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Items: 1 to 50 of 119

1.

Clinical and Molecular Disease Spectrum and Outcomes in Patients with Infantile-Onset Pompe Disease.

Gupta N, Kazi ZB, Nampoothiri S, Jagdeesh S, Kabra M, Puri RD, Muranjan M, Kalaivani M, Rehder C, Bali D, Verma IC, Kishnani PS.

J Pediatr. 2019 Oct 9. pii: S0022-3476(19)31121-7. doi: 10.1016/j.jpeds.2019.08.058. [Epub ahead of print]

PMID:
31606152
2.

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.

Ann Transl Med. 2019 Jul;7(13):276. doi: 10.21037/atm.2019.06.48.

3.

Erratum: Assessment of toxicity and biodistribution of recombinant AAV8 vector-mediated immunomodulatory gene therapy in mice with Pompe disease.

Wang G, Young SP, Bali D, Hutt J, Li S, Benson J, Koeberl DD.

Mol Ther Methods Clin Dev. 2019 May 30;13:493. doi: 10.1016/j.omtm.2019.05.001. eCollection 2019 Jun 14.

4.

Liver fibrosis during clinical ascertainment of glycogen storage disease type III: a need for improved and systematic monitoring.

Halaby CA, Young SP, Austin S, Stefanescu E, Bali D, Clinton LK, Smith B, Pendyal S, Upadia J, Schooler GR, Mavis AM, Kishnani PS.

Genet Med. 2019 Jul 2. doi: 10.1038/s41436-019-0561-7. [Epub ahead of print]

PMID:
31263214
5.

Characterization of immune response in Cross-Reactive Immunological Material (CRIM)-positive infantile Pompe disease patients treated with enzyme replacement therapy.

Desai AK, Kazi ZB, Bali DS, Kishnani PS.

Mol Genet Metab Rep. 2019 May 10;20:100475. doi: 10.1016/j.ymgmr.2019.100475. eCollection 2019 Sep.

6.

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.

J Pediatr. 2019 Aug;211:193-200.e2. doi: 10.1016/j.jpeds.2019.04.027. Epub 2019 May 24.

PMID:
31133280
7.

Diagnosis and management of glycogen storage diseases type VI and IX: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).

Kishnani PS, Goldstein J, Austin SL, Arn P, Bachrach B, Bali DS, Chung WK, El-Gharbawy A, Brown LM, Kahler S, Pendyal S, Ross KM, Tsilianidis L, Weinstein DA, Watson MS; ACMG Work Group on Diagnosis and Management of Glycogen Storage Diseases Type VI and IX.

Genet Med. 2019 Apr;21(4):772-789. doi: 10.1038/s41436-018-0364-2. Epub 2019 Jan 19.

PMID:
30659246
8.

Hepatitis E virus in Common voles (Microtus arvalis) from an urban environment, Hungary: Discovery of a Cricetidae-specific genotype of Orthohepevirus C.

Kurucz K, Hederics D, Bali D, Kemenesi G, Horváth G, Jakab F.

Zoonoses Public Health. 2019 Mar;66(2):259-263. doi: 10.1111/zph.12543. Epub 2018 Nov 29.

PMID:
30499180
9.

Phosphorylase Kinase Deficiency.

Herbert M, Goldstein JL, Rehder C, Austin S, Kishnani PS, Bali DS.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2011 May 31 [updated 2018 Nov 1].

10.

Correction of Biochemical Abnormalities and Improved Muscle Function in a Phase I/II Clinical Trial of Clenbuterol in Pompe Disease.

Koeberl DD, Case LE, Smith EC, Walters C, Han SO, Li Y, Chen W, Hornik CP, Huffman KM, Kraus WE, Thurberg BL, Corcoran DL, Bali D, Bursac N, Kishnani PS.

Mol Ther. 2018 Sep 5;26(9):2304-2314. doi: 10.1016/j.ymthe.2018.06.023. Epub 2018 Jul 5.

11.

Parallel Survey of Two Widespread Renal Syndrome-Causing Zoonoses: Leptospira spp. and Hantavirus in Urban Environment, Hungary.

Kurucz K, Madai M, Bali D, Hederics D, Horváth G, Kemenesi G, Jakab F.

Vector Borne Zoonotic Dis. 2018 Apr;18(4):200-205. doi: 10.1089/vbz.2017.2204. Epub 2018 Feb 13.

PMID:
29437551
12.

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.

Sci Transl Med. 2017 Nov 29;9(418). pii: eaam6375. doi: 10.1126/scitranslmed.aam6375.

13.

Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease.

Mori M, Haskell G, Kazi Z, Zhu X, DeArmey SM, Goldstein JL, Bali D, Rehder C, Cirulli ET, Kishnani PS.

