Results: 1-25 | 26-33
Results: 1-25/33

Authors: GREGERSEN N WINTER VS CORYDON MJ CORYDON TJ RINALDO P RIBES A MARTINEZ G BENNETT MJ VIANEYSABAN C BHALA A HALE DE LEHNERT W KMOCH S ROIG M RIUDOR E EIBERG H ANDRESEN BS BROSS P BOLUND LA KOLVRAA S
Citation: N. Gregersen et al., IDENTIFICATION OF 4 NEW MUTATIONS IN THE SHORT-CHAIN ACYL-COA DEHYDROGENASE (SCAD) GENE IN 2 PATIENTS - ONE OF THE VARIANT ALLELES, 511C-]T, IS PRESENT AT AN UNEXPECTEDLY HIGH-FREQUENCY IN THE GENERAL-POPULATION, AS WAS THE CASE FOR 625G-]A, TOGETHER CONFERRING SUSCEPTIBILITY TOETHYLMALONIC ACIDURIA, Human molecular genetics, 7(4), 1998, pp. 619-627

Authors: RIUDOR E ARRANZ JA ANGUERA R SALCEDO S ROIG M DELTORO M BAHIMA C MARTINEZ G RIBES A VIANEYSABAN C SENTIS M
Citation: E. Riudor et al., NEONATAL MEDIUM-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY PRESENTING WITH VERY HIGH CREATINE-KINASE LEVELS, Journal of inherited metabolic disease, 21(6), 1998, pp. 673-674

Authors: FONTAINE M BRIAND G LARGILLIERE C DEGAND P DIVRY P VIANEYSABAN C MOUSSON B VAMECQ J
Citation: M. Fontaine et al., METABOLIC STUDIES IN A PATIENT WITH SEVERE CARNITINE PALMITOYLTRANSFERASE TYPE-II DEFICIENCY, Clinica chimica acta, 273(2), 1998, pp. 161-170

Authors: VIANEYSABAN C DIVRY P BRIVET M NADA M ZABOT MT MATHIEU M ROE C
Citation: C. Vianeysaban et al., MITOCHONDRIAL VERY-LONG-CHAIN ACYL-COENZYME-A DEHYDROGENASE-DEFICIENCY - CLINICAL CHARACTERISTICS AND DIAGNOSTIC CONSIDERATIONS IN 30 PATIENTS, Clinica chimica acta, 269(1), 1998, pp. 43-62

Authors: DELOLME F VIANEYSABAN C GUFFON N FAVREBONVIN J GUIBAUD P BECCHI M MATHIEU M DIVRY P
Citation: F. Delolme et al., DIAGNOSIS OF INBORN-ERRORS OF METABOLISM BY ACYLCARNITINES PROFILING IN BLOOD USING TANDEM MASS-SPECTROMETRY, Archives de pediatrie, 4(9), 1997, pp. 819-826

Authors: VIANEYSABAN C GUFFON N DELOLNE F GUIBAUD P MATHIEU M DIVRY P
Citation: C. Vianeysaban et al., DIAGNOSIS OF INBORN-ERRORS OF METABOLISM BY ACYLCARNITINE PROFILING IN BLOOD USING TANDEM MASS-SPECTROMETRY, Journal of inherited metabolic disease, 20(3), 1997, pp. 411-414

Authors: BAERLOCHER KE STEINMANN B AGUZZI A KRAHENBUHL S ROE CR VIANEYSABAN C
Citation: Ke. Baerlocher et al., SHORT-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY IN A 16-YEAR-OLD GIRL WITH SEVERE MUSCLE WASTING AND SCOLIOSIS, Journal of inherited metabolic disease, 20(3), 1997, pp. 427-431

Authors: ADHAM M SAB JM DUCERF C TASSAUX D VIANEYSABAN C CHEVALLIER M DELAROCHE E LE QV BIZOLLON T BARAKAT C DEBIZE G VERNET M POUYET M BAULIEUX J
Citation: M. Adham et al., CORRECTION OF ACUTE LIVER-CELL FAILURE DISORDERS THROUGH LIVER XENOPERFUSION - EXPERIMENTAL-STUDY, Transplantation proceedings, 29(7), 1997, pp. 3013-3014

Authors: ADHAM M VIANEYSABAN C DUCERF C BOYER S DELAROCHE E TAIBI A POUYET M BAULIEUX J
Citation: M. Adham et al., PLASMA AMINO-ACID STUDY DURING DISCORDANT LIVER XENOPERFUSION, Transplantation proceedings, 29(7), 1997, pp. 3016-3016

Authors: SLUYSMANS T TUERLINCKX D HUBINONT C VERELLENDUMOULIN C BRIVET M VIANEYSABAN C
Citation: T. Sluysmans et al., VERY LONG-CHAIN ACYL-COENZYME-A DEHYDROGENASE-DEFICIENCY IN 2 SIBLINGS - EVOLUTION AFTER PRENATAL-DIAGNOSIS AND PROMPT MANAGEMENT, The Journal of pediatrics, 131(3), 1997, pp. 444-446

Authors: MARTINEZ G JIMENEZSANCHEZ G DIVRY P VIANEYSABAN C RIUDOR E RODES M BRIONES P RIBES A
Citation: G. Martinez et al., PLASMA-FREE FATTY-ACIDS IN MITOCHONDRIAL FATTY-ACID OXIDATION DEFECTS, Clinica chimica acta, 267(2), 1997, pp. 143-154

