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Results: 1-25 | 26-50 | 51-75 | 76-96
Results: 1-25/96
SYNDROME OF CONGENITAL HYPERINSULINISM AND HYPERAMMONEMIA IN 6 UNRELATED PATIENTS
Authors: DELONLAY P FOURNET JC VERKARRE V RAHIER J JUNIEN C NIHOULFEKETE C ROBERT JJ SAUDUBRAY JM
Citation: P. Delonlay et al., SYNDROME OF CONGENITAL HYPERINSULINISM AND HYPERAMMONEMIA IN 6 UNRELATED PATIENTS, European journal of human genetics, 6, 1998, pp. 1105-1105
PERSISTENT HYPERINSULINEMIC HYPOGLYCEMIA OF INFANCY (PHHI) IS A HETEROGENEOUS DISORDER WITH 2 HISTOLOGICAL FORMS AND DIFFERENT MOLECULAR-BASIS
Authors: DELONLAY P FOURNET JC VERKARRE V RAHIER J ROBERT JJ NIHOULFEKETE C SAUDUBRAY JM JUNIEN C
Citation: P. Delonlay et al., PERSISTENT HYPERINSULINEMIC HYPOGLYCEMIA OF INFANCY (PHHI) IS A HETEROGENEOUS DISORDER WITH 2 HISTOLOGICAL FORMS AND DIFFERENT MOLECULAR-BASIS, European journal of human genetics, 6, 1998, pp. 1108-1108
IDENTIFICATION OF THE GENETIC-DEFECT IN A VARIANT OF CDG SYNDROME TYPE-I - MUTATIONS IN THE PMI GENE RESULT IN A SEVERE, BUT POTENTIALLY TREATABLE DISORDER
Authors: MATTHIJS G SCHOLLEN E SAUDUBRAY JM DELONLAY P DIONISIVICI C BERTINI E HENRI H CASSIMAN JJ JAEKEN J VANSCHAFTINGEN E
Citation: G. Matthijs et al., IDENTIFICATION OF THE GENETIC-DEFECT IN A VARIANT OF CDG SYNDROME TYPE-I - MUTATIONS IN THE PMI GENE RESULT IN A SEVERE, BUT POTENTIALLY TREATABLE DISORDER, European journal of human genetics, 6, 1998, pp. 5006-5006
MENINGITIS DUE TO BACILLUS-CEREUS IN AN INFANT WITH REYE-SYNDROME
Authors: FERRONI A ODIEVRE MH ABACHIN E REVY P CASANOVA JL SAUDUBRAY JM BERCHE P NASSIF X
Citation: A. Ferroni et al., MENINGITIS DUE TO BACILLUS-CEREUS IN AN INFANT WITH REYE-SYNDROME, Archives de pediatrie, 5(10), 1998, pp. 1103-1106
PANCREATIC B-CELL PROLIFERATION IN PERSISTENT HYPERINSULINEMIC HYPOGLYCEMIA OF INFANCY - AN IMMUNOHISTOCHEMICAL STUDY OF 18 CASES
Authors: SEMPOUX C GUIOT Y DUBOIS D NOLLEVAUX MC SAUDUBRAY JM NIHOULFEKETE C RAHIER J
Citation: C. Sempoux et al., PANCREATIC B-CELL PROLIFERATION IN PERSISTENT HYPERINSULINEMIC HYPOGLYCEMIA OF INFANCY - AN IMMUNOHISTOCHEMICAL STUDY OF 18 CASES, Modern pathology, 11(5), 1998, pp. 444-449
CLINICAL APPROACH TO INHERITED PEROXISOMAL DISORDERS - A SERIES OF 27PATIENTS
Authors: BAUMGARTNER MR POLLTHE BT VERHOEVEN NM JAKOBS C ESPEEL M ROELS F RABIER D LEVADE T ROLLAND MO MARTINEZ M WANDERS RJA SAUDUBRAY JM
