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    1. Hsu, BYL; Iacobazzi, V; Wang, ZL; Harvie, H; Chalmers, RA; Saudubray, JM; Palmieri, F; Ganguly, A; Stanley, CA
      Aberrant rnRNA splicing associated with coding region mutations in children with carnitine-acylcarnitine translocase deficiency

      MOLECULAR GENETICS AND METABOLISM
    2. Romero, NB; De Lonlay, P; Llense, S; Leturcq, F; Touati, G; Urtizberea, JA; Saudubray, JM; Munnich, A; Kaplan, JC; Recan, D
      Pseudo-metabolic presentation in a Duchenne muscular dystrophy symptomaticcarrier with 'de novo' duplication of dystrophin gene

      NEUROMUSCULAR DISORDERS
    3. Autret-Leca, E; Jonville-Bera, AP; Llau, ME; Bavoux, F; Saudubray, JM; Laugier, J; Devictor, D; Barbier, P
      Incidence of Reye's syndrome in France

      ARCHIVES DE PEDIATRIE
    4. de Lonlay-Debeney, P; Fournet, JC; Touati, G; Robert, JJ; Junien, C; Saudubray, JM
      Hyperinsulinism

      ARCHIVES DE PEDIATRIE
    5. Autret-Leca, E; Jonville-Bera, AP; Llau, ME; Bavoux, F; Saudubray, JM; Laugier, J; Devictor, D; Barbier, P
      Incidence of Reye's syndrome in France: A hospital-based survey

      JOURNAL OF CLINICAL EPIDEMIOLOGY
    6. Mitanchez, D; Rabier, D; Mokhtari, M; Durrmeyer, X; Menget, A; Larsson, A; Saudubray, JM
      5-oxoprolinuria: A cause of neonatal metabolic acidosis

      ACTA PAEDIATRICA
    7. Chigot, V; De Lonlay, P; Nassogne, MC; Laborde, K; Delagne, V; Fournet, JC; Nihoul-Fekete, C; Saudubray, JM; Brunelle, F
      Pancreatic arterial calcium stimulation in the diagnosis and localisation of persistent hyperinsulinemic hypoglycaemia of infancy

      PEDIATRIC RADIOLOGY
    8. Pappas, PA; Saudubray, JM; Tzakis, AG; Rabier, D; Carreno, MR; Gomez-Marin, O; Huijing, F; Gelman, B; Levi, DM; Nery, JR; Kato, T; Mittal, N; Nishida, S; Thompson, JF; Ruiz, P
      Serum citrulline and rejection in small bowel transplantation: A preliminary report

      TRANSPLANTATION
    9. Menni, F; de Lonlay, P; Sevin, C; Touati, G; Peigne, C; Barbier, V; Nihoul-Fekete, C; Saudubray, JM; Robert, JJ
      Neurologic outcomes of 90 neonates and infants with persistent hyperinsulinemic hypoglycemia

      PEDIATRICS
    10. De Lonlay, P; Benelli, C; Fouque, F; Ganguly, A; Aral, B; Dionisi-Vici, C; Touati, G; Heinrichs, C; Rabier, D; Kamoun, P; Robert, JJ; Stanley, C; Saudubray, JM
      Hyperinsulinism and hyperammonemia syndrome: Report of twelve unrelated patients

      PEDIATRIC RESEARCH
    11. de Lonlay, P; Seta, N; Barrot, S; Chabrol, B; Drouin, V; Gabriel, BM; Journel, H; Kretz, M; Laurent, J; Le Merrer, M; Leroy, A; Pedespan, D; Sarda, P; Villeneuve, N; Schmitz, J; van Schaftingen, E; Matthijs, G; Jaeken, J; Korner, C; Munnich, A; Saudubray, JM; Cormier-Daire, V
      A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases

      JOURNAL OF MEDICAL GENETICS
    12. Brown, NF; Mullur, RS; Subramanian, I; Esser, V; Bennett, MJ; Saudubray, JM; Feigenbaum, AS; Kobari, JA; Macleod, PM; McGarry, JD; Cohen, JC
      Molecular characterization of L-CPT I deficiency in six patients: insightsinto function of the native enzyme

