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Results: 1-19 |
Results: 19
IDENTIFICATION OF 4 NOVEL MUTATIONS IN PATIENTS WITH CARNITINE PALMITOYLTRANSFERASE-II (CPT II) DEFICIENCY
Authors: YANG BZ DING JH DEWESE T ROE D HE GC WILKINSON J DAY DW DEMAUGRE F RABIER D BRIVET M ROE C
Citation: Bz. Yang et al., IDENTIFICATION OF 4 NOVEL MUTATIONS IN PATIENTS WITH CARNITINE PALMITOYLTRANSFERASE-II (CPT II) DEFICIENCY, MOLECULAR GENETICS AND METABOLISM, 64(4), 1998, pp. 229-236
A PATIENT WITH CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY WITH A MILD PHENOTYPE
Authors: MORRIS AAM OLPIN SE BRIVET M TURNBULL DM JONES RAK LEONARD JV
Citation: Aam. Morris et al., A PATIENT WITH CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY WITH A MILD PHENOTYPE, The Journal of pediatrics, 132(3), 1998, pp. 514-516
MITOCHONDRIAL VERY-LONG-CHAIN ACYL-COENZYME-A DEHYDROGENASE-DEFICIENCY - CLINICAL CHARACTERISTICS AND DIAGNOSTIC CONSIDERATIONS IN 30 PATIENTS
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
RECENT PROGRESS IN THE DIAGNOSIS OF NEONATAL AND INFANTILE DISEASES
Authors: SEVIN C MARTIN D RABIER D BRIVET M SAUDUBRAY JM
Citation: C. Sevin et al., RECENT PROGRESS IN THE DIAGNOSIS OF NEONATAL AND INFANTILE DISEASES, Archives de pediatrie, 4(10), 1997, pp. 1038-1040
IN-VIVO STABLE-ISOTOPE STUDIES IN 3 PATIENTS AFFECTED WITH MITOCHONDRIAL FATTY-ACID OXIDATION DISORDERS - LIMITED DIAGNOSTIC USE OF 1-C-13 FATTY-ACID BREATH TEST USING BOLUS TECHNIQUE
Authors: JAKOBS C KNEER J MARTIN D BOULLOCHE J BRIVET M POLLTHE BT SAUDUBRAY JM
Citation: C. Jakobs et al., IN-VIVO STABLE-ISOTOPE STUDIES IN 3 PATIENTS AFFECTED WITH MITOCHONDRIAL FATTY-ACID OXIDATION DISORDERS - LIMITED DIAGNOSTIC USE OF 1-C-13 FATTY-ACID BREATH TEST USING BOLUS TECHNIQUE, European journal of pediatrics, 156, 1997, pp. 78-82
VERY LONG-CHAIN ACYL-COENZYME-A DEHYDROGENASE-DEFICIENCY IN 2 SIBLINGS - EVOLUTION AFTER PRENATAL-DIAGNOSIS AND PROMPT MANAGEMENT
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
THE MUSCULAR FORM OF CARNITINE PALMITOYLTRANSFERASE-II (CPT-II) EXPOSES TO SEVERE CARDIAC DYSFUNCTION, DEPENDING ON THE TYPE OF CPT-II MUTATIONS
Authors: THUILLIER L SEVIN C DEMAUGRE F SAUDUBRAY JM RABIER D BRIVET M DROUIN V CADOUDAL M BONNEFONT JP
Citation: L. Thuillier et al., THE MUSCULAR FORM OF CARNITINE PALMITOYLTRANSFERASE-II (CPT-II) EXPOSES TO SEVERE CARDIAC DYSFUNCTION, DEPENDING ON THE TYPE OF CPT-II MUTATIONS, American journal of human genetics, 61(4), 1997, pp. 1529-1529
RETROSPECTIVE DIAGNOSIS OF CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY BY ACYLCARNITINE ANALYSIS IN THE PROBAND GUTHRIE CARD AND ENZYMATIC STUDIES IN THE PARENTS
Authors: BRIVET M SLAMA A MILLINGTON DS ROE CR DEMAUGRE F LEGRAND A BOUTRON A POGGI F SAUDUBRAY JM
Citation: M. Brivet et al., RETROSPECTIVE DIAGNOSIS OF CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY BY ACYLCARNITINE ANALYSIS IN THE PROBAND GUTHRIE CARD AND ENZYMATIC STUDIES IN THE PARENTS, Journal of inherited metabolic disease, 19(2), 1996, pp. 181-184
COMPLEMENTATION ANALYSIS OF CARNITINE PALMITOYLTRANSFERASE-I AND PALMITOYLTRANSFERASE-II DEFECTS
Authors: SLAMA A BRIVET M BOUTRON A LEGRAND A SAUDUBRAY JM DEMAUGRE F
Citation: A. Slama et al., COMPLEMENTATION ANALYSIS OF CARNITINE PALMITOYLTRANSFERASE-I AND PALMITOYLTRANSFERASE-II DEFECTS, Pediatric research, 40(4), 1996, pp. 542-546
