Bali D - Search Results

1

The North Carolina Experience with Mucopolysaccharidosis Type I Newborn Screening.

Taylor JL, Clinard K, Powell CM, Rehder C, Young SP, Bali D, Beckloff SE, Gehtland LM, Kemper AR, Lee S, Millington D, Patel HS, Shone SM, Woodell C, Zimmerman SJ, Bailey DB Jr, Muenzer J. Taylor JL, et al. Among authors: bali d. J Pediatr. 2019 Aug;211:193-200.e2. doi: 10.1016/j.jpeds.2019.04.027. Epub 2019 May 24. J Pediatr. 2019. PMID: 31133280

2

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: bali d. 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

3

A comparison of in vitro acylcarnitine profiling methods for the diagnosis of classical and variant short chain acyl-CoA dehydrogenase deficiency.

Young SP, Matern D, Gregersen N, Stevens RD, Bali D, Liu HM, Koeberl DD, Millington DS. Young SP, et al. Among authors: bali d. Clin Chim Acta. 2003 Nov;337(1-2):103-13. doi: 10.1016/j.cccn.2003.07.006. Clin Chim Acta. 2003. PMID: 14568186

4

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.

5

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

6

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.

7

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

8

Digital microfluidics: a future technology in the newborn screening laboratory?

Millington DS, Sista R, Eckhardt A, Rouse J, Bali D, Goldberg R, Cotten M, Buckley R, Pamula V. Millington DS, et al. Among authors: bali d. Semin Perinatol. 2010 Apr;34(2):163-9. doi: 10.1053/j.semperi.2009.12.008. Semin Perinatol. 2010. PMID: 20207266 Free PMC article.

9

Molecular analysis of the AGL gene: identification of 25 novel mutations and evidence of genetic heterogeneity in patients with Glycogen Storage Disease Type III.

Goldstein JL, Austin SL, Boyette K, Kanaly A, Veerapandiyan A, Rehder C, Kishnani PS, Bali DS. Goldstein JL, et al. Genet Med. 2010 Jul;12(7):424-30. doi: 10.1097/GIM.0b013e3181d94eaa. Genet Med. 2010. PMID: 20648714 Free article.

10

Digital microfluidic platform for multiplexing enzyme assays: implications for lysosomal storage disease screening in newborns.

Sista RS, Eckhardt AE, Wang T, Graham C, Rouse JL, Norton SM, Srinivasan V, Pollack MG, Tolun AA, Bali D, Millington DS, Pamula VK. Sista RS, et al. Among authors: bali d. Clin Chem. 2011 Oct;57(10):1444-51. doi: 10.1373/clinchem.2011.163139. Epub 2011 Aug 22. Clin Chem. 2011. PMID: 21859904 Free PMC article.

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