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2008

42.  Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. ZURFLÜH MR, ZSCHOCKE J, LINDNER M, FEILLET F, CHERY C, BURLINA A, STEVENS RC, THÖNY B, BLAU N. Hum Mutat. 2008 Jan;29(1):167-75.

43.  Evidence of cataplerosis in a patient with neonatal classical galactosemia presenting as citrin deficiency. FEILLET F, MERTEN M, BATTAGLIA-HSU SF, RABIER D, KOBAYASHI K, STRACZEK J, BRIVET M, FAVRE E, GUEANT JL. J Hepatol. 2008 Mar;48(3):517-22.

44.  Evaluation of neonatal BH4 loading test in neonates screened for hyperphenylalaninemia. FEILLET F, CHERY C, NAMOUR F, KIMMOUN A, FAVRE E, LORENTZ E, BATTAGLIA-HSU SF, GUEANT JL. Early Hum Dev. 2008 Mar 3.

45.  Hereditary fructose intolerance: frequency and spectrum mutations of the aldolase B gene in a large patients cohort from France--identification of eight new mutations. DAVIT-SPRAUL A, COSTA C, ZATER M, HABES D, BERTHELOT J, BROUE P, FEILLET F, BERNARD O, LABRUNE P, BAUSSAN C. Mol Genet Metab. 2008 Aug;94(4):443-7.

46.  Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. ZURFLÜH MR, ZSCHOCKE J, LINDNER M, FEILLET F, CHERY C, BURLINA A, STEVENS RC, THÖNY B, BLAU N. Hum Mutat. 2008 Jun 20;29(8):1079.

47.  Acute decompensation of isovaleric acidemia induced by Graves' disease. KIMMOUN A, ABBOUD G, STRAZECK J, MERTEN M, GUÉANT JL, FEILLET F. Intensive Care Med. 2008 Jul 8.

48. Evidence of cataplerosis in a patient with neonatal classical galactosemia presenting as citrin deficiency: Reply. FEILLET F, GUÉANT JL. J Hepatol. 2008 Jul 9.

49. Evaluation of neonatal BH4 loading test in neonates screened for hyperphenylalaninemia. FEILLET, F CHERY C, NAMOUR F, ET AL. Early Hum Dev 2008;84(9):561-7.

50.  Pharmacokinetics of sapropterin in patients with phenylketonuria. Clin Pharmacokinet FEILLET, F CLARKE L, MELI C, ET AL. 2008;47(12):817-25.

 

51.  Spectrum of movement disorders associated with glutaric aciduria type 1: a study of 16 patients. GITIAUX C, ROZE E, KINUGAWA K, FEILLET, F  ET AL. Mov Disord 2008;23(16):2392-7.

 

52.  Safety and efficacy of 22 weeks of treatment with sapropterin dihydrochloride in patients with phenylketonuria. LEE P, TREACY EP, CROMBEZ E, FEILLET, F ET AL. Am J Med Genet A 2008;146A(22):2851-9.

 

53.  GARNOTEL, R. Le dépistage néonatal : nouveautés biologiques. Biologiste Infos, 2008, 31, 27

 

54.  GARNOTEL, R. Le dépistage néonatal : nouvelles possibilités en spectrométrie de masse en tandem. Ann. Biol. Clin., 2008, 66, 172-173.

 

55.  GARNOTEL, R. KUVBACHIEVA-BENNAROSH,A, BAKCHINE, S., GILLERY, P.Sarcosinaemia : a case report with evolutive neurologic symptoms.J. Inh. Met. Dis., 2008, 31, Suppl. 1, 4.

56.  GARNOTEL, R, BEDNAREK, N, MORVILLE, P., GILLERY, P.Defect of mitochondrial acetyl-CoA thiolase (MAT) : a case report. J. Inh. Met. Dis., 2008, 31, Suppl. 1, 17.

 

57.  GARNOTEL, R. MS/MS neonatal screening for genetic and metabolic disorders. Pipette, 2008, numéro 4, 22-23.

 

58.  PEYRIN-BIROULET L, GUEANT-RODRIGUEZ RM, CHEN M, BRONIWICKI JP, BIGARD MA, GUEANT JL. Association of MTRR 66A>G polymorphism with superoxide dismutase and disease activity in patients with Crohn's disease. Am. J. Gastroenterol., 2008, 103, 399-406

 

59.  LALONDE R, BARRAUD H, RAVEY J, GUEANT JL, BRONOWICKI JP, STRAZIELLE C
Effects of a B-vitamin-deficient diet on exploratory activity, motor coordination, and spatial learning in young adult Balb/c mice. Brain Res., 2008, 1188C, 122-131

 

60.  FEILLET F, MERTEN M, BATTAGLIA-HSU S, RABIER D, KOBAYASHI K, STRACZEK J, BRIVET M, FAVRE E,  GUEANT JL. Evidence of cataplerosis in a patient with neonatal classical galactosemia presenting as citrin deficiency. J. Hepatol., 2008, 48, 517-522

 

61.  BRONOWICKI JP, ABDELMOUTTALEB I, PEYRIN-BIROULET L, VENARD V, KHIRI H, CHABI N, AMOUZOU E, BARRAUD H, HALFON P, SANNI A, BIGARD MA, LE FAOU A, GUEANT JL. Methylenetetrahydrofolate reductase 677 T allele protects against persistent HBV infection, in West Africa. J. Hepatol., 2008, 4, 532-539