Mol Genet Metab. 2017 Dec;122(4):189-197. doi: 10.1016/j.ymgme.2017.10.008. Epub 2017 Oct 17.

14.

PRKAG2 mutations presenting in infancy.

Torok RD, Austin SL, Phornphutkul C, Rotondo KM, Bali D, Tatum GH, Wechsler SB, Buckley AF, Kishnani PS.

J Inherit Metab Dis. 2017 Nov;40(6):823-830. doi: 10.1007/s10545-017-0072-0. Epub 2017 Aug 11.

PMID:
28801758
15.

Wolman Disease: A Mimic of Infant Leukemia.

Gopakumar KG, Thankamony P, Nampoothiri S, Bali D, Raj J, A Vasudevan J, K Nair R.

J Pediatr Hematol Oncol. 2017 Nov;39(8):e489-e492. doi: 10.1097/MPH.0000000000000861.

PMID:
28538091
16.

Misinformation regarding tandem mass spectrometric vs fluorometric assays to screen newborns for LSDs.

Millington DS, Bali DM.

Mol Genet Metab Rep. 2017 May 10;11:72-73. doi: 10.1016/j.ymgmr.2017.04.009. eCollection 2017 Jun. No abstract available.

17.

Clinical and Molecular Variability in Patients with PHKA2 Variants and Liver Phosphorylase b Kinase Deficiency.

Bali DS, Goldstein JL, Fredrickson K, Austin S, Pendyal S, Rehder C, Kishnani PS.

JIMD Rep. 2017;37:63-72. doi: 10.1007/8904_2017_8. Epub 2017 Mar 12.

18.

A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay.

Schoch K, Meng L, Szelinger S, Bearden DR, Stray-Pedersen A, Busk OL, Stong N, Liston E, Cohn RD, Scaglia F, Rosenfeld JA, Tarpinian J, Skraban CM, Deardorff MA, Friedman JN, Akdemir ZC, Walley N, Mikati MA, Kranz PG, Jasien J, McConkie-Rosell A, McDonald M, Wechsler SB, Freemark M, Kansagra S, Freedman S, Bali D, Millan F, Bale S, Nelson SF, Lee H, Dorrani N; UCLA Clinical Genomics Center; Undiagnosed Diseases Network, Goldstein DB, Xiao R, Yang Y, Posey JE, Martinez-Agosto JA, Lupski JR, Wangler MF, Shashi V.

Am J Hum Genet. 2017 Feb 2;100(2):343-351. doi: 10.1016/j.ajhg.2016.12.013. Epub 2017 Jan 26.

19.

Maternal and Child Health Care Services in Albania.

Bali D, Kuli-Lito G, Ceka N, Godo A.

J Pediatr. 2016 Oct;177S:S11-S20. doi: 10.1016/j.jpeds.2016.04.037. Epub 2016 Sep 22.

PMID:
27666259
20.

Glycogen Storage Disease Type I.

Bali DS, Chen YT, Austin S, Goldstein JL.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2006 Apr 19 [updated 2016 Aug 25].

21.

Severe Cardiomyopathy as the Isolated Presenting Feature in an Adult with Late-Onset Pompe Disease: A Case Report.

Mori M, Bailey LA, Estrada J, Rehder CW, Li JS, Rogers JG, Bali DS, Buckley AF, Kishnani PS.

JIMD Rep. 2017;31:79-83. doi: 10.1007/8904_2016_563. Epub 2016 May 4.

22.

Comparison of two techniques of harvesting connective tissue and its effects on healing pattern at palate and recession coverage at recipient site.

Pandit N, Khasa M, Gugnani S, Malik R, Bali D.

Contemp Clin Dent. 2016 Jan-Mar;7(1):3-10. doi: 10.4103/0976-237X.177099.

23.

Constipation as an Atypical Sign of ARC Syndrome - Case Report.

Velmishi V, Dervishi E, Bali D, Shehu A, Cullufi P.

Curr Health Sci J. 2016 Apr-Jun;42(2):203-206. doi: 10.12865/CHSJ.42.02.13. Epub 2016 Jun 28.

24.

Semilunar vestibular technique: A novel procedure for multiple recession coverage (a report of two cases).

Pandit N, Pandit IK, Bali D, Jindal S.

J Indian Soc Periodontol. 2015 Nov-Dec;19(6):694-7. doi: 10.4103/0972-124X.162204.

25.

Clinical Laboratory Experience of Blood CRIM Testing in Infantile Pompe Disease.

Bali DS, Goldstein JL, Rehder C, Kazi ZB, Berrier KL, Dai J, Kishnani PS.

Mol Genet Metab Rep. 2015 Dec 1;5:76-79.