      JOURNAL OF LIPID RESEARCH
    13. MacMullen, C; Fang, J; Hsu, BYL; Kelly, A; de Lonlay-Debeney, P; Saudubray, JM; Ganguly, A; Smith, TJ; Stanley, CA
      Hyperinsulinism/hyperammonemia syndrome in children with regulatory mutations in the inhibitory guanosine triphosphate-binding domain of glutamate dehydrogenase

      JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM
    14. Ou, P; Touati, G; Fraisse, A; Sidi, D; Kachaner, J; Saudubray, JM; Bonnet, D
      A rare cause of cardiomyopathy in childhood: Propionic acidosis. Three case reports

      ARCHIVES DES MALADIES DU COEUR ET DES VAISSEAUX
    15. Fournet, JC; Mayaud, C; de Lonlay, P; Gross-Morand, MS; Verkarre, V; Castanet, M; Devillers, M; Rahier, J; Brunelle, F; Robert, JJ; Nihoul-Fekete, C; Saudubray, JM; Junien, C
      Unbalanced expression of 11p15 imprinted genes in focal forms of congenital hyperinsulinism - Association with a reduction to hamozygosity of a mutation in ABCC8 or KCNJ11

      AMERICAN JOURNAL OF PATHOLOGY
    16. Baumgartner, MR; Hu, CAA; Almashanu, S; Steel, G; Obie, C; Aral, B; Rabier, D; Kamoun, P; Saudubray, JM; Valle, D
      Hyperammonemia with reduced ornithine, citrulline, arginine and proline: anew inborn error caused by a mutation in the gene encoding Delta(1)-pyrroline-5-carboxylate synthase

      HUMAN MOLECULAR GENETICS
    17. Thuillier, L; Sevin, C; Demaugre, F; Brivet, M; Rabier, D; Droin, V; Aupetit, J; Abadi, N; Kamoun, P; Saudubray, JM; Bonnefont, JP
      Genotype/phenotype correlation in carnitine palmitoyl transferase II deficiency: lessons from a compound heterozygous patient

      NEUROMUSCULAR DISORDERS
    18. de Lonlay, P; Cormier-Daire, V; Vuillaumier-Barrot, S; Cuer, M; Durand, G; Munnich, A; Saudubray, JM; Seta, N
      "Carbohydrate-deficient glycoprotein" syndrome.

      ARCHIVES DE PEDIATRIE
    19. Baumgartner, MR; Jansen, GA; Verhoeven, NM; Mooyer, PAW; Jakobs, C; Roels, F; Espeel, M; Fourmaintraux, A; Bellet, H; Wanders, RJA; Saudubray, JM
      Atypical Refsum disease with pipecolic acidemia and abnormal catalase distribution

      ANNALS OF NEUROLOGY
    20. Nuoffer, JM; de Lonlay, P; Costa, C; Roe, CR; Chamoles, N; Brivet, M; Saudubray, JM
      Familial neonatal SIDS revealing carnitine-acylcarnitine translocase deficiency

      EUROPEAN JOURNAL OF PEDIATRICS
    21. Fournet, JC; Mayaud, C; de Lonlaya, P; Verkarre, V; Rahier, J; Brunelle, F; Robert, JJ; Nihoul-Fekete, C; Saudubray, JM; Junien, C
      Loss of imprinted genes and paternal SUR1 mutations lead to focal form of congenital hyperinsulinism

      HORMONE RESEARCH
    22. Faivre, L; Cormier-Daire, V; Chretien, D; von Kleist-Retzow, JC; Amiel, J; Dommergues, M; Saudubray, JM; Dumez, Y; Rotig, A; Rustin, P; Munnich, A
      Determination of enzyme activities for prenatal diagnosis of respiratory chain deficiency

      PRENATAL DIAGNOSIS
    23. Bodner-Leidecker, A; Wendel, U; Saudubray, JM; Schadewaldt, P
      Branched-chain L-amino acid metabolism in classical maple syrup urine disease after orthotopic liver transplantation

      JOURNAL OF INHERITED METABOLIC DISEASE
    24. De Lonlay, P; Nassogne, MC; van Gennip, AH; van Cruchten, AC; de Villemeur, TB; Cretz, M; Stoll, C; Launay, JM; Steenberger-Spante, GCV; van den Heuvel, LPW; Wevers, RA; Saudubray, JM; Abeling, NGGM
      Tyrosine hydroxylase deficiency unresponsive to L-dopa treatment with unusual clinical and biochemical presentation