Citation: Mr. Baumgartner et al., CLINICAL APPROACH TO INHERITED PEROXISOMAL DISORDERS - A SERIES OF 27PATIENTS, Annals of neurology, 44(5), 1998, pp. 720-730
LONG-TERM TREATMENT OF PERSISTENT HYPERINSULINEMIC HYPOGLYCEMIA OF INFANCY WITH DIAZOXIDE - A RETROSPECTIVE REVIEW OF 77 CASES AND ANALYSISOF EFFICACY-PREDICTING CRITERIA
Authors: TOUATI G POGGITRAVERT F DEBAULNY HO RAHIER J BRUNELLE F NIHOULFEKETE C CZERNICHOW P SAUDUBRAY JM
Citation: G. Touati et al., LONG-TERM TREATMENT OF PERSISTENT HYPERINSULINEMIC HYPOGLYCEMIA OF INFANCY WITH DIAZOXIDE - A RETROSPECTIVE REVIEW OF 77 CASES AND ANALYSISOF EFFICACY-PREDICTING CRITERIA, European journal of pediatrics, 157(8), 1998, pp. 628-633
REMETHYLATION DEFECTS - GUIDELINES FOR CLINICAL-DIAGNOSIS AND TREATMENT
Authors: DEBAULNY HO GERARD M SAUDUBRAY JM ZITTOUN J
Citation: Ho. Debaulny et al., REMETHYLATION DEFECTS - GUIDELINES FOR CLINICAL-DIAGNOSIS AND TREATMENT, European journal of pediatrics, 157, 1998, pp. 77-83
MUSCULAR ORIGIN OF HYPERAMMONEMIA
Authors: KAMOUN P RABIER D SAUDUBRAY JM
Citation: P. Kamoun et al., MUSCULAR ORIGIN OF HYPERAMMONEMIA, European journal of pediatrics, 157(10), 1998, pp. 868-868
PARTIAL OR NEAR-TOTAL PANCREATECTOMY FOR PERSISTENT NEONATAL HYPERINSULINEMIC HYPOGLYCEMIA - THE PATHOLOGISTS ROLE
Authors: RAHIER J SEMPOUX C FOURNET JC POGGI F BRUNELLE F NIHOULFEKETE C SAUDUBRAY JM JAUBERT F
Citation: J. Rahier et al., PARTIAL OR NEAR-TOTAL PANCREATECTOMY FOR PERSISTENT NEONATAL HYPERINSULINEMIC HYPOGLYCEMIA - THE PATHOLOGISTS ROLE, Histopathology, 32(1), 1998, pp. 15-19
EVIDENCE OF CAROTID WALL THICKENING IN SUBJECTS WITH HOMOZYGOUS HOMOCYSTINURIA BUT NOT IN THEIR HETEROZYGOUS PARENTS
Authors: GARIEPY J MEGNIEN JL SAUDUBRAY JM NUOFFER JM LEVENSON J SIMON A
Citation: J. Gariepy et al., EVIDENCE OF CAROTID WALL THICKENING IN SUBJECTS WITH HOMOZYGOUS HOMOCYSTINURIA BUT NOT IN THEIR HETEROZYGOUS PARENTS, Journal of hypertension, 16, 1998, pp. 1407-1407
CUTANEOUS MANIFESTATIONS OF TYPE-I (CARBOHYDRATE-DEFICIENT GLYCOPROTEIN)
Authors: VABRES P SEVIN C AMORIC JC ODIEVRE MH SAUDUBRAY JM DEPROST Y
Citation: P. Vabres et al., CUTANEOUS MANIFESTATIONS OF TYPE-I (CARBOHYDRATE-DEFICIENT GLYCOPROTEIN), Annales de dermatologie et de venereologie, 125(10), 1998, pp. 715-716
THE METABOLISM OF PHYTANIC ACID AND PRISTANIC ACID IN MAN - A REVIEW