Authors: BROWNHARRISON MC NADA MA SPRECHER H VIANEYSABAN C FARQUHAR J GILLADOGA AC ROE CR
Citation: Mc. Brownharrison et al., VERY LONG-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY - SUCCESSFUL TREATMENT OF ACUTE CARDIOMYOPATHY, Biochemical and molecular medicine, 58(1), 1996, pp. 59-65

Authors: ANDRESEN BS BROSS P VIANEYSABAN C DIVRY P ZABOT MT ROE CR NADA MA BYSKOV A KRUSE TA NEVE S KRISTIANSEN K KNUDSEN I CORYDON MJ GREGERSON N
Citation: Bs. Andresen et al., CLONING AND CHARACTERIZATION OF HUMAN VERY-LONG-CHAIN ACYL-COA DEHYDROGENASE CDNA, CHROMOSOMAL ASSIGNMENT OF THE GENE AND IDENTIFICATION IN4 PATIENTS OF 9 DIFFERENT MUTATIONS WITHIN THE VLCAD GENE (VOL 5, PG 461, 1996), Human molecular genetics, 5(9), 1996, pp. 1390-1390

Authors: ANDRESEN BS BROSS P VIANEYSABAN C DIVRY P ZABOT MT ROE CR NADA MA BYSKOV A KRUSE TA NEVE S KRISTIANSEN K KNUDSEN I CORYDON MJ GREGERSEN N
Citation: Bs. Andresen et al., CLONING AND CHARACTERIZATION OF HUMAN VERY-LONG-CHAIN ACYL-COA DEHYDROGENASE CDNA, CHROMOSOMAL ASSIGNMENT OF THE GENE AND IDENTIFICATION IN4 PATIENTS OF 9 DIFFERENT MUTATIONS WITHIN THE VLCAD GENE, Human molecular genetics, 5(4), 1996, pp. 461-472

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

Authors: PARNET JM DIVRY P VIANEYSABAN C MATHIEU M
Citation: Jm. Parnet et al., STABLE-ISOTOPE SELECTED-ION MONITORING QUANTIFICATION OF METHYLMALONIC ACID IN DRIED FILTER-PAPER URINE SAMPLES, Journal of inherited metabolic disease, 19(5), 1996, pp. 635-637

Authors: MARTINS E COSTA A SILVA E MEDINA M CARDOSO ML VIANEYSABAN C DIVRY P VILARINHO L
Citation: E. Martins et al., LETHAL DILATED CARDIOMYOPATHY DUE TO LONG-CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE-DEFICIENCY, Journal of inherited metabolic disease, 19(3), 1996, pp. 373-374

Authors: ANDRESEN BS VIANEYSABAN C BROSS P DIVRY P ROE CR NADA MA KNUDSEN I GREGERSEN N
Citation: Bs. Andresen et al., THE MUTATIONAL SPECTRUM IN VERY LONG-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY, Journal of inherited metabolic disease, 19(2), 1996, pp. 169-172

Authors: MERINERO B PEREZCERDA C GARCIA MJ GANGOITI J FONT LM SILVA MTG VIANEYSABAN C DURAN M UGARTE M
Citation: B. Merinero et al., MITOCHONDRIAL VERY LONG-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY WITH A MILD CLINICAL COURSE, Journal of inherited metabolic disease, 19(2), 1996, pp. 173-176

Authors: FONTAINE M BRIAND G VALLEE L RICART G DEGAND P DIVRY P VIANEYSABAN C VAMECQ J
Citation: M. Fontaine et al., ACYLCARNITINE REMOVAL IN A PATIENT WITH ACYL-COA BETA-OXIDATION DEFICIENCY DISORDER - EFFECT UF L-CARNITINE THERAPY AND STARVATION, Clinica chimica acta, 252(2), 1996, pp. 109-122

Authors: VIANEYSABAN C STREMLER N PAUT O BUTTIN T DIVRY P ZABOT MT CAMBOULIVES J MATHIEU M MOUSSON B
Citation: C. Vianeysaban et al., INFANTILE FORM OF CARNITINE PALMITOYLTRANSFERASE-II DEFICIENCY IN A GIRL WITH RAPID FATAL ONSET, Journal of inherited metabolic disease, 18(3), 1995, pp. 362-363

Authors: GUFFON N VIANEYSABAN C BOURGEOIS J RABIER D COLOMBO JP GUIBAUD P
Citation: N. Guffon et al., A NEW NEONATAL CASE OF N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY TREATED BY CARBAMYLGLUTAMATE, Journal of inherited metabolic disease, 18(1), 1995, pp. 61-65

Authors: LARGILLIERE C VIANEYSABAN C FONTAINE M BERTRAND C KACET N FARRIAUX JP
Citation: C. Largilliere et al., MITOCHONDRIAL VERY LONG-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY - A NEW DISORDER OF FATTY-ACID OXIDATION, Archives of Disease in Childhood, 73(2), 1995, pp. 103-105

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

Authors: VALLEE L FONTAINE M NUYTS JP RICART G KRIVOSIC I DIVRY P VIANEYSABAN C LHERMITTE M VAMECQ J
Citation: L. Vallee et al., STROKE, HEMIPARESIS AND DEFICIENT MITOCHONDRIAL BETA-OXIDATION, European journal of pediatrics, 153(8), 1994, pp. 598-603
Risultati: 1-25 | 26-33