      JOURNAL OF INHERITED METABOLIC DISEASE
    25. Saudubray, JM; De Lonlay, P; Touati, G; Martin, D; Nassogne, MC; Castelnau, P; Sevin, C; Laborde, C; Baussan, C; Brivet, M; Vassault, A; Rabier, D; Bonnefont, JP; Kamoun, P
      Genetic hypoglycaemia in infancy and childhood: Pathophysiology and diagnosis

      JOURNAL OF INHERITED METABOLIC DISEASE
    26. Touati, G; Rusthoven, E; Depondt, E; Dorche, C; Duran, M; Heron, B; Rabier, D; Russo, M; Saudubray, JM
      Dietary therapy in two patients with a mild form of sulphite oxidase deficiency. Evidence for clinical and biological improvement

      JOURNAL OF INHERITED METABOLIC DISEASE
    27. de Lonlay-Debeney, P; von Kleist-Retzow, JC; Hertz-Pannier, L; Peudenier, S; Cormier-Daire, V; Berquin, P; Chretien, D; Rotig, A; Saudubray, JM; Baraton, J; Brunelle, F; Rustin, P; Van der Knaap, M; Munnich, A
      Cerebral white matter disease in children may be caused by mitochondrial respiratory chain deficiency

      JOURNAL OF PEDIATRICS
    28. Aynsley-Green, A; Hussain, K; Hall, J; Saudubray, JM; Nihoul-Fekete, C; De Lonlay-Debeney, P; Brunelle, F; Otonkoski, T; Thornton, P; Lindley, KJ
      Practical management of hyperinsulinism in infancy

      ARCHIVES OF DISEASE IN CHILDHOOD
    29. de Lonlay-Debeney, P; Robert, JJ; Saudubray, JM
      Molecular basis of hyperinsulinisms

      ANNALES D ENDOCRINOLOGIE
    30. Bonnefont, JP; Demaugre, F; Prip-Buus, C; Saudubray, JM; Brivet, M; Abadi, N; Thuillier, L
      Carnitine palmitoyltransferase deficiencies

      MOLECULAR GENETICS AND METABOLISM
    31. Rizk, C; Valdes, L; de Baulny, HO; Saudubray, JM; Olivier, C
      Severe lactic acidosis reveals an allergy to cow milk.

      ARCHIVES DE PEDIATRIE
    32. de Baulny, HO; Husson, I; Castelnau, P; Saudubray, JM
      Diagnosing states of ketosis in pediatrics

      ARCHIVES DE PEDIATRIE
    33. Parfait, B; de Lonlay, P; von Kleist-Retzow, JC; Cormier-Daire, V; Chretien, D; Rotig, A; Rabier, D; Saudubray, JM; Rustin, P; Munnich, A
      The neurogenic weakness, ataxia and retinitis pigmentosa (NARP) syndrome mtDNA mutation (T8993G) triggers muscle ATPase deficiency and hypocitrullinaemia

      EUROPEAN JOURNAL OF PEDIATRICS
    34. Saudubray, JM; Touati, G; Delonlay, P; Jouvet, P; Narcy, C; Laurent, J; Rabier, D; Kamoun, P; Jan, D; Revillon, Y
      Liver transplantation in urea cycle disorders

      EUROPEAN JOURNAL OF PEDIATRICS
    35. Wendel, U; Saudubray, JM; Bodner, A; Schadewaldt, P
      Liver transplantation in maple syrup urine disease

      EUROPEAN JOURNAL OF PEDIATRICS
    36. Saudubray, JM; Touati, G; Delonlay, P; Jouvet, P; Schlenzig, J; Narcy, C; Laurent, J; Rabier, D; Kamoun, P; Jan, D; Revillon, Y
      Liver transplantation in propionic acidaemia

      EUROPEAN JOURNAL OF PEDIATRICS
    37. Sokal, EM; Sokol, R; Cormier, V; Lacaille, F; McKiernan, P; Van Spronsen, FJ; Bernard, O; Saudubray, JM
      Liver transplantation in mitochondrial respiratory chain disorders

