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408 results

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Page 1
Algorithm for the early diagnosis and treatment of patients with cross reactive immunologic material-negative classic infantile pompe disease: a step towards improving the efficacy of ERT.
Banugaria SG, Prater SN, Patel TT, Dearmey SM, Milleson C, Sheets KB, Bali DS, Rehder CW, Raiman JA, Wang RA, Labarthe F, Charrow J, Harmatz P, Chakraborty P, Rosenberg AS, Kishnani PS. Banugaria SG, et al. Among authors: kishnani ps. PLoS One. 2013 Jun 25;8(6):e67052. doi: 10.1371/journal.pone.0067052. Print 2013. PLoS One. 2013. PMID: 23825616 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.
Rare disorders of metabolism with elevated butyryl- and isobutyryl-carnitine detected by tandem mass spectrometry newborn screening.
Koeberl DD, Young SP, Gregersen NS, Vockley J, Smith WE, Benjamin DK Jr, An Y, Weavil SD, Chaing SH, Bali D, McDonald MT, Kishnani PS, Chen YT, Millington DS. Koeberl DD, et al. Among authors: kishnani ps. Pediatr Res. 2003 Aug;54(2):219-23. doi: 10.1203/01.PDR.0000074972.36356.89. Epub 2003 May 7. Pediatr Res. 2003. PMID: 12736383
Pompe disease in infants and children.
Kishnani PS, Howell RR. Kishnani PS, et al. J Pediatr. 2004 May;144(5 Suppl):S35-43. doi: 10.1016/j.jpeds.2004.01.053. J Pediatr. 2004. PMID: 15126982 Review. No abstract available.
Hepatocellular carcinoma in glycogen storage disease type Ia: a case series.
Franco LM, Krishnamurthy V, Bali D, Weinstein DA, Arn P, Clary B, Boney A, Sullivan J, Frush DP, Chen YT, Kishnani PS. Franco LM, et al. Among authors: kishnani ps. J Inherit Metab Dis. 2005;28(2):153-62. doi: 10.1007/s10545-005-7500-2. J Inherit Metab Dis. 2005. PMID: 15877204
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.
408 results