未登录 Mucopolysaccharidosis type II: Identification of 30 novel mutations among Latin American patients Brusius-Facchin, A. C.; Schwartz, I. V. D.; Zimmer, C.; Ribeiro, M. G.; Acosta, A. X.; Horovitz, D.; Monlleo, I. L.; Fontes, M. I. B.; Fett-Conte, A.; Oliveira Sobrinho, R. P.; Duarte, A. R.; Boy, R.; Mabe, P.; Ascurra, M.; de Michelena, M.; Tylee, K. L.; Besley, G. T. N.; Garreton, M. C. V.; Giugliani, R.; Leistner-Segal, S. 分享 收藏
Relationship of Octanoylcarnitine Concentrations to Age at Sampling in Unaffected Newborns Screened for Medium-Chain Acyl-CoA Dehydrogenase Deficiency Khalid, Javaria M.; Oerton, Juliet; Besley, Guy; Dalton, Neil; Downing, Melanie; Green, Anne; Henderson, Mick; Krywawych, Steve; Wiley, Veronica; Wilcken, Bridget; Dezateux, Carol 分享 收藏
Identification of Novel Mutations in the SLC25A15 Gene in Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) Syndrome: A Clinical, Molecular, and Functional Study Tessa, Alessandra; Fiermonte, Giuseppe; Dionisi-Vici, Carlo; Paradie, Eleonora; Baumgartner, Matthias R.; Chien, Yin-Hsiu; Loguercio, Carmela; de Baulny, Helene Ogier; Nassogne, Marie-Cecile; Schiff, Manuel; Deodato, Federica; Parenti, Giancarlo; Rutledge, S. Lane; Vilaseca, M. Antonia; Melone, Mariarosa A. B.; Scarano, Gioacchino; Aldamiz-Echevarria, Luiz; Besley, Guy; Walter, John; Martinez-Hernandez, Eugenia; Hernandez, Jose M.; Pierri, Ciro L.; Palmieri, Ferdinando; Santorelli, Filippo M. 分享 收藏
Skewed X inactivation is associated with phenotype in a female with adrenal hypoplasia congenita Shaikh, M. G.; Boyes, L.; Kingston, H.; Collins, R.; Besley, G. T. N.; Padmakumar, B.; Ismayl, O.; Hughes, I.; Hall, C. M.; Hellerud, C.; Achermann, J. C.; Clayton, P. E. 分享 收藏
The natural history of Niemann-Pick disease type C Jacklin, Elizabeth; Imrie, Jackie; Dasgupta, Suprana; Besley, Guy; Chris, Harris; Heptinstall, Leslie; Knight, Stephen; Vanier, Marie; Fensom, Anthony; Ward, Chandra; Whitehouse, Cath; Ed, Wraith 分享 收藏
Structural (βα)8 TIM barrel model of 3-hydroxy-3-methylglutaryl-coenzyme A lyase Casals, N; Gómez-Puertas, P; Pié, J; Mir, C; Roca, R; Puisac, B; Aledo, R; Clotet, J; Menao, S; Serra, D; Asins, G; Till, J; Elias-Jones, AC; Cresto, JC; Chamoles, NA; Abdenur, JE; Mayatepek, E; Besley, G; Valencia, A; Hegardt, FG 分享 收藏
Twenty-two novel mutations in the lysosomal α-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II Hermans, MMP; van Leenen, D; Kroos, MA; Beesley, CE; Van der Ploeg, AT; Sakuraba, H; Wevers, R; Kleijer, W; Michelakakis, H; Kirk, ER; Fletcher, J; Bosshard, N; Basel-Vanagaite, L; Besley, G; Reuser, AJJ 分享 收藏
Succinyl-CoA:3-ketoacid CoA transferase (SCOT):: Cloning of the human SCOT gene, tertiary structural modeling of the human SCOT monomer, and characterization of three pathogenic mutations Fukao, T; Mitchell, GA; Song, XQ; Nakamura, H; Kassovska-Bratinova, S; Orii, KE; Wraith, JE; Besley, G; Wanders, RJA; Niezen-Koning, KE; Berry, GT; Palmieri, M; Kondo, N 分享 收藏
Defective PEX gene products correlate with the protein import, biochemical abnormalities, and phenotypic heterogeneity in peroxisome biogenesis disorders Shimozawa, N; Imamura, A; Zhang, ZY; Suzuki, Y; Orii, T; Tsukamoto, T; Osumi, T; Fujiki, Y; Wanders, RJA; Besley, G; Kondo, N 分享 收藏
Genomic structure and identification of 11 novel mutations of the PEX6 (peroxisome assembly factor-2) gene in patients with peroxisome biogenesis disorders Zhang, ZY; Suzuki, Y; Shimozawa, N; Fukuda, S; Imamura, A; Tsukamoto, T; Osumi, T; Fujiki, Y; Orii, T; Wanders, RJA; Barth, PG; Moser, HW; Paton, BC; Besley, GT; Kondo, N 分享 收藏
Long-term in vitro correction of alpha-L-iduronidase deficiency (Hurler syndrome) in human bone marrow Fairbairn, LJ; Lashford, LS; Spooncer, E; McDermott, RH; Lebens, G; Arrand, JE; Arrand, JR; Bellantuono, I; Holt, R; Hatton, CE; Cooper, A; Besley, GTN; Wraith, JE; Anson, DS; Hopwood, JJ; Dexter, TM 分享 收藏
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