Authors: VERHOEVEN NM WANDERS RJA POLLTHE BT SAUDUBRAY JM JAKOBS C
Citation: Nm. Verhoeven et al., THE METABOLISM OF PHYTANIC ACID AND PRISTANIC ACID IN MAN - A REVIEW, Journal of inherited metabolic disease, 21(7), 1998, pp. 697-728
PERSISTENT HYPOCITRULLINAEMIA AS A MARKER FOR MTDNA NARP T-8993 G-MUTATION
Authors: RABIER D DIRY C ROTIG A RUSTIN P HERON B BARDET J PARVY P PONSOT G MARSAC C SAUDUBRAY JM MUNNICH A KAMOUN P
Citation: D. Rabier et al., PERSISTENT HYPOCITRULLINAEMIA AS A MARKER FOR MTDNA NARP T-8993 G-MUTATION, Journal of inherited metabolic disease, 21(3), 1998, pp. 216-219
DEFECTIVE PEROXISOME BIOGENESIS WITH A NEUROMUSCULAR DISORDER RESEMBLING WERDNIG-HOFFMANN-DISEASE
Authors: BAUMGARTNER MR VERHOEVEN NM JAKOBS C ROELS F ESPEEL M MARTINEZ M RABIER D WANDERS RJA SAUDUBRAY JM
Citation: Mr. Baumgartner et al., DEFECTIVE PEROXISOME BIOGENESIS WITH A NEUROMUSCULAR DISORDER RESEMBLING WERDNIG-HOFFMANN-DISEASE, Neurology, 51(5), 1998, pp. 1427-1432
PATERNAL MUTATION OF THE SULFONYLUREA RECEPTOR (SUR1) GENE AND MATERNAL LOSS OF 11P15 IMPRINTED GENES LEAD TO PERSISTENT HYPERINSULINISM INFOCAL ADENOMATOUS HYPERPLASIA
Authors: VERKARRE V FOURNET JC DELONLAY P GROSSMORAND MS DEVILLERS M RAHIER J BRUNELLE F ROBERT JJ NIHOULFEKUTE C SAUDUBRAY JM JUNIEN C
Citation: V. Verkarre et al., PATERNAL MUTATION OF THE SULFONYLUREA RECEPTOR (SUR1) GENE AND MATERNAL LOSS OF 11P15 IMPRINTED GENES LEAD TO PERSISTENT HYPERINSULINISM INFOCAL ADENOMATOUS HYPERPLASIA, The Journal of clinical investigation, 102(7), 1998, pp. 1286-1291
NEONATAL HYPERINSULINEMIC HYPOGLYCEMIA - HETEROGENEITY OF THE SYNDROME AND KEYS FOR DIFFERENTIAL-DIAGNOSIS
Authors: SEMPOUX C GUIOT Y LEFEVRE A NIHOULFEKETE C JAUBERT F SAUDUBRAY JM RAHIER J
Citation: C. Sempoux et al., NEONATAL HYPERINSULINEMIC HYPOGLYCEMIA - HETEROGENEITY OF THE SYNDROME AND KEYS FOR DIFFERENTIAL-DIAGNOSIS, The Journal of clinical endocrinology and metabolism, 83(5), 1998, pp. 1455-1461
EVIDENCE OF CAROTID-ARTERY WALL HYPERTROPHY IN HOMOZYGOUS HOMOCYSTINURIA
Authors: MEGNIEN JL GARIEPY J SAUDUBRAY JM NUOFFER JM DENARIE N LEVENSON J SIMON A
Citation: Jl. Megnien et al., EVIDENCE OF CAROTID-ARTERY WALL HYPERTROPHY IN HOMOZYGOUS HOMOCYSTINURIA, Circulation, 98(21), 1998, pp. 2276-2281
PHOSPHOMANNOSE ISOMERASE DEFICIENCY - A CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME WITH HEPATIC-INTESTINAL PRESENTATION
