ACNP - Italian Periodicals Catalogue

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Results: 1-25 | 26-50 | 51-75 | 76-96

Results: 51-75/96

HYPERINSULINISM IN CHILDREN - DIAGNOSTIC-VALUE OF PANCREATIC VENOUS SAMPLING CORRELATED WITH CLINICAL, PATHOLOGICAL AND SURGICAL OUTCOME IN25 CASES

Authors: DUBOIS J BRUNELLE F TOUATI G SEBAG G NUTTIN C THACH T NIKOULFEKETE C RAHIER J SAUDUBRAY JM

Citation: J. Dubois et al., HYPERINSULINISM IN CHILDREN - DIAGNOSTIC-VALUE OF PANCREATIC VENOUS SAMPLING CORRELATED WITH CLINICAL, PATHOLOGICAL AND SURGICAL OUTCOME IN25 CASES, Pediatric radiology, 25(7), 1995, pp. 512-516

PEROXISOME MOSAICISM IN THE LIVERS OF PEROXISOMAL DEFICIENCY PATIENTS

Authors: ESPEEL M MANDEL H POGGI F SMEITINK JAM WANDERS RJA KERCKAERT I SCHUTGENS RBH SAUDUBRAY JM POLLTHE BT ROELS F

Citation: M. Espeel et al., PEROXISOME MOSAICISM IN THE LIVERS OF PEROXISOMAL DEFICIENCY PATIENTS, Hepatology, 22(2), 1995, pp. 497-504

APPARENT SEGREGATION OF NULL ALLELES ASCRIBED TO DELETIONS OF THE ORNITHINE TRANSCARBAMYLASE GENE IN CONGENITAL HYPERAMMONEMIA

Authors: SEGUES B ROZET JM GILBERT B SAUGIERVEBER P RABIER D SAUDUBRAY JM CARRE M ROULEAU FP MENGET A BONARDI JM LYONNET S BONNEFONT JP MUNNICH A

Citation: B. Segues et al., APPARENT SEGREGATION OF NULL ALLELES ASCRIBED TO DELETIONS OF THE ORNITHINE TRANSCARBAMYLASE GENE IN CONGENITAL HYPERAMMONEMIA, Prenatal diagnosis, 15(8), 1995, pp. 757-761

MITOCHONDRIAL RESPIRATORY-CHAIN DEFECT - A NEW ETIOLOGY FOR NEONATAL CHOLESTASIS AND EARLY LIVER INSUFFICIENCY

Authors: GONCALVES I HERMANS D CHRETIEN D RUSTIN P MUNNICH A SAUDUBRAY JM VANHOOF F REDING R DEGOYET JD OTTE JB BUTS JP SOKAL EM

Citation: I. Goncalves et al., MITOCHONDRIAL RESPIRATORY-CHAIN DEFECT - A NEW ETIOLOGY FOR NEONATAL CHOLESTASIS AND EARLY LIVER INSUFFICIENCY, Journal of hepatology, 23(3), 1995, pp. 290-294

LIVER-TRANSPLANTATION IN 2 CASES OF PROPIONIC ACIDEMIA

Authors: SCHLENZIG JS POGGITRAVERT F LAURENT J RABIER D JAN D WENDEL U SEWELL AC REVILLON Y KAMOUN P SAUDUBRAY JM

Citation: Js. Schlenzig et al., LIVER-TRANSPLANTATION IN 2 CASES OF PROPIONIC ACIDEMIA, Journal of inherited metabolic disease, 18(4), 1995, pp. 448-461

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

CLINICAL APPROACH TO INHERITED PEROXISOMAL DISORDERS

Authors: POGGITRAVERT F FOURNIER B POLLTHE BT SAUDUBRAY JM

Citation: F. Poggitravert et al., CLINICAL APPROACH TO INHERITED PEROXISOMAL DISORDERS, Journal of inherited metabolic disease, 18, 1995, pp. 1-18

LIVER-TRANSPLANTATION IN CHILDREN WITH INHERITED METABOLIC DISORDERS

Authors: JAN D LAURENT J LACAILLE F POGGI F RABIER D BERINGER A FLANDINBLETY C NIAUDET P HUBERT P SAUDUBRAY JM REVILLON Y

Citation: D. Jan et al., LIVER-TRANSPLANTATION IN CHILDREN WITH INHERITED METABOLIC DISORDERS, Transplantation proceedings, 27(2), 1995, pp. 1706-1707

