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2010

101. Orozco-Barrios CE, Battaglia-Hsu SF, Arango-Rodriguez ML, Ayala-Davila J, Chery C, Alberto JM, et al. Vitamin B12-impaired metabolism produces apoptosis and Parkinson phenotype in rats expressing the transcobalamin-oleosin chimera in substantia nigra. PLoS One. 2009;4(12):e8268.

 

102. Cherin P, Rose C, de Roux-Serratrice C, Tardy D, Dobbelaere D, Grosbois B, et al. The neurological manifestations of Gaucher disease type 1: the French Observatoire on Gaucher disease (FROG). J Inherit Metab Dis. 2010 Aug;33(4):331-8.

 

103. Mills PB, Footitt EJ, Mills KA, Tuschl K, Aylett S, Varadkar S, et al. Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency). Brain. 2010 Jul;133(Pt 7):2148-59.

 

104. Giraud C, Dussau J, Azouguene E, Feillet F, Puech JP, Caillaud C. Rapid identification of HEXA mutations in Tay-Sachs patients. Biochem Biophys Res Commun. 2010 Feb 19;392(4):599-602.

 

105. Cherin P, Adoue D, Hachulla E, Jaussaud R, Kaminsky P, Lavigne C, et al. [Result of the survey on orphan disorders by the internal medicine--lysosomal diseases group]. Rev Med Interne. 2010 Jul;31(7):515-6.

106. Moizard MP, Ronce N, Blesson S, Bieth E, Burglen L, Mignot C, et al. Twenty-five novel mutations including duplications in the ATP7A gene. Clin Genet. 2010 May 7.

 

107. Dupre T, Vuillaumier-Barrot S, Chantret I, Yaye HS, Le Bizec C, Afenjar A, et al. Guanosine diphosphate-mannose:GlcNAc2-PP-dolichol mannosyltransferase deficiency (congenital disorders of glycosylation type Ik): five new patients and seven novel mutations. J Med Genet. 2010 Nov;47(11):729-35.

 

108. Feillet F, Agostoni C. Nutritional issues in treating phenylketonuria. J Inherit Metab Dis. 2010 Dec;33(6):659-64.

 

109. Forges T, Chery C, Audonnet S, Feillet F, Gueant JL. Life-threatening methylenetetrahydrofolate reductase (MTHFR) deficiency with extremely early onset: characterization of two novel mutations in compound heterozygous patients. Mol Genet Metab. 2010 Jun;100(2):143-8.

 

110.Feillet F, van Spronsen FJ, MacDonald A, Trefz FK, Demirkol M, Giovannini M, et al. Challenges and pitfalls in the management of phenylketonuria. Pediatrics. 2010 Aug;126(2):333-41.

 

111. Feillet F, MacDonald A, Hartung Perron D, Burton B. Outcomes beyond phenylalanine: an international perspective. Mol Genet Metab. 2010;99 Suppl 1:S79-85.

 

112. Feillet F, Bonnemains C. [Metabolic acidosis from... metabolic origin]. Arch Pediatr. 2010 Jun;17(6):676-7.

 

113. Brajon D, Carassou P, Pruna L, Feillet F, Kaminsky P. [Ornithine transcarbamylase deficiency in adult]. Rev Med Interne. 2010 Oct;31(10):709-11.

 

114. Blau N, Belanger-Quintana A, Demirkol M, Feillet F, Giovannini M, MacDonald A, et al. Management of phenylketonuria in Europe: survey results from 19 countries. Mol Genet Metab. 2010 Feb;99(2):109-15.

 

115. Michot C, Hubert L, Brivet M, De Meirleir L, Valayannopoulos V, Muller-Felber W, et al. LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood. Hum Mutat. 2010 Jul;31(7):E1564-73.

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