Authors: JAEKEN J MATTHIJS G SAUDUBRAY JM DIONISIVICI C BERTINI E DELONLAY P HENRI H CARCHON H SCHOLLEN E VANSCHAFTINGEN E
Citation: J. Jaeken et al., PHOSPHOMANNOSE ISOMERASE DEFICIENCY - A CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME WITH HEPATIC-INTESTINAL PRESENTATION, American journal of human genetics, 62(6), 1998, pp. 1535-1539
A NEW INHERITED METABOLIC DISEASE - DELTA -1-PYRROLINE 5-CARBOXYLATE SYNTHETASE DEFICIENCY
Authors: KAMOUN P ARAL B SAUDUBRAY JM
Citation: P. Kamoun et al., A NEW INHERITED METABOLIC DISEASE - DELTA -1-PYRROLINE 5-CARBOXYLATE SYNTHETASE DEFICIENCY, Bulletin de l'Academie nationale de medecine, 182(1), 1998, pp. 131-139
THE MOLECULAR-BASIS OF MEDIUM-CHAIN ACYL-COA DEHYDROGENASE (MCAD) DEFICIENCY IN COMPOUND HETEROZYGOUS PATIENTS - IS THERE CORRELATION BETWEEN GENOTYPE AND PHENOTYPE
Authors: ANDRESEN BS BROSS P UDVARI S KIRK J GRAY G KMOCH S CHAMOLES N KNUDSEN I WINTER V WILCKEN B YOKOTA I HART K PACKMAN S HARPEY JP SAUDUBRAY JM HALE DE BOLUND L KOLVRAA S GREGERSEN N
Citation: Bs. Andresen et al., THE MOLECULAR-BASIS OF MEDIUM-CHAIN ACYL-COA DEHYDROGENASE (MCAD) DEFICIENCY IN COMPOUND HETEROZYGOUS PATIENTS - IS THERE CORRELATION BETWEEN GENOTYPE AND PHENOTYPE, Human molecular genetics, 6(5), 1997, pp. 695-707
MUNCHAUSEN-SYNDROME BY PROXY
Authors: BOCQUET N BOILEAU P CASTANET M GAUTIER I LAMBOLEY G RICHARD E DETOURNEMIRE R SAUDUBRAY JM
Citation: N. Bocquet et al., MUNCHAUSEN-SYNDROME BY PROXY, Archives de pediatrie, 4(8), 1997, pp. 770-778
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
SEVERE COMPLEX-I DEFICIENCY IN A CASE OF NEONATAL-ONSET LACTIC-ACIDOSIS AND FATAL LIVER-FAILURE
Authors: MAZZELLA M CERONE R BONACCI W CARUSO U MUNNICH A RUSTIN P SAUDUBRAY JM ROMANO C SERRA G
Citation: M. Mazzella et al., SEVERE COMPLEX-I DEFICIENCY IN A CASE OF NEONATAL-ONSET LACTIC-ACIDOSIS AND FATAL LIVER-FAILURE, Acta paediatrica, 86(3), 1997, pp. 326-329
BIOCHEMICAL-STUDIES AND GENETIC-STUDIES OF 4 PATIENTS WITH PYRUVATE-DEHYDROGENASE-E1-ALPHA DEFICIENCY
Authors: MARSAC C BENELLI C DESGUERRE I DIRY M FOUQUE F DEMEIRLEIR L PONSOT G SENECA S POGGI F SAUDUBRAY JM ZABOT MT FONTAN D LISSENS W
Citation: C. Marsac et al., BIOCHEMICAL-STUDIES AND GENETIC-STUDIES OF 4 PATIENTS WITH PYRUVATE-DEHYDROGENASE-E1-ALPHA DEFICIENCY, Human genetics, 99(6), 1997, pp. 785-792
Risultati: 1-25 | 26-50 | 51-75 | 76-96