AAAAAA
Results: 76-96/96
Authors:
GREGERSEN N
WINTER V
LYONNET S
SAUDUBRAY JM
WENDEL U
JENSEN TG
ANDRESEN BS
KOLVRAA S
BOLUND L
CHRISTENSEN E
BROSS P
LEHNERT W
Citation: N. Gregersen et al., MOLECULAR-GENETIC CHARACTERIZATION AND URINARY-EXCRETION PATTERN OF METABOLITES IN 2 FAMILIES WITH MCAD DEFICIENCY DUE TO COMPOUND HETEROZYGOSITY WITH A 13 BASE-PAIR INSERTION IN ONE ALLELE, Journal of inherited metabolic disease, 17(2), 1994, pp. 169-184
DEFINITIVE CURE OF HYPERAMMONEMIA BY LIVER-TRANSPLANTATION IN UREA CYCLE DEFECTS - REPORT OF 3 CASES
Authors:
JAN D
POGGI F
JOUVET P
RABIER D
LAURENT J
BERINGER A
HUBERT P
SAUDUBRAY JM
REVILLON Y
Citation: D. Jan et al., DEFINITIVE CURE OF HYPERAMMONEMIA BY LIVER-TRANSPLANTATION IN UREA CYCLE DEFECTS - REPORT OF 3 CASES, Transplantation proceedings, 26(1), 1994, pp. 188-188
Authors:
JAN D
POGGI F
LAURENT J
RABIER D
JOUVET P
LACAILLE F
BERINGER A
HUBERT P
REVILLON Y
SAUDUBRAY JM
Citation: D. Jan et al., LIVER-TRANSPLANTATION - NEW INDICATIONS IN METABOLIC DISORDERS, Transplantation proceedings, 26(1), 1994, pp. 189-190
Authors:
DEMEIRLEIR L
LISSENS W
BENELLI C
PONSOT G
DESGUERRE I
MARSAC C
RODRIGUEZ D
SAUDUBRAY JM
POGGI F
LIEBAERS I
Citation: L. Demeirleir et al., ABERRANT SPLICING OF EXON-6 IN THE PYRUVATE DEHYDROGENASE-E1-ALPHA MESSENGER-RNA LINKED TO A SILENT MUTATION IN A LARGE FAMILY WITH LEIGH ENCEPHALOMYELOPATHY, Pediatric research, 36(6), 1994, pp. 707-712
Authors:
VANDERMEER SB
POGGI F
SPADA M
BONNEFONT JP
OGIER H
HUBERT P
DEPONDT E
RAPOPORT D
RABIER D
CHARPENTIER C
PARVY P
BARDET J
KAMOUN P
SAUDUBRAY JM
Citation: Sb. Vandermeer et al., CLINICAL OUTCOME OF LONG-TERM MANAGEMENT OF PATIENTS WITH VITAMIN-B-12-UNRESPONSIVE METHYLMALONIC ACIDEMIA, The Journal of pediatrics, 125(6), 1994, pp. 903-908
Authors:
SPADA M
GUARDAMAGNA O
RABIER D
VANDERMEER SB
PARVY P
BARDET J
PONZONE A
SAUDUBRAY JM
Citation: M. Spada et al., RECURRENT EPISODES OF BIZARRE BEHAVIOR IN A BOY WITH ORNITHINE TRANSCARBAMYLASE DEFICIENCY - DIAGNOSTIC FAILURE OF PROTEIN LOADING AND ALLOPURINOL CHALLENGE TESTS, The Journal of pediatrics, 125(2), 1994, pp. 249-251
Authors:
CORMIERDAIRE V
BONNEFONT JP
RUSTIN P
MAURAGE C
OGIER H
SCHMITZ J
RICOUR C
SAUDUBRAY JM
MUNNICH A
ROTIG A
Citation: V. Cormierdaire et al., MITOCHONDRIAL-DNA REARRANGEMENTS WITH ONSET AS CHRONIC DIARRHEA WITH VILLOUS ATROPHY, The Journal of pediatrics, 124(1), 1994, pp. 63-70
Authors:
FOURNIER B
SAUDUBRAY JM
BENICHOU B
LYONNET S
MUNNICH A
CLEVERS H
POLLTHE BT
Citation: B. Fournier et al., LARGE DELETION OF THE PEROXISOMAL ACYL-COA OXIDASE GENE IN PSEUDONEONATAL ADRENOLEUKODYSTROPHY, The Journal of clinical investigation, 94(2), 1994, pp. 526-531
Authors:
KAMIJO T
WANDERS RJA
SAUDUBRAY JM
AOYAMA T
KOMIYAMA A
HASHIMOTO T
Citation: T. Kamijo et al., MITOCHONDRIAL TRIFUNCTIONAL PROTEIN-DEFICIENCY - CATALYTIC HETEROGENEITY OF THE MUTANT ENZYME IN 2 PATIENTS, The Journal of clinical investigation, 93(4), 1994, pp. 1740-1747