      EUROPEAN JOURNAL OF PEDIATRICS
    38. Rouillac, C; Aral, B; Fouque, F; Marchant, D; Saudubray, JM; Dumez, Y; Lindsay, G; Abitbol, M; Dufier, JL; Marsac, C; Benelli, C
      First prenatal diagnosis of defects in the HsPDX1 gene encoding protein X,an additional lipoyl-containing subunit of the human pyruvate dehydrogenase complex

      PRENATAL DIAGNOSIS
    39. de Lonlay-Debeney, P; Edery, P; Cormier-Daire, V; Parfait, B; Chretien, D; Rotig, A; Romero, N; Saudubray, JM; Munnich, A; Rustin, P
      Respiratory chain deficiency presenting as recurrent myoglobinuria in childhood

      NEUROPEDIATRICS
    40. Brivet, M; Boutron, A; Slama, A; Costa, C; Thuillier, L; Demaugre, F; Rabier, D; Saudubray, JM; Bonnefont, JP
      Defects in activation and transport of fatty acids

      JOURNAL OF INHERITED METABOLIC DISEASE
    41. Saudubray, JM; Martin, D; de Lonlay, P; Touati, G; Poggi-Travert, F; Bonnet, D; Jouvet, P; Boutron, M; Slama, A; Vianey-Saban, C; Bonnefont, JP; Rabier, D; Kamoun, P; Brivet, M
      Recognition and management of fatty acid oxidation defects: A series of 107 patients

      JOURNAL OF INHERITED METABOLIC DISEASE
    42. Costa, C; Costa, JM; Nuoffer, JM; Slama, A; Boutron, A; Saudubray, JM; Legrand, A; Brivet, M
      Identification of the molecular defect in a severe case of carnitine-acylcarnitine carrier deficiency

      JOURNAL OF INHERITED METABOLIC DISEASE
    43. Bodemer, C; Rotig, A; Rustin, P; Cormier, V; Niaudet, P; Saudubray, JM; Rabier, D; Munnich, A; de Prost, Y
      Hair and skin disorders as signs of mitochondrial disease

      PEDIATRICS
    44. Saudubray, JM; de Lonlay-Debeney, P; Robert, JJ
      Clinical features of neonates with hyperinsulinism - Reply

      NEW ENGLAND JOURNAL OF MEDICINE
    45. de Lonlay-Debeney, P; Poggi-Travert, F; Fournet, JC; Sempoux, C; Vici, CD; Brunelle, F; Touati, G; Rahier, J; Junien, C; Nihoul-Fekete, C; Robert, JJ; Saudubray, JM
      Clinical features of 52 neonates with hyperinsulinism

      NEW ENGLAND JOURNAL OF MEDICINE
    46. de Lonlay, P; Cuer, M; Vuillaumier-Barrot, S; Beaune, G; Castelnau, P; Kretz, M; Durand, G; Saudubray, JM; Seta, N
      Hypersulinemic hypoglycemia as a presenting sign in phosphomannose isomerase deficiency: A new manifestation of carbohydrate-deficient glycoprotein syndrome treatable with mannose

      JOURNAL OF PEDIATRICS
    47. Bonnet, D; Martin, D; de Lonlay, P; Villain, E; Jouvet, P; Rabier, D; Brivet, M; Saudubray, JM
      Arrhythmias and conduction defects as presenting symptoms of fatty acid oxidation disorders in children

      CIRCULATION
    48. DELONLAY P; FOURNET JC; VERKARRE V; RAHIER J; JUNIEN C; NIHOULFEKETE C; ROBERT JJ; SAUDUBRAY JM
      SYNDROME OF CONGENITAL HYPERINSULINISM AND HYPERAMMONEMIA IN 6 UNRELATED PATIENTS

      European journal of human genetics
    49. DELONLAY P; FOURNET JC; VERKARRE V; RAHIER J; ROBERT JJ; NIHOULFEKETE C; SAUDUBRAY JM; JUNIEN C
      PERSISTENT HYPERINSULINEMIC HYPOGLYCEMIA OF INFANCY (PHHI) IS A HETEROGENEOUS DISORDER WITH 2 HISTOLOGICAL FORMS AND DIFFERENT MOLECULAR-BASIS

