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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. Among authors: mackey j. 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.
Fractures in children with Pompe disease: a potential long-term complication.
Case LE, Hanna R, Frush DP, Krishnamurthy V, DeArmey S, Mackey J, Boney A, Morgan C, Corzo D, Bouchard S, Weber TJ, Chen YT, Kishnani PS. Case LE, et al. Among authors: mackey j. Pediatr Radiol. 2007 May;37(5):437-45. doi: 10.1007/s00247-007-0428-y. Epub 2007 Mar 7. Pediatr Radiol. 2007. PMID: 17342521
Predicting cross-reactive immunological material (CRIM) status in Pompe disease using GAA mutations: lessons learned from 10 years of clinical laboratory testing experience.
Bali DS, Goldstein JL, Banugaria S, Dai J, Mackey J, Rehder C, Kishnani PS. Bali DS, et al. Among authors: mackey j. Am J Med Genet C Semin Med Genet. 2012 Feb 15;160C(1):40-9. doi: 10.1002/ajmg.c.31319. Epub 2012 Jan 17. Am J Med Genet C Semin Med Genet. 2012. PMID: 22252923 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. Among authors: mackey j. Genet Med. 2001 Mar-Apr;3(2):132-8. Genet Med. 2001. PMID: 11286229 Free article. Clinical Trial.
Persistence of high sustained antibodies to enzyme replacement therapy despite extensive immunomodulatory therapy in an infant with Pompe disease: need for agents to target antibody-secreting plasma cells.
Banugaria SG, Patel TT, Mackey J, Das S, Amalfitano A, Rosenberg AS, Charrow J, Chen YT, Kishnani PS. Banugaria SG, et al. Among authors: mackey j. Mol Genet Metab. 2012 Apr;105(4):677-80. doi: 10.1016/j.ymgme.2012.01.019. Epub 2012 Jan 28. Mol Genet Metab. 2012. PMID: 22365055 Free PMC article.
630 results