Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

368 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Phase I study of liver depot gene therapy in late-onset Pompe disease.
Smith EC, Hopkins S, Case LE, Xu M, Walters C, Dearmey S, Han SO, Spears TG, Chichester JA, Bossen EH, Hornik CP, Cohen JL, Bali D, Kishnani PS, Koeberl DD. Smith EC, et al. Among authors: kishnani ps. Mol Ther. 2023 Jul 5;31(7):1994-2004. doi: 10.1016/j.ymthe.2023.02.014. Epub 2023 Feb 18. Mol Ther. 2023. PMID: 36805083 Clinical Trial.
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
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.
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.
368 results