Authors:
RUSTIN P
CHRETIEN D
BOURGERON T
GERARD B
ROTIG A
SAUDUBRAY JM
MUNNICH A
Citation: P. Rustin et al., BIOCHEMICAL AND MOLECULAR INVESTIGATIONS IN RESPIRATORY-CHAIN DEFICIENCIES, Clinica chimica acta, 228(1), 1994, pp. 35-51
Authors:
CHRETIEN D
RUSTIN P
BOURGERON T
ROTIG A
SAUDUBRAY JM
MUNNICH A
Citation: D. Chretien et al., REFERENCE CHARTS FOR RESPIRATORY-CHAIN ACTIVITIES IN HUMAN TISSUES, Clinica chimica acta, 228(1), 1994, pp. 53-70
Authors:
BODEMER C
DEPROST Y
BACHOLLET B
POGGI F
TEILLACHAMEL D
FRAITAG S
SAUDUBRAY JM
Citation: C. Bodemer et al., CUTANEOUS MANIFESTATIONS OF METHYLMALONIC AND PROPIONIC ACIDEMIA - A DESCRIPTION BASED ON 38 CASES, British journal of dermatology, 131(1), 1994, pp. 93-98
Authors:
MUNNICH A
ROTIG A
RUSTIN P
CHRETIEN D
BONNEFONT JP
NUTTIN C
CORMIER V
VASSAULT A
PARVY P
BARDET J
CHARPENTIER C
RABIER D
SAUDUBRAY JM
Citation: A. Munnich et al., CLINICAL PRESENTATIONS OF MITOCHONDRIAL D ISEASES, Annales de biologie clinique, 52(7-8), 1994, pp. 604-607
Authors:
SBAI D
NARCY C
THOMPSON GN
MARIOTTI A
POGGI F
SAUDUBRAY JM
BRESSON JL
Citation: D. Sbai et al., CONTRIBUTION OF ODD-CHAIN FATTY-ACID OXIDATION TO PROPIONATE PRODUCTION IN DISORDERS OF PROPIONATE METABOLISM, The American journal of clinical nutrition, 59(6), 1994, pp. 1332-1337
Authors:
ROTIG A
CORMIER V
CHATELAIN P
FRANCOIS R
SAUDUBRAY JM
RUSTIN P
MUNNICH A
Citation: A. Rotig et al., DELETION OF MITOCHONDRIAL-DNA IN A CASE OF EARLY-ONSET DIABETES-MELLITUS, OPTIC ATROPHY AND DEAFNESS (DIDMOAD, WOLFRAM-SYNDROME), Journal of inherited metabolic disease, 16(3), 1993, pp. 527-530
Authors:
PARINI R
SERENI LP
BAGOZZI DC
CORBETTA C
RABIER D
NARCY C
HUBERT P
SAUDUBRAY JM
Citation: R. Parini et al., NASOGASTRIC DRIP FEEDING AS THE ONLY TREATMENT OF NEONATAL MAPLE-SYRUP-URINE-DISEASE, Pediatrics, 92(2), 1993, pp. 280-283
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
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
Authors:
ROZET JM
PELET A
RABIER D
SEGUES B
SAUGIER P
LYONNET S
BONAITI C
SAUDUBRAY JM
KAMOUN P
MUNNICH A
Citation: Jm. Rozet et al., PRENATAL-DIAGNOSIS AND GENETIC-COUNSELING IN ORNITHINE TRANSCARBAMYLASE DEFICIENCY, Annales de biologie clinique, 51(3-5), 1993, pp. 296-296
Authors:
RIZZO WB
CRAFT DA
KELSON L
BONNEFONT JP
SAUDUBRAY JM
SCHULMAN JD
BLACK SH
TABSH K
DIROCCO M
Citation: Wb. Rizzo et al., PRENATAL-DIAGNOSIS OF SJOGREN-LARSSON SYNDROME IN THE 1ST AND 2ND TRIMESTER USING ENZYMATIC METHODS, American journal of human genetics, 53(3), 1993, pp. 89-89
Authors:
KASSOVSKABRATINOVA S
ROBERT MF
WANG S
SCHAPPERT K
SAUDUBRAY JM
CHARTRAND C
VOBECKY S
MITCHELL G
Citation: S. Kassovskabratinova et al., SUCCINYL-COA - 3-KETOACID COA TRANSFERASE (SCOT) - CLONING OF HUMANMYODARD IAL SCOT CDNAS AND SEQUENCE-ANALYSIS, American journal of human genetics, 53(3), 1993, pp. 910-910