Bali D - Search Results

1

Variable clinical features and genotype-phenotype correlations in 18 patients with late-onset Pompe disease.

Alandy-Dy J, Wencel M, Hall K, Simon J, Chen Y, Valenti E, Yang J, Bali D, Lakatos A, Goyal N, Mozaffar T, Kimonis V. Alandy-Dy J, et al. Among authors: bali d. Ann Transl Med. 2019 Jul;7(13):276. doi: 10.21037/atm.2019.06.48. Ann Transl Med. 2019. PMID: 31392188 Free PMC article.

2

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.

3

Glycogen storage disease type III-hepatocellular carcinoma a long-term complication?

Demo E, Frush D, Gottfried M, Koepke J, Boney A, Bali D, Chen YT, Kishnani PS. Demo E, et al. Among authors: bali d. J Hepatol. 2007 Mar;46(3):492-8. doi: 10.1016/j.jhep.2006.09.022. Epub 2006 Nov 9. J Hepatol. 2007. PMID: 17196294 Free PMC article. Review.

4

Rescue of Pompe disease in mice by AAV-mediated liver delivery of secretable acid α-glucosidase.

Puzzo F, Colella P, Biferi MG, Bali D, Paulk NK, Vidal P, Collaud F, Simon-Sola M, Charles S, Hardet R, Leborgne C, Meliani A, Cohen-Tannoudji M, Astord S, Gjata B, Sellier P, van Wittenberghe L, Vignaud A, Boisgerault F, Barkats M, Laforet P, Kay MA, Koeberl DD, Ronzitti G, Mingozzi F. Puzzo F, et al. Among authors: bali d. Sci Transl Med. 2017 Nov 29;9(418):eaam6375. doi: 10.1126/scitranslmed.aam6375. Sci Transl Med. 2017. PMID: 29187643 Free PMC article.

5

Screening data from 19 patients with late-onset Pompe disease for a phase I clinical trial of AAV8 vector-mediated gene therapy.

Hannah WB, Case LE, Smith EC, Walters C, Bali D, Kishnani PS, Koeberl DD. Hannah WB, et al. Among authors: bali d. JIMD Rep. 2023 Aug 17;64(5):393-400. doi: 10.1002/jmd2.12391. eCollection 2023 Sep. JIMD Rep. 2023. PMID: 37701327 Free PMC article.

6

Improvement with ongoing Enzyme Replacement Therapy in advanced late-onset Pompe disease: a case study.

Case LE, Koeberl DD, Young SP, Bali D, DeArmey SM, Mackey J, Kishnani PS. Case LE, et al. Among authors: bali d. Mol Genet Metab. 2008 Dec;95(4):233-5. doi: 10.1016/j.ymgme.2008.09.001. Epub 2008 Oct 18. Mol Genet Metab. 2008. PMID: 18930676

7

Long-term monitoring of patients with infantile-onset Pompe disease on enzyme replacement therapy using a urinary glucose tetrasaccharide biomarker.

Young SP, Zhang H, Corzo D, Thurberg BL, Bali D, Kishnani PS, Millington DS. Young SP, et al. Among authors: bali d. Genet Med. 2009 Jul;11(7):536-41. doi: 10.1097/GIM.0b013e3181a87867. Genet Med. 2009. PMID: 19521244 Free article. Clinical Trial.

8

Screening for Pompe disease using a rapid dried blood spot method: experience of a clinical diagnostic laboratory.

Goldstein JL, Young SP, Changela M, Dickerson GH, Zhang H, Dai J, Peterson D, Millington DS, Kishnani PS, Bali DS. Goldstein JL, et al. Among authors: bali ds. Muscle Nerve. 2009 Jul;40(1):32-6. doi: 10.1002/mus.21376. Muscle Nerve. 2009. PMID: 19533645

9

Enhanced efficacy of enzyme replacement therapy in Pompe disease through mannose-6-phosphate receptor expression in skeletal muscle.

Koeberl DD, Luo X, Sun B, McVie-Wylie A, Dai J, Li S, Banugaria SG, Chen YT, Bali DS. Koeberl DD, et al. Among authors: bali ds. Mol Genet Metab. 2011 Jun;103(2):107-12. doi: 10.1016/j.ymgme.2011.02.006. Epub 2011 Feb 13. Mol Genet Metab. 2011. PMID: 21397538 Free PMC article.

10

Molecular analysis and protein processing in late-onset Pompe disease patients with low levels of acid α-glucosidase activity.

Bali DS, Tolun AA, Goldstein JL, Dai J, Kishnani PS. Bali DS, et al. Muscle Nerve. 2011 May;43(5):665-70. doi: 10.1002/mus.21933. Muscle Nerve. 2011. PMID: 21484825

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