26.

The use of nanocrystalline and two other forms of calcium sulfate in the treatment of infrabony defects: A clinical and radiographic study.

Pandit N, Sharma A, Jain A, Bali D, Malik R, Gugnani S.

J Indian Soc Periodontol. 2015 Sep-Oct;19(5):545-53. doi: 10.4103/0972-124X.156875.

27.

Enhancement of Dissolution Rate and Intestinal Stability of Clopidogrel Hydrogen Sulfate.

Bali DE, Osman MA, El Maghraby GM.

Eur J Drug Metab Pharmacokinet. 2016 Dec;41(6):807-818.

PMID:
26620370
28.

CORRIGENDUM: CRIM-negative infantile Pompe disease: characterization of immune responses in patients treated with ERT monotherapy.

Berrier KL, Kazi ZB, Prater SN, Bali DS, Goldstein J, Stefanescu MC, Rehder CW, Botha EG, Ellaway C, Bhattacharya K, Tylki-Szymanska A, Karabul N, Rosenberg AS, Kishnani PS.

Genet Med. 2015 Jul;17(7):596. doi: 10.1038/gim.2015.57. No abstract available.

PMID:
26133565
29.

Corrigendum to "Assessment of toxicity and biodistribution of recombinant AAV8 vector-mediated immunomodulatory gene therapy in mice with Pompe disease".

Wang G, Young SP, Bali D, Hutt J, Li S, Benson J, Koeberl DD.

Mol Ther Methods Clin Dev. 2015 Feb 18;2:15002. doi: 10.1038/mtm.2015.2. eCollection 2015.

30.

Comparative evaluation of recession coverage with sub-epithelial connective tissue graft using macrosurgical and microsurgical approaches: A randomized split mouth study.

Jindal U, Pandit N, Bali D, Malik R, Gugnani S.

J Indian Soc Periodontol. 2015 Mar-Apr;19(2):203-7. doi: 10.4103/0972-124X.148641.

31.

CRIM-negative infantile Pompe disease: characterization of immune responses in patients treated with ERT monotherapy.

Berrier KL, Kazi ZB, Prater SN, Bali DS, Goldstein J, Stefanescu MC, Rehder CW, Botha EG, Ellaway C, Bhattacharya K, Tylki-Szymanska A, Karabul N, Rosenberg AS, Kishnani PS.

Genet Med. 2015 Nov;17(11):912-8. doi: 10.1038/gim.2015.6. Epub 2015 Mar 5. Erratum in: Genet Med. 2015 Jul;17(7):596. Rosenburg, Amy S [corrected to Rosenberg, Amy S].

32.

Broad Spectrum of c.2015 G>A Mutation in the GAA Gene Manifesting as a Mild Infantile Variant of Pompe Disease in Jordanian Patients.

Fattal-Valevski A, Sagi L, Kuzminsky A, Bali D.

J Neuromuscul Dis. 2015;2(s1):S41. No abstract available.

PMID:
27858635
33.

Immunological Factors in Pompe Disease Management: Clinical Experience and Implications for Newborn Screening.

Kishnani PS, Kazi ZB, Berrier KL, Dearmey SM, Bali DS, Rosenberg AS.

J Neuromuscul Dis. 2015;2(s1):S7. No abstract available.

PMID:
27858605
34.

Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics.

Kishnani PS, Austin SL, Abdenur JE, Arn P, Bali DS, Boney A, Chung WK, Dagli AI, Dale D, Koeberl D, Somers MJ, Wechsler SB, Weinstein DA, Wolfsdorf JI, Watson MS; American College of Medical Genetics and Genomics.

Genet Med. 2014 Nov;16(11):e1.

PMID:
25356975
35.

Development of a fluorometric microtiter plate-based enzyme assay for arylsulfatase B (MPS VI) using dried blood spots.

Ullal AJ, Millington DS, Bali DS.

Mol Genet Metab Rep. 2014 Oct 22;1:465-467. eCollection 2014.

36.

Development of a fluorometric microtiter plate based enzyme assay for MPS IVA (Morquio type A) using dried blood spots.

Ullal AJ, Millington DS, Bali DS.

Mol Genet Metab Rep. 2014 Oct 22;1:461-464. eCollection 2014.

37.

Adjunctive albuterol enhances the response to enzyme replacement therapy in late-onset Pompe disease.

Koeberl DD, Austin S, Case LE, Smith EC, Buckley AF, Young SP, Bali D, Kishnani PS.

FASEB J. 2014 May;28(5):2171-6. doi: 10.1096/fj.13-241893. Epub 2014 Jan 17.

PMID:
24443373
38.

Is Pederson Index a True Predictive Difficulty Index for Impacted Mandibular Third Molar Surgery? A Meta-analysis.

