Bali D - Search Results

1

The use of dried blood spot samples in the diagnosis of lysosomal storage disorders--current status and perspectives.

Reuser AJ, Verheijen FW, Bali D, van Diggelen OP, Germain DP, Hwu WL, Lukacs Z, Mühl A, Olivova P, Piraud M, Wuyts B, Zhang K, Keutzer J. Reuser AJ, et al. Among authors: bali d. Mol Genet Metab. 2011 Sep-Oct;104(1-2):144-8. doi: 10.1016/j.ymgme.2011.07.014. Epub 2011 Jul 23. Mol Genet Metab. 2011. PMID: 21831684 Review.

2

In Utero Enzyme-Replacement Therapy for Infantile-Onset Pompe's Disease.

Cohen JL, Chakraborty P, Fung-Kee-Fung K, Schwab ME, Bali D, Young SP, Gelb MH, Khaledi H, DiBattista A, Smallshaw S, Moretti F, Wong D, Lacroix C, El Demellawy D, Strickland KC, Lougheed J, Moon-Grady A, Lianoglou BR, Harmatz P, Kishnani PS, MacKenzie TC. Cohen JL, et al. Among authors: bali d. N Engl J Med. 2022 Dec 8;387(23):2150-2158. doi: 10.1056/NEJMoa2200587. Epub 2022 Nov 9. N Engl J Med. 2022. PMID: 36351280 Free PMC article.

3

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: bali d. Genet Med. 2006 May;8(5):302-6. doi: 10.1097/01.gim.0000217781.66786.9b. Genet Med. 2006. PMID: 16702880 Free article.

4

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: bali d. 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.

5

Rapid diagnosis of late-onset Pompe disease by fluorometric assay of alpha-glucosidase activities in dried blood spots.

Kallwass H, Carr C, Gerrein J, Titlow M, Pomponio R, Bali D, Dai J, Kishnani P, Skrinar A, Corzo D, Keutzer J. Kallwass H, et al. Among authors: bali d. Mol Genet Metab. 2007 Apr;90(4):449-52. doi: 10.1016/j.ymgme.2006.12.006. Epub 2007 Jan 31. Mol Genet Metab. 2007. PMID: 17270480

6

Methods for a prompt and reliable laboratory diagnosis of Pompe disease: report from an international consensus meeting.

Pompe Disease Diagnostic Working Group; Winchester B, Bali D, Bodamer OA, Caillaud C, Christensen E, Cooper A, Cupler E, Deschauer M, Fumić K, Jackson M, Kishnani P, Lacerda L, Ledvinová J, Lugowska A, Lukacs Z, Maire I, Mandel H, Mengel E, Müller-Felber W, Piraud M, Reuser A, Rupar T, Sinigerska I, Szlago M, Verheijen F, van Diggelen OP, Wuyts B, Zakharova E, Keutzer J. Pompe Disease Diagnostic Working Group, et al. Among authors: bali d. Mol Genet Metab. 2008 Mar;93(3):275-81. doi: 10.1016/j.ymgme.2007.09.006. Epub 2007 Dec 19. Mol Genet Metab. 2008. PMID: 18078773

7

Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants.

Kishnani PS, Goldenberg PC, DeArmey SL, Heller J, Benjamin D, Young S, Bali D, Smith SA, Li JS, Mandel H, Koeberl D, Rosenberg A, Chen YT. Kishnani PS, et al. Among authors: bali d. Mol Genet Metab. 2010 Jan;99(1):26-33. doi: 10.1016/j.ymgme.2009.08.003. Mol Genet Metab. 2010. PMID: 19775921 Free PMC article. Clinical Trial.

8

Association of the congenital neuromuscular form of glycogen storage disease type IV with a large deletion and recurrent frameshift mutation.

Li SC, Hwu WL, Lin JL, Bali DS, Yang C, Chu SM, Chien YH, Chou HC, Chen CY, Hsieh WS, Tsao PN, Chen YT, Lee NC. Li SC, et al. J Child Neurol. 2012 Feb;27(2):204-8. doi: 10.1177/0883073811415107. Epub 2011 Sep 13. J Child Neurol. 2012. PMID: 21917543

9

β2 Agonists enhance the efficacy of simultaneous enzyme replacement therapy in murine Pompe disease.

Koeberl DD, Li S, Dai J, Thurberg BL, Bali D, Kishnani PS. Koeberl DD, et al. Among authors: bali d. Mol Genet Metab. 2012 Feb;105(2):221-7. doi: 10.1016/j.ymgme.2011.11.005. Epub 2011 Nov 11. Mol Genet Metab. 2012. PMID: 22154081 Free PMC article.

10

A novel fluorometric enzyme analysis method for Hunter syndrome using dried blood spots.

Tolun AA, Graham C, Shi Q, Sista RS, Wang T, Eckhardt AE, Pamula VK, Millington DS, Bali DS. Tolun AA, et al. Mol Genet Metab. 2012 Mar;105(3):519-21. doi: 10.1016/j.ymgme.2011.12.011. Epub 2011 Dec 21. Mol Genet Metab. 2012. PMID: 22227323

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