 

62.  LU X, FREUND JN, MULLER M; RAVEY J, NICOLAS JP, GUEANT JL, NAMOUR F. Differential regulation of CDX1 and CDX2 gene expression by deficiency in methyl group donors. Biochimie, 2008, 90, 697-704

 

63.  FEILLET F, CHERY C, NAMOUR F, KIMMOUN A, FAVRE E, LORENTZ E, BATTAGLIA-HSU S, GUEANT JL. Evaluation of neonatal BH4 loading test in neonates screened for hyperphenylalaninemia. Eary Human Dev., 2008, 84, 561-567

 

64.  CANDITO M, RIVET R, HERBETH B, BOISSON C, RUDIGOZ RC, LUTON D, JOURNEL H, OURY JF, ROUX F, SAURA R, VERNHET I, GAUCHERAND P, MULLER F, GIUDICELLI B, HECKENROTH H, POULAIN P, BLAYAU M, FRANCANNET C, ROSZYK L, BRUSTIE C, STACCINI P, GERARD P, FILLION-EMERY N, GUEANT-RODRIGUEZ RM, VAN OBBERGHEN E, GUEANT JL. Nutritional anf genetic determinants of vitamin B and homocysteine metabolisms in neural tube defects : A multicenter case-control study. Am. J. Med. Genet.A, 2008, 146 A, 1128-1133

 

65.  BECK B, POURIE C, GUEANT JL. Neuropeptides B, S and W, obestatin/grhelin-associated peptide, and others : really new feeding regulatory peptides ? Central Nervous System Agents in Medicinal Chemistry, 2008, 8, 29-36

 

66.  CHEN M, PEYRIN-BIROULET L, XIA B, RODRIGUEZ-GUEANT RM, BRONOWICKI JP, BIGARD MA, GUEANT JL. Methionine synthase A2756G polymorphism may predict ulcerative colitis and methylenetetrahydrofolate reductase C677T pancolitis, in Central China. BMC Med Genet, 2008, 9, 78

 

67.  KIMMOUN A, ABBOUD G, STRAZECK J, MERTEN M, GUEANT JL, FEILLET F
Acute decompensation of isovaleric acidemia induced by Grave's disease. Intensive Care Med, 2008, 24, 2315-2316

 

68.  FEILLET F, GUEANT JL. Evidence of cataplerosis in a patient with neonatal classical galactosemia presenting as citrin deficiency: Reply J. Hepatol., 2008, 49, 464

69.  FORGES T, PELLANDA H, DILIGENT C, MONNIER P, GUEANT JL. Do folates have an impact on fertility ? Gynecol. Obstet. Fertil., 2008, 36, 930-939

 

70.  GUEANT JL, GUEANT-RODRIGUEZ RM, GASTIN IA, CORNEJO-GARCIA JA, VIOLA M, BARBAUD A, MERTES PM, BLANCA M, ROMANO A. Pharmacogenetic determinants of immediate and delayed reactions of drug hypersensitivity. Curr Pharm Des. 2008, 14, 2770-2777

 

71.  LIDOVE O, CHOUKROUN G, TSIMARATOS M, JAUSSAUD R : conseil scientifique de l’APMF (Association des Patients de la Maladie de Fabry). What is the health insurance – Sécurité Sociale status for patients with Fabry disease ? Presse Med 2008;37: 1503-5.

 

72. S MOHAMED, L WEY, L PRUNA, JC DEYBACH, P KAMINSKY. Intérêt d’un traitement préventif par hémine dans un cas de porphyrie aiguë intermittente particulièrement sévère. 57ème Congrès de la Société Nationale Française de Médecine Interne. Luxembourg, juin 2008.

 

73. P KAMINSKY, C ACQUAVIVA BOURDAIN, L PRUNA,  J JONAS, C VIANEY-SABAN. Multiple acylcoA dehydrogenase deficiency in a 55 year old woman . Annual Symposium of the Society for the Study of Inborn Errors of Metabolism - Lisboa, Portugal, 2–5 September, 2008. J Inh Dis Metab 2008 31(S1): 37.

 

74. LIDOVE, P KAMINSKY, E HACHULLA, B LORCERIE, C LAVIGNE, I MARIE, F MAILLOT, C SERRATRICE, A MASSEAU, P CHERIN, J CABANE, E NOEL. Observatoire maladie de Fabry-médecine interne : résultats préliminaires (52 observations, 30 femmes–22 hommes). Congrès de la Société Nationale Française de Médecine Interne. Bordeaux, décembre 2008. The adolescent and adult form of cobalamin C disease: clinical and molecular spectrum.

 

75. THAUVIN-ROBINET C, ROZE E, COUVREUR G, HORELLOU MH, SEDEL F, GRABLI D, BRUNETEAU G, TONNETI C, MASUREL-PAULET A, PERENNOU D, MOREAU T, GIROUD M, DE BAULNY HO, GIRAUDIER S, FAIVRE L.J Neurol Neurosurg Psychiatry. 2008 Jun;79(6):725-8. Epub 2008 Feb 1.

 

76.  NTBC treatment in tyrosinaemia type I: long-term outcome in French patients.MASUREL-PAULET A, POGGI-BACH J, ROLLAND MO, BERNARD O, GUFFON N, DOBBELAERE D, SARLES J, DE BAULNY HO, TOUATI G.J Inherit Metab Dis. 2008 Feb;31(1):81-7.

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