      European journal of human genetics
    50. MATTHIJS G; SCHOLLEN E; SAUDUBRAY JM; DELONLAY P; DIONISIVICI C; BERTINI E; HENRI H; CASSIMAN JJ; JAEKEN J; VANSCHAFTINGEN E
      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
    51. FERRONI A; ODIEVRE MH; ABACHIN E; REVY P; CASANOVA JL; SAUDUBRAY JM; BERCHE P; NASSIF X
      MENINGITIS DUE TO BACILLUS-CEREUS IN AN INFANT WITH REYE-SYNDROME

      Archives de pediatrie
    52. de Lonlay-Debeney, P; Fournet, JC; Martin, D; Poggi, F; Vicci, CD; Spada, M; Touati, G; Rahier, J; Brunelle, F; Junien, C; Robert, JJ; Nihoul-Fekete, C; Saudubray, JM
      Persistent hypoglycaemia due to hyperinsulinism in newborns and infants.

      ARCHIVES DE PEDIATRIE
    53. SEMPOUX C; GUIOT Y; DUBOIS D; NOLLEVAUX MC; SAUDUBRAY JM; NIHOULFEKETE C; RAHIER J
      PANCREATIC B-CELL PROLIFERATION IN PERSISTENT HYPERINSULINEMIC HYPOGLYCEMIA OF INFANCY - AN IMMUNOHISTOCHEMICAL STUDY OF 18 CASES

      Modern pathology
    54. BAUMGARTNER MR; POLLTHE BT; VERHOEVEN NM; JAKOBS C; ESPEEL M; ROELS F; RABIER D; LEVADE T; ROLLAND MO; MARTINEZ M; WANDERS RJA; SAUDUBRAY JM
      CLINICAL APPROACH TO INHERITED PEROXISOMAL DISORDERS - A SERIES OF 27PATIENTS

      Annals of neurology
    55. TOUATI G; POGGITRAVERT F; DEBAULNY HO; RAHIER J; BRUNELLE F; NIHOULFEKETE C; CZERNICHOW P; SAUDUBRAY JM
      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
    56. KAMOUN P; RABIER D; SAUDUBRAY JM
      MUSCULAR ORIGIN OF HYPERAMMONEMIA

      European journal of pediatrics
    57. DEBAULNY HO; GERARD M; SAUDUBRAY JM; ZITTOUN J
      REMETHYLATION DEFECTS - GUIDELINES FOR CLINICAL-DIAGNOSIS AND TREATMENT

      European journal of pediatrics
    58. RAHIER J; SEMPOUX C; FOURNET JC; POGGI F; BRUNELLE F; NIHOULFEKETE C; SAUDUBRAY JM; JAUBERT F
      PARTIAL OR NEAR-TOTAL PANCREATECTOMY FOR PERSISTENT NEONATAL HYPERINSULINEMIC HYPOGLYCEMIA - THE PATHOLOGISTS ROLE

      Histopathology
    59. GARIEPY J; MEGNIEN JL; SAUDUBRAY JM; NUOFFER JM; LEVENSON J; SIMON A
      EVIDENCE OF CAROTID WALL THICKENING IN SUBJECTS WITH HOMOZYGOUS HOMOCYSTINURIA BUT NOT IN THEIR HETEROZYGOUS PARENTS

      Journal of hypertension
    60. VABRES P; SEVIN C; AMORIC JC; ODIEVRE MH; SAUDUBRAY JM; DEPROST Y
      CUTANEOUS MANIFESTATIONS OF TYPE-I (CARBOHYDRATE-DEFICIENT GLYCOPROTEIN)

      Annales de dermatologie et de venereologie
    61. VERHOEVEN NM; WANDERS RJA; POLLTHE BT; SAUDUBRAY JM; JAKOBS C
      THE METABOLISM OF PHYTANIC ACID AND PRISTANIC ACID IN MAN - A REVIEW

      Journal of inherited metabolic disease
    62. RABIER D; DIRY C; ROTIG A; RUSTIN P; HERON B; BARDET J; PARVY P; PONSOT G; MARSAC C; SAUDUBRAY JM; MUNNICH A; KAMOUN P
      PERSISTENT HYPOCITRULLINAEMIA AS A MARKER FOR MTDNA NARP T-8993 G-MUTATION

      Journal of inherited metabolic disease
    63. BAUMGARTNER MR; VERHOEVEN NM; JAKOBS C; ROELS F; ESPEEL M; MARTINEZ M; RABIER D; WANDERS RJA; SAUDUBRAY JM
      DEFECTIVE PEROXISOME BIOGENESIS WITH A NEUROMUSCULAR DISORDER RESEMBLING WERDNIG-HOFFMANN-DISEASE

