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Results: 1-12 |
Results: 12
Enzyme replacement therapy in mucopolysaccharidosis type I: Progress and emerging difficulties
Authors: Wraith, JE
Citation: Je. Wraith, Enzyme replacement therapy in mucopolysaccharidosis type I: Progress and emerging difficulties, J INH MET D, 24(2), 2001, pp. 245-250
Advances in the treatment of lysosomal storage disease
Authors: Wraith, JE
Citation: Je. Wraith, Advances in the treatment of lysosomal storage disease, DEVELOP MED, 43(9), 2001, pp. 639-646
Isolated splenomegaly as the presenting feature of Niemann-Pick disease type C
Authors: Imrie, J Wraith, JE
Citation: J. Imrie et Je. Wraith, Isolated splenomegaly as the presenting feature of Niemann-Pick disease type C, ARCH DIS CH, 84(5), 2001, pp. 427-429
Detection of inborn errors of metabolism in the newborn
Authors: Chakrapani, A Cleary, MA Wraith, JE
Citation: A. Chakrapani et al., Detection of inborn errors of metabolism in the newborn, ARCH DIS CH, 84(3), 2001, pp. F205-F210
Ornithine carbamoyltransferase deficiency
Authors: Wraith, JE
Citation: Je. Wraith, Ornithine carbamoyltransferase deficiency, ARCH DIS CH, 84(1), 2001, pp. 84-88
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
Authors: 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
Citation: T. Fukao et al., 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, GENOMICS, 68(2), 2000, pp. 144-151
Donor bone marrow from a sibling with inborn error of metabolism for treatment of acute leukaemia - clinical and biochemical consequences in the non-affected recipient
Authors: Meyer, S Thornley, M Wynn, RF Brennan, BM Carr, T Wraith, JE Will, AM
Citation: S. Meyer et al., Donor bone marrow from a sibling with inborn error of metabolism for treatment of acute leukaemia - clinical and biochemical consequences in the non-affected recipient, BONE MAR TR, 25(8), 2000, pp. 909-911
Trifunctional protein deficiency: Three families with significant maternalhepatic dysfunction in pregnancy not associated with E474Q mutation
Authors: Chakrapani, A Olpin, S Cleary, M Walter, JH Wraith, JE Besley, GTN
Citation: A. Chakrapani et al., Trifunctional protein deficiency: Three families with significant maternalhepatic dysfunction in pregnancy not associated with E474Q mutation, J INH MET D, 23(8), 2000, pp. 826-834
Pediatric neurology on the threshold of a new millenium
Authors: Voit, T Abe, T Antunes, NL Aso, K Beck, M Becker, LE Berthet, F Bourgeois, B Braddick, O Cioni, G Cowan, F DiFazio, MP DiMauro, S Dodge, N Enders, G Forsting, N Frahm, J Futagi, Y Gabreels-Festen, A Gartner, J Gillessen-Kaesbach, G Golden, J Greisen, G Guichenai, P Hagberg, B Heinen, F Hohlfeld, R Holmes, GL Inoue, Y Iwamoto, H Jaeken, J Kaufmann, W Kimura, H Kohyama, J Korinthenberg, R Kramer, H Kreth, W Krivit, W Logan, W Lorenz, B Lou, H Martin, JJ Matshushima, Y Munnich, A Naidu, S Neubauer, W Oguni, H Oka, E Osawa, M Panayiotopoulos, CP Partridge, T Raemaekers, V Rapin, I Reis, A Rivkin, M Roll, C Rosenbaum, T Ross, E Rotteveel, J Schroder, JM Seitz, R Soul, J Steinlein, O Stephani, U Tanaka, J Taylor, G Tome, F Topcu, N Tuxhorn, I Urlesberger, B Wahn, V Wenk, G Wilichowski, E Wraith, JE Wynshaw-Boris, A
Citation: T. Voit et al., Pediatric neurology on the threshold of a new millenium, NEUROPEDIAT, 30(6), 1999, pp. 277-277
Bone marrow transplantation in mucopolysaccharidosis type IIIA: A comparison of an early treated patient with his untreated sibling
Authors: Sivakumur, P Wraith, JE
Citation: P. Sivakumur et Je. Wraith, Bone marrow transplantation in mucopolysaccharidosis type IIIA: A comparison of an early treated patient with his untreated sibling, J INH MET D, 22(7), 1999, pp. 849-850
Long-term follow-up following bone marrow transplantation for Hunter disease
Authors: Vellodi, A Young, E Cooper, A Lidchi, V Winchester, B Wraith, JE
Citation: A. Vellodi et al., Long-term follow-up following bone marrow transplantation for Hunter disease, J INH MET D, 22(5), 1999, pp. 638-648
Generalised uridine diphosphate galactose-4-epimerase deficiency
Authors: Walter, JH Roberts, REP Besley, GTN Wraith, JE Cleary, MA Holton, JB MacFaul, R
Citation: Jh. Walter et al., Generalised uridine diphosphate galactose-4-epimerase deficiency, ARCH DIS CH, 80(4), 1999, pp. 374-376
Risultati: 1-12 |