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An immune tolerance approach using transient low-dose methotrexate in the ERT-naïve setting of patients treated with a therapeutic protein: experience in infantile-onset Pompe disease.
Kazi ZB, Desai AK, Troxler RB, Kronn D, Packman S, Sabbadini M, Rizzo WB, Scherer K, Abdul-Rahman O, Tanpaiboon P, Nampoothiri S, Gupta N, Feigenbaum A, Niyazov DM, Sherry L, Segel R, McVie-Wylie A, Sung C, Joseph AM, Richards S, Kishnani PS. Kazi ZB, et al. Among authors: kishnani ps. Genet Med. 2019 Apr;21(4):887-895. doi: 10.1038/s41436-018-0270-7. Epub 2018 Sep 14. Genet Med. 2019. PMID: 30214072 Free PMC article.
Recombinant human acid alpha-glucosidase enzyme therapy for infantile glycogen storage disease type II: results of a phase I/II clinical trial.
Amalfitano A, Bengur AR, Morse RP, Majure JM, Case LE, Veerling DL, Mackey J, Kishnani P, Smith W, McVie-Wylie A, Sullivan JA, Hoganson GE, Phillips JA 3rd, Schaefer GB, Charrow J, Ware RE, Bossen EH, Chen YT. Amalfitano A, et al. Genet Med. 2001 Mar-Apr;3(2):132-8. Genet Med. 2001. PMID: 11286229 Free article. Clinical Trial.
Pompe disease diagnosis and management guideline.
Kishnani PS, Steiner RD, Bali D, Berger K, Byrne BJ, Case LE, Crowley JF, Downs S, Howell RR, Kravitz RM, Mackey J, Marsden D, Martins AM, Millington DS, Nicolino M, O'Grady G, Patterson MC, Rapoport DM, Slonim A, Spencer CT, Tifft CJ, Watson MS. Kishnani PS, et al. Genet Med. 2006 May;8(5):267-88. doi: 10.1097/01.gim.0000218152.87434.f3. Genet Med. 2006. PMID: 16702877 Free PMC article. No abstract available.
Electrocardiographic response to enzyme replacement therapy for Pompe disease.
Ansong AK, Li JS, Nozik-Grayck E, Ing R, Kravitz RM, Idriss SF, Kanter RJ, Rice H, Chen YT, Kishnani PS. Ansong AK, et al. Among authors: kishnani ps. Genet Med. 2006 May;8(5):297-301. doi: 10.1097/01.gim.0000195896.04069.5f. Genet Med. 2006. PMID: 16702879 Free article. Clinical Trial.
Comparison of maltose and acarbose as inhibitors of maltase-glucoamylase activity in assaying acid alpha-glucosidase activity in dried blood spots for the diagnosis of infantile Pompe disease.
Zhang H, Kallwass H, Young SP, Carr C, Dai J, Kishnani PS, Millington DS, Keutzer J, Chen YT, Bali D. Zhang H, et al. Among authors: kishnani ps. Genet Med. 2006 May;8(5):302-6. doi: 10.1097/01.gim.0000217781.66786.9b. Genet Med. 2006. PMID: 16702880 Free article.
397 results