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    1. de Lonlay, P; Valnot, I; Barrientos, A; Gorbatyuk, M; Tzagoloff, A; Taanman, JW; Benayoun, E; Chretien, D; Kadhom, N; Lombes, A; de Baulny, HO; Niaudet, P; Munnich, M; Rustin, P; Rotig, A
      A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure

      NATURE GENETICS
    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. de Lonlay-Debeney, P; Fournet, JC; Touati, G; Robert, JJ; Junien, C; Saudubray, JM
      Hyperinsulinism

      ARCHIVES DE PEDIATRIE
    4. 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
    5. Gauthier-Villars, M; Landrieu, P; Cormier-Daire, V; Jacquemin, E; Chretien, D; Rotig, A; Rustin, P; Munnich, A; de Lonlay, P
      Respiratory chain deficiency in Alpers syndrome

      NEUROPEDIATRICS
    6. 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
    7. 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
    8. 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
    9. 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
    10. 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
    11. Benit, P; Chretien, D; Kadhom, N; de Lonlay-Debeney, P; Cormier-Daire, V; Cabral, A; Peudenier, S; Rustin, P; Munnich, A; Rotig, A
      Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency

      AMERICAN JOURNAL OF HUMAN GENETICS
    12. Aebi, M; Helenius, A; Schenk, B; Barone, R; Fiumara, A; Berger, EG; Hennet, T; Imbach, T; Stutz, A; Bjursell, C; Uller, A; Wahlstrom, JG; Briones, P; Cardo, E; Clayton, P; Winchester, B; Cormier-Daire, V; de Lonlay, P; Cuer, M; Dupre, T; Seta, N; de Koning, T; Dorland, L; de Loos, F; Kupers, L; Fabritz, L; Hasilik, M; Marquardt, T; Niehues, R; Freeze, H; Grunewald, S; Heykants, L; Jaeken, J; Matthijs, G; Schollen, E; Keir, G; Kjaergaard, S; Schwartz, M; Skovby, F; Klein, A; Roussel, P; Korner, C; Lubke, T; Thiel, C; von Figura, K; Koscielak, J; Krasnewich, D; Lehle, L; Peters, V; Raab, M; Saether, O; Schachter, H; Van Schaftingen, E; Verbert, A; Vilaseca, A; Wevers, R; Yamashita, K
      Carbohydrate-deficient glycoprotein syndromes become congenital disorders of glycosylation: an updated nomenclature for CDG

      GLYCOBIOLOGY
    13. Dupre, T; Barnier, A; de Lonlay, P; Cormier-Daire, V; Durand, G; Codogno, P; Seta, N
      Defect in N-glycosylation of proteins is tissue-dependent in congenital disorders of glycosylation Ia

      GLYCOBIOLOGY
    14. 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
    15. 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
    16. 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
    17. 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
    18. 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
    19. Vuillaumier-Barrot, S; Hetet, G; Barnier, A; Dupre, T; Cuer, M; de Lonlay, P; Cormier-Daire, V; Durand, G; Grandchamp, B; Seta, N
      Identification of four novel PMM2 mutations in congenital disorders of glycosylation (CDG) Ia French patients

      JOURNAL OF MEDICAL GENETICS
    20. 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
    21. de Lonlay-Debeney, P; Robert, JJ; Saudubray, JM
      Molecular basis of hyperinsulinisms

      ANNALES D ENDOCRINOLOGIE
    22. Seta, N; Dupre, T; Cormier-Daire, V; de Lonlay, P; Moore, S; Durand, G; Codogno, P
      Mannose metabolism and carbohydrate deficient glycoprotein syndrome type I

      M S-MEDECINE SCIENCES
    23. Valnot, I; Kassis, J; Chretien, D; de Lonlay, P; Parfait, B; Munnich, A; Kachaner, J; Rustin, P; Rotig, A
      A mitochondrial cytochrome b mutation but no mutations of nuclearly encoded subunits in ubiquinol cytochrome c reductase (complex III) deficiency

      HUMAN GENETICS
    24. 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
    25. 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
    26. Amiel, J; de Lonlay, P; Francannet, C; Picard, A; Bruel, H; Rabier, D; Le Merrer, M; Verhoeven, N; Jakobs, C; Lyonnet, S; Munnich, A
      Facial anomalies in D-2-hydroxyglutaric aciduria

      AMERICAN JOURNAL OF MEDICAL GENETICS
    27. van der Knaap, MS; Jakobs, C; Hoffmann, GF; Duran, M; Muntau, AC; Schweitzer, S; Kelley, RI; Parrot-Roulaud, F; Amiel, J; De Lonlay, P; Rabier, D; Eeg-Olofsson, O
      D-2-hydroxyglutaric aciduria: Further clinical delineation

      JOURNAL OF INHERITED METABOLIC DISEASE
    28. 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
    29. Saudubray, JM; de Lonlay-Debeney, P; Robert, JJ
      Clinical features of neonates with hyperinsulinism - Reply

      NEW ENGLAND JOURNAL OF MEDICINE
    30. 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
    31. 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
    32. Picard, C; Couderc, S; Skojaei, T; Salomon, R; de Lonlay, P; Le Merrer, M; Munnich, A; Lyonnet, S; Amiel, J
      Scalp-ear-nipple (Finlay-Marks) syndrome: a familial case with renal involvement

      CLINICAL GENETICS
    33. 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
    34. Bonnet, D; Rustin, P; Rotig, A; de Lonlay, P; Viot, G; Munnich, A; Sidi, D
      Metabolic and genetic investigations of cardiomyopathy in childhood.

      ARCHIVES DES MALADIES DU COEUR ET DES VAISSEAUX
    35. 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
    36. 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
    37. 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


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 28/01/21 alle ore 09:51:15