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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
   
   P. de Lonlay et al., "A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure", NAT GENET, 29(1), 2001, pp. 57-60
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
   
   N.B. Romero et al., "Pseudo-metabolic presentation in a Duchenne muscular dystrophy symptomaticcarrier with 'de novo' duplication of dystrophin gene", NEUROMUSC D, 11(5), 2001, pp. 494-498
3. de Lonlay-Debeney, P; Fournet, JC; Touati, G; Robert, JJ; Junien, C; Saudubray, JM
   Hyperinsulinism
   ARCHIVES DE PEDIATRIE
   
   P. de Lonlay-Debeney et al., "Hyperinsulinism", ARCH PED, 8, 2001, pp. 298S-300S
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
   
   V. Chigot et al., "Pancreatic arterial calcium stimulation in the diagnosis and localisation of persistent hyperinsulinemic hypoglycaemia of infancy", PEDIAT RAD, 31(9), 2001, pp. 650-655
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
   
   M. Gauthier-Villars et al., "Respiratory chain deficiency in Alpers syndrome", NEUROPEDIAT, 32(3), 2001, pp. 150-152
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
   
   F. Menni et al., "Neurologic outcomes of 90 neonates and infants with persistent hyperinsulinemic hypoglycemia", PEDIATRICS, 107(3), 2001, pp. 476-479
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
   
   P. De Lonlay et al., "Hyperinsulinism and hyperammonemia syndrome: Report of twelve unrelated patients", PEDIAT RES, 50(3), 2001, pp. 353-357
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
   
   P. de Lonlay et al., "A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases", J MED GENET, 38(1), 2001, pp. 14-19
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
   
   C. MacMullen et al., "Hyperinsulinism/hyperammonemia syndrome in children with regulatory mutations in the inhibitory guanosine triphosphate-binding domain of glutamate dehydrogenase", J CLIN END, 86(4), 2001, pp. 1782-1787
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
    
    J.C. Fournet et al., "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", AM J PATH, 158(6), 2001, pp. 2177-2184
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
    
    P. Benit et al., "Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency", AM J HU GEN, 68(6), 2001, pp. 1344-1352
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
    
    M. Aebi et al., "Carbohydrate-deficient glycoprotein syndromes become congenital disorders of glycosylation: an updated nomenclature for CDG", GLYCOBIOLOG, 10(6), 2000, pp. III-V
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
    
    T. Dupre et al., "Defect in N-glycosylation of proteins is tissue-dependent in congenital disorders of glycosylation Ia", GLYCOBIOLOG, 10(12), 2000, pp. 1277-1281
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
    
    P. de Lonlay et al., ""Carbohydrate-deficient glycoprotein" syndrome.", ARCH PED, 7(2), 2000, pp. 173-184
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
    
    J.M. Nuoffer et al., "Familial neonatal SIDS revealing carnitine-acylcarnitine translocase deficiency", EUR J PED, 159(1-2), 2000, pp. 82-85
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
    
    P. De Lonlay et al., "Tyrosine hydroxylase deficiency unresponsive to L-dopa treatment with unusual clinical and biochemical presentation", J INH MET D, 23(8), 2000, pp. 819-825
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
    
    J.M. Saudubray et al., "Genetic hypoglycaemia in infancy and childhood: Pathophysiology and diagnosis", J INH MET D, 23(3), 2000, pp. 197-214
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
    
    P. de Lonlay-Debeney et al., "Cerebral white matter disease in children may be caused by mitochondrial respiratory chain deficiency", J PEDIAT, 136(2), 2000, pp. 209-214
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
    
    S. Vuillaumier-Barrot et al., "Identification of four novel PMM2 mutations in congenital disorders of glycosylation (CDG) Ia French patients", J MED GENET, 37(8), 2000, pp. 579-580
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
    
    A. Aynsley-Green et al., "Practical management of hyperinsulinism in infancy", ARCH DIS CH, 82(2), 2000, pp. F98-F107
21. de Lonlay-Debeney, P; Robert, JJ; Saudubray, JM
    Molecular basis of hyperinsulinisms
    ANNALES D ENDOCRINOLOGIE
    
    P. de Lonlay-Debeney et al., "Molecular basis of hyperinsulinisms", ANN ENDOCR, 61(2), 2000, pp. 139-139
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
    
    N. Seta et al., "Mannose metabolism and carbohydrate deficient glycoprotein syndrome type I", M S-MED SCI, 15(11), 1999, pp. 1202-1210
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
    
    I. Valnot et al., "A mitochondrial cytochrome b mutation but no mutations of nuclearly encoded subunits in ubiquinol cytochrome c reductase (complex III) deficiency", HUM GENET, 104(6), 1999, pp. 460-466
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
    
    B. Parfait et al., "The neurogenic weakness, ataxia and retinitis pigmentosa (NARP) syndrome mtDNA mutation (T8993G) triggers muscle ATPase deficiency and hypocitrullinaemia", EUR J PED, 158(1), 1999, pp. 55-58
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
    
    P. de Lonlay-Debeney et al., "Respiratory chain deficiency presenting as recurrent myoglobinuria in childhood", NEUROPEDIAT, 30(1), 1999, pp. 42-44
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
    
    J. Amiel et al., "Facial anomalies in D-2-hydroxyglutaric aciduria", AM J MED G, 86(2), 1999, pp. 124-129
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
    
    M.S. van der Knaap et al., "D-2-hydroxyglutaric aciduria: Further clinical delineation", J INH MET D, 22(4), 1999, pp. 404-413
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
    
    J.M. Saudubray et al., "Recognition and management of fatty acid oxidation defects: A series of 107 patients", J INH MET D, 22(4), 1999, pp. 488-502
29. Saudubray, JM; de Lonlay-Debeney, P; Robert, JJ
    Clinical features of neonates with hyperinsulinism - Reply
    NEW ENGLAND JOURNAL OF MEDICINE
    
    J.M. Saudubray et al., "Clinical features of neonates with hyperinsulinism - Reply", N ENG J MED, 341(9), 1999, pp. 701-702
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
    
    P. de Lonlay-Debeney et al., "Clinical features of 52 neonates with hyperinsulinism", N ENG J MED, 340(15), 1999, pp. 1169-1175
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
    
    P. de Lonlay et al., "Hypersulinemic hypoglycemia as a presenting sign in phosphomannose isomerase deficiency: A new manifestation of carbohydrate-deficient glycoprotein syndrome treatable with mannose", J PEDIAT, 135(3), 1999, pp. 379-383
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
    
    C. Picard et al., "Scalp-ear-nipple (Finlay-Marks) syndrome: a familial case with renal involvement", CLIN GENET, 56(2), 1999, pp. 170-172
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
    
    D. Bonnet et al., "Arrhythmias and conduction defects as presenting symptoms of fatty acid oxidation disorders in children", CIRCULATION, 100(22), 1999, pp. 2248-2253
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
    
    D. Bonnet et al., "Metabolic and genetic investigations of cardiomyopathy in childhood.", ARCH MAL C, 92(11), 1999, pp. 1509-1514
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
    
    P. de Lonlay-Debeney et al., "Persistent hypoglycaemia due to hyperinsulinism in newborns and infants.", ARCH PED, 5(12), 1998, pp. 1347-1352
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
    
    J.C. Fournet et al., "Loss of imprinted genes and paternal SUR1 mutations lead to hyperinsulinism in focal adenomatous hyperplasia", ANN ENDOCR, 59(6), 1998, pp. 485-491
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
    
    J.C. Fournet et al., "Endocrine tumors - Somatic recessive diseases", EUROCANCER 98, 1998, pp. 117-118