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

HYPOKALEMIC PERIODIC PARALYSIS AND THE DIHYDROPYRIDINE RECEPTOR (CACNLIA3) - GENOTYPE-PHENOTYPE CORRELATIONS FOR 2 PREDOMINANT MUTATIONS AND EVIDENCE FOR THE ABSENCE OF A FOUNDER EFFECT IN 16 CAUCASIAN FAMILIES

Authors: ELBAZ A VALESANTOS J JURKATROTT K LAPIE P OPHOFF RA BADY B LINKS TP PIUSSAN C VILA A MONNIER N PADBERG GW ABE K FEINGOLD N GUIMARAES J WINTZEN AR VANDERHOEVEN JH SAUDUBRAY JM GRUNFELD JP LENOIR G NIVET H ECHENNE B FRANTS RR FARDEAU M LEHMANNHORN F FONTAINE B

Citation: A. Elbaz et al., HYPOKALEMIC PERIODIC PARALYSIS AND THE DIHYDROPYRIDINE RECEPTOR (CACNLIA3) - GENOTYPE-PHENOTYPE CORRELATIONS FOR 2 PREDOMINANT MUTATIONS AND EVIDENCE FOR THE ABSENCE OF A FOUNDER EFFECT IN 16 CAUCASIAN FAMILIES, American journal of human genetics, 56(2), 1995, pp. 374-380

DIAGNOSIS OF COMA OF METABOLIC ORIGIN IN CHILDREN

Authors: POGGITRAVERT F HERON B DEVILLEMEUR TB SPADA M JOUVET P CHARPENTIER C RABIER D KAMOUN P SAUDUBRAY JM

Citation: F. Poggitravert et al., DIAGNOSIS OF COMA OF METABOLIC ORIGIN IN CHILDREN, Archives de pediatrie, 1(9), 1994, pp. 843-851

MIDTERM OUTCOME OF 2 CASES OF MAPLE-SYRUP -URINE-DISEASE - EFFECT OF LIVER-TRANSPLANTATION

Authors: NETTER JC COSSARIZZA G NARCY C HUBERT P OGIER H REVILLON Y RABIER D SAUDUBRAY JM

Citation: Jc. Netter et al., MIDTERM OUTCOME OF 2 CASES OF MAPLE-SYRUP -URINE-DISEASE - EFFECT OF LIVER-TRANSPLANTATION, Archives de pediatrie, 1(8), 1994, pp. 730-734

PLACE OF INBORN-ERRORS OF METABOLISM IN P EDIATRICS (1994)

Authors: SAUDUBRAY JM

Citation: Jm. Saudubray, PLACE OF INBORN-ERRORS OF METABOLISM IN P EDIATRICS (1994), Archives de pediatrie, 1(7), 1994, pp. 623-628

LABORATORY INVESTIGATIONS PROTOCOL FOR TH E DIAGNOSIS OF HEREDITARY METABOLIC DISORDERS

Authors: POGGI F RABIER D VASSAULT A CHARPENTIER C KAMOUN P SAUDUBRAY JM

Citation: F. Poggi et al., LABORATORY INVESTIGATIONS PROTOCOL FOR TH E DIAGNOSIS OF HEREDITARY METABOLIC DISORDERS, Archives de pediatrie, 1(7), 1994, pp. 667-673

ISOLATED SULFITE OXIDASE DEFICIENCY PRESE NTING AS A LEIGH-SYNDROME

Authors: AMIEL J GAGEY V RABIER D DORCHE C BONNEFONT JP DUFIER JL SAUDUBRAY JM REY J MUNNICH A

Citation: J. Amiel et al., ISOLATED SULFITE OXIDASE DEFICIENCY PRESE NTING AS A LEIGH-SYNDROME, Archives de pediatrie, 1(11), 1994, pp. 1023-1027

HYPERTROPHIC CARDIOMYOPATHY CAUSED BY CYT OCHROME-C-OXIDASE DEFICIENCY

Authors: GOURNAYTOULEMONDE V MUNNICH A BOUHOUR JB LEFEVRE M POTIRON M SAUDUBRAY JM

Citation: V. Gournaytoulemonde et al., HYPERTROPHIC CARDIOMYOPATHY CAUSED BY CYT OCHROME-C-OXIDASE DEFICIENCY, La Presse medicale, 23(32), 1994, pp. 1475-1479