Bali A, Bali D, Sharma A, Verma G.

J Maxillofac Oral Surg. 2013 Sep;12(3):359-64. doi: 10.1007/s12663-012-0435-x. Epub 2012 Sep 22. Review.

39.

Variability of disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the PHKG2 gene.

Bali DS, Goldstein JL, Fredrickson K, Rehder C, Boney A, Austin S, Weinstein DA, Lutz R, Boneh A, Kishnani PS.

Mol Genet Metab. 2014 Mar;111(3):309-313. doi: 10.1016/j.ymgme.2013.12.008. Epub 2013 Dec 19.

40.

Assessment of toxicity and biodistribution of recombinant AAV8 vector-mediated immunomodulatory gene therapy in mice with Pompe disease.

Wang G, Young SP, Bali D, Hutt J, Li S, Benson J, Koeberl DD.

Mol Ther Methods Clin Dev. 2014 Jun 11;1:14018. doi: 10.1038/mtm.2014.18. eCollection 2014. Erratum in: Mol Ther Methods Clin Dev. 2015;2:15002. Mol Ther Methods Clin Dev. 2019 May 30;13:493.

41.

An overview of gene therapy in head and neck cancer.

Bali A, Bali D, Sharma A.

Indian J Hum Genet. 2013 Jul;19(3):282-90. doi: 10.4103/0971-6866.120811. Review.

42.

Blood-based diagnostic testing for Pompe disease: consistency between GAA enzyme activity in dried blood spots and GAA gene sequencing results.

Goldstein JL, Dickerson G, Kishnani PS, Rehder C, Bali DS.

Muscle Nerve. 2014 May;49(5):775-6. doi: 10.1002/mus.24149. No abstract available.

PMID:
24338800
43.

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.

JIMD Rep. 2014;14:29-35. doi: 10.1007/8904_2013_280. Epub 2013 Nov 23.

44.

COX-2 gene polymorphisms and risk of chronic periodontitis: a case-control study and meta-analysis.

Prakash G, Umar M, Ajay S, Bali D, Upadhyay R, Gupta KK, Dixit J, Mittal B.

Oral Dis. 2015 Jan;21(1):38-45. doi: 10.1111/odi.12203. Epub 2013 Nov 25.

PMID:
24267395
45.

[Aesthetic reconstructive surgery of the lip].

Rousseau P, Arnaud D, Huguier V, Chemli H, Dhouib M, Bali D, Darsonval V.

Ann Chir Plast Esthet. 2013 Oct;58(5):601-27. doi: 10.1016/j.anplas.2013.06.003. Epub 2013 Oct 14. French.

PMID:
24135286
46.

Identification of differentially expressed microRNAs in human hepatocellular adenoma associated with type I glycogen storage disease: a potential utility as biomarkers.

Chiu LY, Kishnani PS, Chuang TP, Tang CY, Liu CY, Bali D, Koeberl D, Austin S, Boyette K, Weinstein DA, Murphy E, Yao A, Chen YT, Li LH.

J Gastroenterol. 2014 Aug;49(8):1274-84. doi: 10.1007/s00535-013-0890-2. Epub 2013 Oct 16.

PMID:
24129885
47.

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.

Clin Biochem. 2013 Dec;46(18):1889-91. doi: 10.1016/j.clinbiochem.2013.09.003. Epub 2013 Sep 11.

48.

Comparative evaluation of locally delivered minocycline and metronidazole in the treatment of periodontitis.

Pandit N, Dahiya R, Gupta R, Bali D, Kathuria A.

Contemp Clin Dent. 2013 Jan;4(1):48-53. doi: 10.4103/0976-237X.111615.

49.

Algorithm for the early diagnosis and treatment of patients with cross reactive immunologic material-negative classic infantile pompe disease: a step towards improving the efficacy of ERT.

Banugaria SG, Prater SN, Patel TT, Dearmey SM, Milleson C, Sheets KB, Bali DS, Rehder CW, Raiman JA, Wang RA, Labarthe F, Charrow J, Harmatz P, Chakraborty P, Rosenberg AS, Kishnani PS.

PLoS One. 2013 Jun 25;8(6):e67052. doi: 10.1371/journal.pone.0067052. Print 2013.

50.

Multiplex newborn screening for Pompe, Fabry, Hunter, Gaucher, and Hurler diseases using a digital microfluidic platform.

Sista RS, Wang T, Wu N, Graham C, Eckhardt A, Winger T, Srinivasan V, Bali D, Millington DS, Pamula VK.

Clin Chim Acta. 2013 Sep 23;424:12-8. doi: 10.1016/j.cca.2013.05.001. Epub 2013 May 7.

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