      Neurology
    64. VERKARRE V; FOURNET JC; DELONLAY P; GROSSMORAND MS; DEVILLERS M; RAHIER J; BRUNELLE F; ROBERT JJ; NIHOULFEKUTE C; SAUDUBRAY JM; JUNIEN C
      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
    65. SEMPOUX C; GUIOT Y; LEFEVRE A; NIHOULFEKETE C; JAUBERT F; SAUDUBRAY JM; RAHIER J
      NEONATAL HYPERINSULINEMIC HYPOGLYCEMIA - HETEROGENEITY OF THE SYNDROME AND KEYS FOR DIFFERENTIAL-DIAGNOSIS

      The Journal of clinical endocrinology and metabolism
    66. MEGNIEN JL; GARIEPY J; SAUDUBRAY JM; NUOFFER JM; DENARIE N; LEVENSON J; SIMON A
      EVIDENCE OF CAROTID-ARTERY WALL HYPERTROPHY IN HOMOZYGOUS HOMOCYSTINURIA

      Circulation
    67. Fournet, JC; Verkarre, V; de Lonlay, P; Rahier, J; Brunelle, F; Robert, JJ; Nihoul-Fekete, C; Saudubray, JM; Junien, C
      Loss of imprinted genes and paternal SUR1 mutations lead to hyperinsulinism in focal adenomatous hyperplasia

      ANNALES D ENDOCRINOLOGIE
    68. JAEKEN J; MATTHIJS G; SAUDUBRAY JM; DIONISIVICI C; BERTINI E; DELONLAY P; HENRI H; CARCHON H; SCHOLLEN E; VANSCHAFTINGEN E
      PHOSPHOMANNOSE ISOMERASE DEFICIENCY - A CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME WITH HEPATIC-INTESTINAL PRESENTATION

      American journal of human genetics
    69. KAMOUN P; ARAL B; SAUDUBRAY JM
      A NEW INHERITED METABOLIC DISEASE - DELTA -1-PYRROLINE 5-CARBOXYLATE SYNTHETASE DEFICIENCY

      Bulletin de l'Academie nationale de medecine
    70. Fournet, JC; De Lonlay, P; Verkarre, V; Gross-Morand, MS; Rahier, J; Brunelle, F; Roberts, JJ; Nihoul-Fekete, C; Saudubray, JM; Junien, C
      Endocrine tumors - Somatic recessive diseases

      EUROCANCER 98
    71. 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
      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
    72. BOCQUET N; BOILEAU P; CASTANET M; GAUTIER I; LAMBOLEY G; RICHARD E; DETOURNEMIRE R; SAUDUBRAY JM
      MUNCHAUSEN-SYNDROME BY PROXY

      Archives de pediatrie
    73. SEVIN C; MARTIN D; RABIER D; BRIVET M; SAUDUBRAY JM
      RECENT PROGRESS IN THE DIAGNOSIS OF NEONATAL AND INFANTILE DISEASES

      Archives de pediatrie
    74. MAZZELLA M; CERONE R; BONACCI W; CARUSO U; MUNNICH A; RUSTIN P; SAUDUBRAY JM; ROMANO C; SERRA G
      SEVERE COMPLEX-I DEFICIENCY IN A CASE OF NEONATAL-ONSET LACTIC-ACIDOSIS AND FATAL LIVER-FAILURE

      Acta paediatrica
    75. 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
      BIOCHEMICAL-STUDIES AND GENETIC-STUDIES OF 4 PATIENTS WITH PYRUVATE-DEHYDROGENASE-E1-ALPHA DEFICIENCY

      Human genetics
    76. JAKOBS C; KNEER J; MARTIN D; BOULLOCHE J; BRIVET M; POLLTHE BT; SAUDUBRAY JM
      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
    77. JOUVET P; POGGI F; RABIER D; MICHEL JL; HUBERT P; SPOSITO M; SAUDUBRAY JM; MAN NK
      CONTINUOUS VENOVENOUS HEMODIAFILTRATION IN THE ACUTE-PHASE OF NEONATAL MAPLE-SYRUP-URINE-DISEASE