HYPERTROPHIC CARDIOMYOPATHY CAUSED BY CYT OCHROME-C-OXIDASE DEFICIENCY

Authors: GOURNAYTOULEMONDE V MUNNICH A BOUHOUR JB LEFEVRE M POTIRON M SAUDUBRAY JM

Citation: V. Gournaytoulemonde et al., HYPERTROPHIC CARDIOMYOPATHY CAUSED BY CYT OCHROME-C-OXIDASE DEFICIENCY, La Presse medicale, 23(32), 1994, pp. 1475-1479

GENETIC-HETEROGENEITY IN HYPOKALEMIC PERIODIC PARALYSIS (HYPOPP)

Authors: PLASSART E ELBAZ A SANTOS JV REBOUL J LAPIE P CHAUVEAU D JURKATROTT K GUIMARAES J SAUDUBRAY JM WEISSENBACH J LEHMANNHORN F FONTAINE B

Citation: E. Plassart et al., GENETIC-HETEROGENEITY IN HYPOKALEMIC PERIODIC PARALYSIS (HYPOPP), Human genetics, 94(5), 1994, pp. 551-556

LIVER CYTOCHROME-C-OXIDASE DEFICIENCY IN A CASE OF NEONATAL-ONSET HEPATIC-FAILURE

Authors: EDERY P GERARD B CHRETIEN D ROTIG A CERRONE R RABIER D RAMBAUD C FABRE M SAUDUBRAY JM MUNNICH A RUSTIN P

Citation: P. Edery et al., LIVER CYTOCHROME-C-OXIDASE DEFICIENCY IN A CASE OF NEONATAL-ONSET HEPATIC-FAILURE, European journal of pediatrics, 153(3), 1994, pp. 190-194

LIVER-TRANSPLANTATION FOR PROPIONIC ACIDEMIA IN CHILDREN - PRUDENCE ABOUT A NEW INDICATION

Authors: LACAILLE F POGGITRAVERT F LAURENT J JAN D JOUVET P RABIER D REVILLON Y BRESSON JL WENDEL U SAUDUBRAY JM

Citation: F. Lacaille et al., LIVER-TRANSPLANTATION FOR PROPIONIC ACIDEMIA IN CHILDREN - PRUDENCE ABOUT A NEW INDICATION, Hepatology, 20(4), 1994, pp. 10000122-10000122

PRENATAL-DIAGNOSIS OF SJOGREN-LARSSON SYNDROME USING ENZYMATIC METHODS

Authors: RIZZO WB CRAFT DA KELSON TL BONNEFONT JP SAUDUBRAY JM SCHULMAN JD BLACK SH TABSH K DIROCCO M GARDNER RJM

Citation: Wb. Rizzo et al., PRENATAL-DIAGNOSIS OF SJOGREN-LARSSON SYNDROME USING ENZYMATIC METHODS, Prenatal diagnosis, 14(7), 1994, pp. 577-581

METHYLENETETRAHYDROFOLATE REDUCTASE DEFICIENCY - PRENATAL-DIAGNOSIS AND FAMILY STUDIES

Authors: MARQUET J CHADEFAUX B BONNEFONT JP SAUDUBRAY JM ZITTOUN J

Citation: J. Marquet et al., METHYLENETETRAHYDROFOLATE REDUCTASE DEFICIENCY - PRENATAL-DIAGNOSIS AND FAMILY STUDIES, Prenatal diagnosis, 14(1), 1994, pp. 29-33

DICARBOXYLIC AMINOACIDURIA

Authors: KAMOUN P PARVY P RABIER D BARDET J DEVILLEMEUR TB SAUDUBRAY JM

Citation: P. Kamoun et al., DICARBOXYLIC AMINOACIDURIA, Journal of inherited metabolic disease, 17(6), 1994, pp. 758-758

PEROXISOMAL DISORDERS - A REVIEW

Authors: FOURNIER B SMEITINK JAM DORLAND L BERGER R SAUDUBRAY JM POLLTHE BT

Citation: B. Fournier et al., PEROXISOMAL DISORDERS - A REVIEW, Journal of inherited metabolic disease, 17(4), 1994, pp. 470-486

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

Risultati: 1-25 | 26-50 | 51-75 | 76-96