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Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease.
Kishnani PS, Corzo D, Nicolino M, Byrne B, Mandel H, Hwu WL, Leslie N, Levine J, Spencer C, McDonald M, Li J, Dumontier J, Halberthal M, Chien YH, Hopkin R, Vijayaraghavan S, Gruskin D, Bartholomew D, van der Ploeg A, Clancy JP, Parini R, Morin G, Beck M, De la Gastine GS, Jokic M, Thurberg B, Richards S, Bali D, Davison M, Worden MA, Chen YT, Wraith JE. Kishnani PS, et al. Among authors: wraith je. Neurology. 2007 Jan 9;68(2):99-109. doi: 10.1212/01.wnl.0000251268.41188.04. Epub 2006 Dec 6. Neurology. 2007. PMID: 17151339 Clinical Trial.
Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease.
Nicolino M, Byrne B, Wraith JE, Leslie N, Mandel H, Freyer DR, Arnold GL, Pivnick EK, Ottinger CJ, Robinson PH, Loo JC, Smitka M, Jardine P, Tatò L, Chabrol B, McCandless S, Kimura S, Mehta L, Bali D, Skrinar A, Morgan C, Rangachari L, Corzo D, Kishnani PS. Nicolino M, et al. Among authors: wraith je. Genet Med. 2009 Mar;11(3):210-9. doi: 10.1097/GIM.0b013e31819d0996. Genet Med. 2009. PMID: 19287243 Free article. Clinical Trial.
Mortality and cause of death in mucopolysaccharidosis type II-a historical review based on data from the Hunter Outcome Survey (HOS).
Jones SA, Almássy Z, Beck M, Burt K, Clarke JT, Giugliani R, Hendriksz C, Kroepfl T, Lavery L, Lin SP, Malm G, Ramaswami U, Tincheva R, Wraith JE; HOS Investigators. Jones SA, et al. Among authors: wraith je. J Inherit Metab Dis. 2009 Aug;32(4):534-43. doi: 10.1007/s10545-009-1119-7. Epub 2009 Jul 14. J Inherit Metab Dis. 2009. PMID: 19597960
Cutaneous presentation of sarcoidosis in an infant.
O'Driscoll JB, Beck MH, Lendon M, Wraith J, Sardharwalla IB. O'Driscoll JB, et al. Clin Exp Dermatol. 1990 Jan;15(1):60-2. doi: 10.1111/j.1365-2230.1990.tb02023.x. Clin Exp Dermatol. 1990. PMID: 2311282
Facial appearance in glycogen storage disease type III.
Cleary MA, Walter JH, Kerr BA, Wraith JE. Cleary MA, et al. Among authors: wraith je. Clin Dysmorphol. 2002 Apr;11(2):117-20. doi: 10.1097/00019605-200204000-00008. Clin Dysmorphol. 2002. PMID: 12002141
206 results