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Results: 1-9 |
Results: 9
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
INBORN-ERRORS OF METABOLISM IN THE LIGHT OF METABOLIC CONTROL ANALYSIS
Authors: MAZAT JP LETELLIER T MALGAT M ROSSIGNOL R KORZENIEWSKI B DEMAUGRE F LEROUX JP
Citation: Jp. Mazat et al., INBORN-ERRORS OF METABOLISM IN THE LIGHT OF METABOLIC CONTROL ANALYSIS, Biochemical Society transactions, 26(2), 1998, pp. 141-145
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
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
CARNITINE PALMITYL TRANSFERASE DEFICIENCY TYPE-II COMPLICATED BY ACUTE RESPIRATORY-FAILURE
Authors: JOUTEL A MOULONGUET A DEMAUGRE F JANOWSKI M LACROIXJOUSSELIN C SAID G
Citation: A. Joutel et al., CARNITINE PALMITYL TRANSFERASE DEFICIENCY TYPE-II COMPLICATED BY ACUTE RESPIRATORY-FAILURE, Revue neurologique, 149(12), 1993, pp. 797-799
RECURRENT METABOLIC DECOMPENSATION IN PROFOUND CARNITINE PALMITOYLTRANSFERASE-II DEFICIENCY
Authors: ELPELEG ON JOSEPH A BRANSKI D CHRISTENSEN E HOLME E DEMAUGRE F SAUDUBRAY JM GUTMAN A
Citation: On. Elpeleg et al., RECURRENT METABOLIC DECOMPENSATION IN PROFOUND CARNITINE PALMITOYLTRANSFERASE-II DEFICIENCY, The Journal of pediatrics, 122(6), 1993, pp. 917-919
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