MOLECULAR ANALYSIS OF CARNITINE PALMITOYLTRANSFERASE-II DEFICIENCY WITH HEPATOCARDIOMUSCULAR EXPRESSION
Authors: BONNEFONT JP TARONI F CAVADINI P CEPANEC C BRIVET M SAUDUBRAY JM LEROUX JP DEMAUGRE F
Citation: Jp. Bonnefont et al., MOLECULAR ANALYSIS OF CARNITINE PALMITOYLTRANSFERASE-II DEFICIENCY WITH HEPATOCARDIOMUSCULAR EXPRESSION, American journal of human genetics, 58(5), 1996, pp. 971-978
A PATIENT WITH LETHAL CARDIOMYOPATHY AND A CARNITINE ACYLCARNITINE TRANSLOCASE DEFICIENCY
Authors: NIEZENKONING KE VANSPRONSEN FJ IJLST L WANDERS RJA BRIVET M DURAN M REIJNGOUD DJ HEYMANS HSA SMIT GPA
Citation: Ke. Niezenkoning et al., A PATIENT WITH LETHAL CARDIOMYOPATHY AND A CARNITINE ACYLCARNITINE TRANSLOCASE DEFICIENCY, Journal of inherited metabolic disease, 18(2), 1995, pp. 230-232
DO CRITERIA EXIST FROM URINARY ORGANIC-ACIDS TO DISTINGUISH BETA-OXIDATION DEFECTS
Authors: RABIER D BARDET J PARVY P POGGI F BRIVET M SAUDUBRAY JM KAMOUN P
Citation: D. Rabier et al., DO CRITERIA EXIST FROM URINARY ORGANIC-ACIDS TO DISTINGUISH BETA-OXIDATION DEFECTS, Journal of inherited metabolic disease, 18(2), 1995, pp. 257-260
LATE-ONSET NEUROLOGIC COMPLICATIONS OF GA LACTOSEMIA IN 3 CASES
Authors: BOHU PA HANNEQUIN D HEMET C BRIVET M SAMSON Y AUGUSTIN P
Citation: Pa. Bohu et al., LATE-ONSET NEUROLOGIC COMPLICATIONS OF GA LACTOSEMIA IN 3 CASES, Revue neurologique, 151(2), 1995, pp. 136-138
NEONATAL HYPERAMMONEMIA CAUSED BY A DEFECT OF CARNITINE-ACYLCARNITINETRANSLOCASE
Authors: DEBAULNY HO SLAMA A TOUATI G TURNBULL DM POURFARZAM M BRIVET M
Citation: Ho. Debaulny et al., NEONATAL HYPERAMMONEMIA CAUSED BY A DEFECT OF CARNITINE-ACYLCARNITINETRANSLOCASE, The Journal of pediatrics, 127(5), 1995, pp. 723-728
RAPID DIAGNOSIS OF LONG-CHAIN AND MEDIUM-CHAIN FATTY-ACID OXIDATION DISORDERS USING LYMPHOCYTES
Authors: BRIVET M SLAMA A SAUDUBRAY JM LEGRAND A LEMONNIER A
Citation: M. Brivet et al., RAPID DIAGNOSIS OF LONG-CHAIN AND MEDIUM-CHAIN FATTY-ACID OXIDATION DISORDERS USING LYMPHOCYTES, Annals of clinical biochemistry, 32, 1995, pp. 154-159
LOW EFFICIENCY OF [C-14] GALACTOSE INCORPORATION BY GALACTOSEMIC SKINFIBROBLASTS - RELATIONSHIP WITH NEUROLOGICAL SEQUELAE
Authors: KADHOM N BAPTISTA J BRIVET M WOLFROM C GAUTIER M
Citation: N. Kadhom et al., LOW EFFICIENCY OF [C-14] GALACTOSE INCORPORATION BY GALACTOSEMIC SKINFIBROBLASTS - RELATIONSHIP WITH NEUROLOGICAL SEQUELAE, Biochemical medicine and metabolic biology, 52(2), 1994, pp. 140-144
DIAGNOSIS OF CARNITINE ACYLCARNITINE TRANSLOCASE DEFICIENCY BY COMPLEMENTATION ANALYSIS
Authors: BRIVET M SLAMA A OGIER H BOUTRON A DEMAUGRE F SAUDUBRAY JM LEMONNIER A
Citation: M. Brivet et al., DIAGNOSIS OF CARNITINE ACYLCARNITINE TRANSLOCASE DEFICIENCY BY COMPLEMENTATION ANALYSIS, Journal of inherited metabolic disease, 17(3), 1994, pp. 271-274
IS D-LACTATE USEFUL IN DETECTING ASCITIC FLUID INFECTION IN CIRRHOTIC-PATIENTS
Authors: PELLETIER G BRIVET M DUCREUX M BRIANTAIS MJ LEMONNIER A ETIENNE JP
Citation: G. Pelletier et al., IS D-LACTATE USEFUL IN DETECTING ASCITIC FLUID INFECTION IN CIRRHOTIC-PATIENTS, Gastroenterologie clinique et biologique, 17(4), 1993, pp. 304-305
IN-VIVO INVESTIGATION OF INBORN-ERRORS OF FATTY-ACID OXIDATION
Authors: POGGI F BONEFONT JP SCHWARTZ G CHARPENTIER C RABIER D VASSAULT A BRIVET M SAUDUBRAY JM
Citation: F. Poggi et al., IN-VIVO INVESTIGATION OF INBORN-ERRORS OF FATTY-ACID OXIDATION, Annales de biologie clinique, 51(3-5), 1993, pp. 221-221
Risultati: 1-19 |