      Journal of inherited metabolic disease
    78. JAEKEN J; ARTIGAS J; BARONE R; FIUMARA A; DEKONING TJ; POLLTHE BT; DERIJKVANANDEL JF; HOFFMANN GF; ASSMANN B; MAYATEPEK E; PINEDA M; VILASECA MA; SAUDUBRAY JM; SCHLUTER B; WEVERS R; VANSCHAFTINGEN E
      PHOSPHOMANNOMUTASE DEFICIENCY IS THE MAIN CAUSE OF CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME WITH TYPE-I ISOELECTROFOCUSING PATTERN OF SERUM SIALOTRANSFERRINS

      Journal of inherited metabolic disease
    79. DELONLAY P; FOURNET JC; RAHIER J; GROSSMORAND MS; POGGITRAVERT F; FOUSSIER V; BONNEFONT JP; BRUSSET MC; BRUNELLE F; ROBERT JJ; NIHOULFEKETE C; SAUDUBRAY JM; JUNIEN C
      SOMATIC DELETION OF THE IMPRINTED 11P15 REGION IN SPORADIC PERSISTENTHYPERINSULINEMIC HYPOGLYCEMIA OF INFANCY IS SPECIFIC OF FOCAL ADENOMATOUS HYPERPLASIA AND ENDORSES PARTIAL PANCREATECTOMY

      The Journal of clinical investigation
    80. SIMON AC; MEGNIEN JL; GARIEPY J; SAUDUBRAY JM; RABIER D; LEVENSON J
      STRUCTURAL AND ELASTIC RESPONSES OF CAROTID ARTERIAL-WALLS TO HOMOCYSTINURIA

      Circulation
    81. BONNET D; MARTIN D; POGGITRAVERT F; VILLAIN E; KACHANER J; ACAR P; SAUDUBRAY JM
      ARRHYTHMIAS AND CONDUCTION DEFECTS AS A PRESENTING SYMPTOM OF FATTY-ACID OXIDATION DISORDERS IN CHILDREN

      Circulation
    82. DELONLAY P; FOURNET JC; VERKARRE V; RAHIER J; GROSSMORAND MS; BRUNELLE F; ROBERT JJ; NIHOULFEKETE C; SAUDUBRAY JM; JUNIEN C
      SOMATIC DELETION OF THE IMPRINTED 11P15 REGION IN SPORADIC PERSISTENTHYPERINSULINEMIC HYPOGLYCEMIA OF INFANCY IS SPECIFIC OF FOCAL ADENOMATOUS HYPERPLASIA

      American journal of human genetics
    83. THUILLIER L; SEVIN C; DEMAUGRE F; SAUDUBRAY JM; RABIER D; BRIVET M; DROUIN V; CADOUDAL M; BONNEFONT JP
      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
    84. SEGUES B; VEBER PS; RABIER D; CALVAS P; SAUDUBRAY JM; GILBERTDUSSARDIER B; BONNEFONT JP; MUNNICH A
      A 3-BASE PAIR IN-FRAME DELETION IN EXON-8 (DELGLU272 273) OF THE ORNITHINE TRANSCARBAMYLASE GENE IN LATE-ONSET HYPERAMMONEMIC COMA/

      Human mutation
    85. DUPUIS L; LEONDELRIO A; LECLERC D; CAMPEAU E; SWEETMAN L; SAUDUBRAY JM; HERMAN G; GIBSON KM; GRAVEL RA
      CLUSTERING OF MUTATIONS IN THE BIOTIN-BINDING REGION OF HOLOCARBOXYLASE SYNTHETASE IN BIOTIN-RESPONSIVE MULTIPLE CARBOXYLASE DEFICIENCY

      Human molecular genetics
    86. MUNNICH A; ROTIG A; CHRETIEN D; SAUDUBRAY JM; CORMIER V; RUSTIN P
      CLINICAL PRESENTATIONS AND LABORATORY INVESTIGATIONS IN RESPIRATORY-CHAIN DEFICIENCY

      European journal of pediatrics
    87. 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
      CLINICAL OUTCOME AND LONG-TERM MANAGEMENT OF 17 PATIENTS WITH PROPIONIC ACIDEMIA

      European journal of pediatrics
    88. BURNS SP; ILES RA; SAUDUBRAY JM; CHALMERS RA
      PROPIONYLCARNITINE EXCRETION IS NOT AFFECTED BY METRONIDAZOLE ADMINISTRATION TO PATIENTS WITH DISORDERS OF PROPIONATE METABOLISM

