MANDON G COLLOMBET JM BLOND JL CARRIER H GODINOT C FLOCARD F VILLARD J GUIBAUD P MATHIEU M MOUSSON B
Citation: R. Dumoulin et al., HUMAN CULTURED MYOBLASTS - A MODEL FOR THE DIAGNOSIS OF MITOCHONDRIALDISEASES, Journal of inherited metabolic disease, 16(3), 1993, pp. 545-547
1ST-TRIMESTER PRENATAL-DIAGNOSIS OF CANAVAN DISEASE
Authors: ROLLAND MO DIVRY P MANDON G THOULON JM FIUMARA A MATHIEU M
Citation: Mo. Rolland et al., 1ST-TRIMESTER PRENATAL-DIAGNOSIS OF CANAVAN DISEASE, Journal of inherited metabolic disease, 16(3), 1993, pp. 581-583
2ND TRIMESTER PRENATAL-DIAGNOSIS OF SANFILIPPO SYNDROME TYPE-C
Authors: MAIRE I EPELBAUM S PIRAUD M MANDON G DUMOULIN R MATHIEU M
Citation: I. Maire et al., 2ND TRIMESTER PRENATAL-DIAGNOSIS OF SANFILIPPO SYNDROME TYPE-C, Journal of inherited metabolic disease, 16(3), 1993, pp. 584-586
EXPRESSION OF OXIDATIVE-PHOSPHORYLATION GENES IN MYOBLASTS AND MYOTUBES FROM PATIENTS WITH MITOCHONDRIAL PATHOLOGIES
Authors: STEPIEN G VIGNY H MANDON G DUMOULIN R MOUSSON B COLLOMBET JM
Citation: G. Stepien et al., EXPRESSION OF OXIDATIVE-PHOSPHORYLATION GENES IN MYOBLASTS AND MYOTUBES FROM PATIENTS WITH MITOCHONDRIAL PATHOLOGIES, American journal of human genetics, 53(3), 1993, pp. 158-158
Risultati: 1-13 |