Bali D - Search Results

1

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.

2

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.

3

Abnormalities in glycogen metabolism in a patient with alpers' syndrome presenting with hypoglycemia.

Simon M, Chang RC, Bali DS, Wong LJ, Peng Y, Abdenur JE. Simon M, et al. JIMD Rep. 2014;14:29-35. doi: 10.1007/8904_2013_280. Epub 2013 Nov 23. JIMD Rep. 2014. PMID: 24272679 Free PMC article.

4

Glycogen-branching enzyme deficiency leads to abnormal cardiac development: novel insights into glycogen storage disease IV.

Lee YC, Chang CJ, Bali D, Chen YT, Yan YT. Lee YC, et al. Among authors: bali d. Hum Mol Genet. 2011 Feb 1;20(3):455-65. doi: 10.1093/hmg/ddq492. Epub 2010 Nov 12. Hum Mol Genet. 2011. PMID: 21075835

5

Diffuse reticuloendothelial system involvement in type IV glycogen storage disease with a novel GBE1 mutation: a case report and review.

Magoulas PL, El-Hattab AW, Roy A, Bali DS, Finegold MJ, Craigen WJ. Magoulas PL, et al. Hum Pathol. 2012 Jun;43(6):943-51. doi: 10.1016/j.humpath.2011.10.001. Epub 2012 Feb 2. Hum Pathol. 2012. PMID: 22305237 Review.

6

Discordant organ laterality in monozygotic twins with primary ciliary dyskinesia.

Noone PG, Bali D, Carson JL, Sannuti A, Gipson CL, Ostrowski LE, Bromberg PA, Boucher RC, Knowles MR. Noone PG, et al. Among authors: bali d. Am J Med Genet. 1999 Jan 15;82(2):155-60. doi: 10.1002/(sici)1096-8628(19990115)82:2<155::aid-ajmg11>3.0.co;2-t. Am J Med Genet. 1999. PMID: 9934981

7

Animal model for maturity-onset diabetes of the young generated by disruption of the mouse glucokinase gene.

Bali D, Svetlanov A, Lee HW, Fusco-DeMane D, Leiser M, Li B, Barzilai N, Surana M, Hou H, Fleischer N, et al. Bali D, et al. J Biol Chem. 1995 Sep 15;270(37):21464-7. doi: 10.1074/jbc.270.37.21464. J Biol Chem. 1995. PMID: 7665557 Free article.

8

Selective loss of a DNase I hypersensitive site upstream of the tyrosine aminotransferase gene in mice homozygous for lethal albino deletions.

Zaret KS, Milos P, Lia M, Bali D, Gluecksohn-Waelsch S. Zaret KS, et al. Among authors: bali d. Proc Natl Acad Sci U S A. 1992 Jul 15;89(14):6540-4. doi: 10.1073/pnas.89.14.6540. Proc Natl Acad Sci U S A. 1992. PMID: 1378630 Free PMC article.

9

Increased alpha2 subunit-associated AMPK activity and PRKAG2 cardiomyopathy.

Ahmad F, Arad M, Musi N, He H, Wolf C, Branco D, Perez-Atayde AR, Stapleton D, Bali D, Xing Y, Tian R, Goodyear LJ, Berul CI, Ingwall JS, Seidman CE, Seidman JG. Ahmad F, et al. Among authors: bali d. Circulation. 2005 Nov 15;112(20):3140-8. doi: 10.1161/CIRCULATIONAHA.105.550806. Epub 2005 Nov 7. Circulation. 2005. PMID: 16275868

10

Novel application of digital microfluidics for the detection of biotinidase deficiency in newborns.

Graham C, Sista RS, Kleinert J, Wu N, Eckhardt A, Bali D, Millington DS, Pamula VK. Graham C, et al. Among authors: bali d. Clin Biochem. 2013 Dec;46(18):1889-91. doi: 10.1016/j.clinbiochem.2013.09.003. Epub 2013 Sep 11. Clin Biochem. 2013. PMID: 24036022 Free PMC article.

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