      European journal of pediatrics
    89. MANDELL R; PACKMAN S; LAFRAMBOISE R; GOLBUS MS; SCHMIDT K; WORKMAN L; SAUDUBRAY JM; SHIH VE
      USE OF AMNIOTIC-FLUID AIMING ACIDS IN PRENATAL TESTING FOR ARGININOSUCCINIC ACIDURIA AND CITRULLINEMIA

      Prenatal diagnosis
    90. POGGITRAVERT F; MARTIN D; DEVILLEMEUR TB; BONNEFONT JP; VASSAULT A; RABIER D; CHARPENTIER C; KAMOUN P; MUNNICH A; SAUDUBRAY JM
      METABOLIC INTERMEDIATES IN LACTIC-ACIDOSIS - COMPOUNDS, SAMPLES AND INTERPRETATION

      Journal of inherited metabolic disease
    91. MUNNICH A; ROTIG A; CHRETIEN D; CORMIER V; BOURGERON T; BONNEFONT JP; SAUDUBRAY JM; RUSTIN P
      CLINICAL PRESENTATION OF MITOCHONDRIAL DISORDERS IN CHILDHOOD

      Journal of inherited metabolic disease
    92. BRIVET M; SLAMA A; MILLINGTON DS; ROE CR; DEMAUGRE F; LEGRAND A; BOUTRON A; POGGI F; SAUDUBRAY JM
      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
    93. KUCHLER G; RABIER D; POGGITRAVERT F; MEYERGAST D; BARDET J; DROUIN V; CADOUDAL M; SAUDUBRAY JM
      THERAPEUTIC USE OF CARBAMYLGLUTAMATE IN THE CASE OF CARBAMOYL-PHOSPHATE SYNTHETASE DEFICIENCY

      Journal of inherited metabolic disease
    94. GEOFFROY V; FOUQUE F; BENELLI C; POGGI F; SAUDUBRAY JM; LISSENS W; MEIRLEIR LD; MARSAC C; LINDSAY JG; SANDERSON SJ
      DEFECT IN THE X-LIPOYL-CONTAINING COMPONENT OF THE PYRUVATE-DEHYDROGENASE COMPLEX IN A PATIENT WITH A NEONATAL LACTIC ACIDEMIA

      Pediatrics
    95. SLAMA A; BRIVET M; BOUTRON A; LEGRAND A; SAUDUBRAY JM; DEMAUGRE F
      COMPLEMENTATION ANALYSIS OF CARNITINE PALMITOYLTRANSFERASE-I AND PALMITOYLTRANSFERASE-II DEFECTS

      Pediatric research
    96. BONNEFONT JP; TARONI F; CAVADINI P; CEPANEC C; BRIVET M; SAUDUBRAY JM; LEROUX JP; DEMAUGRE F
      MOLECULAR ANALYSIS OF CARNITINE PALMITOYLTRANSFERASE-II DEFICIENCY WITH HEPATOCARDIOMUSCULAR EXPRESSION

      American journal of human genetics
    97. SAUNIER P; CHRETIEN D; WOOD C; ROTIG A; BONNEFONT JP; SAUDUBRAY JM; RABIER D; MUNNICH A; RUSTIN P
      CYTOCHROME-C-OXIDASE DEFICIENCY PRESENTING AS RECURRENT NEONATAL MYOGLOBINURIA

      Neuromuscular disorders
    98. JOUVET P; POGGI F; SAUDUBRAY JM
      CONTINUOUS VENOVENOUS HEMOFILTRATION IN THE ACUTE TREATMENT OF INBORN-ERRORS OF METABOLISM

      Pediatric nephrology
    99. DEPAILLERETS F; DEHAN M; BEAUFILS F; BADOUAL J; SAUDUBRAY JM
      THE CHILD AND HIS DOCTOR

      Archives de pediatrie
    100. SEMPOUX C; POGGI F; BRUNELLE F; SAUDUBRAY JM; FEKETE C; RAHIER J
      NESIDIOBLASTOSIS AND PERSISTENT NEONATAL HYPERINSULINISM

      Diabete et metabolisme


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 31/10/20 alle ore 14:35:04