Deeksha Bali

Deeksha Bali

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Deeksha Bali

Deeksha Bali

Publications by authors named "Deeksha Bali"

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

Mol Genet Metab 2017 12 17;122(4):189-197. Epub 2017 Oct 17.

Department of Pediatrics, Duke University Medical Center, Durham, NC, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2017.10.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5907499PMC
December 2017

Wolman Disease: A Mimic of Infant Leukemia.

J Pediatr Hematol Oncol 2017 11;39(8):e489-e492

Departments of *Pediatric Oncology §Imageology ∥Pathology, Regional Cancer Centre, Trivandrum †Department of Pediatric Genetics, Amrita Institute of Medical Sciences, Kochi, Kerala, India ‡Department of Pediatrics Medical Genetics, Duke Health, Durham, NC.

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http://dx.doi.org/10.1097/MPH.0000000000000861DOI Listing
November 2017

PRKAG2 mutations presenting in infancy.

J Inherit Metab Dis 2017 11 11;40(6):823-830. Epub 2017 Aug 11.

Medical Genetics, Department of Pediatrics, Duke University Medical Center, DUMC 103856, 595 Lasalle Street, GSRB 1, 4th Floor, Room 4010, Durham, NC, 27710, USA.

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http://dx.doi.org/10.1007/s10545-017-0072-0DOI Listing
November 2017

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

Mol Genet Metab Rep 2017 Jun 10;11:72-73. Epub 2017 May 10.

Biochemical Genetics Laboratory, Duke University Health System, Durham, United States.

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http://dx.doi.org/10.1016/j.ymgmr.2017.04.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5429225PMC
June 2017

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

JIMD Rep 2017 4;31:79-83. Epub 2016 May 4.

Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center (DUMC), Box 103856, Durham, NC, 27710, USA.

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http://dx.doi.org/10.1007/8904_2016_563DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5388642PMC
May 2016

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

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

Division of Medical Genetics, Department of Pediatrics, Box 103856, Duke University Health System, Durham, NC 27710, USA.

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http://dx.doi.org/10.1016/j.ymgmr.2015.10.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4674832PMC
December 2015

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

Mol Ther Methods Clin Dev 2014 11;1:14018. Epub 2014 Jun 11.

Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center , Durham, North Carolina, USA.

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http://dx.doi.org/10.1038/mtm.2014.18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4362383PMC
May 2015

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

J Neuromuscul Dis 2015;2(s1):S7

Division of Therapeutic Proteins, Office of Biotechnology Products, Center for Drug Evaluation and Research, United States Food and Drug Administration.

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January 2015

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

JIMD Rep 2014 23;14:29-35. Epub 2013 Nov 23.

Division of Metabolic Disorders, CHOC Children's Hospital, 1201 West La Vita, Orange, CA, 92868, USA.

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http://dx.doi.org/10.1007/8904_2013_280DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4213341PMC
October 2014

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

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

Duke Biochemical Genetics Laboratory, Department of Pediatrics, Duke Medicine, Durham, NC, USA.

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http://dx.doi.org/10.1016/j.ymgmr.2014.10.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5121358PMC
October 2014

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

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

Duke Biochemical Genetics Laboratory, Department of Pediatrics, Duke Medicine, Durham, NC, USA.

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http://dx.doi.org/10.1016/j.ymgmr.2014.10.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5121359PMC
October 2014

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

Muscle Nerve 2014 May;49(5):775-6

Department of Pediatrics, Duke University Health System, Durham, North Carolina.

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http://dx.doi.org/10.1002/mus.24149DOI Listing
May 2014

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

FASEB J 2014 May 17;28(5):2171-6. Epub 2014 Jan 17.

1Duke University Medical Center, Box 103856, Durham, NC 27710, USA.

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http://dx.doi.org/10.1096/fj.13-241893DOI Listing
May 2014

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

Clin Biochem 2013 Dec 11;46(18):1889-91. Epub 2013 Sep 11.

Advanced Liquid Logic, Inc. (an Illumina Company), PO Box 14025, Research Triangle Park, NC 27709, USA.

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http://dx.doi.org/10.1016/j.clinbiochem.2013.09.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3926755PMC
December 2013

Alglucosidase alfa enzyme replacement therapy as a therapeutic approach for glycogen storage disease type III.

Mol Genet Metab 2013 Feb 27;108(2):145-7. Epub 2012 Dec 27.

Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA.

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http://dx.doi.org/10.1016/j.ymgme.2012.12.002DOI Listing
February 2013

Adjunctive β2-agonists reverse neuromuscular involvement in murine Pompe disease.

FASEB J 2013 Jan 19;27(1):34-44. Epub 2012 Sep 19.

Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina 27710, USA.

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http://dx.doi.org/10.1096/fj.12-207472DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3528321PMC
January 2013

Glycogen storage disease type IX: novel PHKA2 missense mutation and cirrhosis.

J Pediatr Gastroenterol Nutr 2012 Jul;55(1):90-2

Section of Gastroenterology, Department of Pediatrics, Texas Tech University Health Sciences Center, Amarillo, TX 79106, USA.

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http://content.wkhealth.com/linkback/openurl?sid=WKPTLP:land
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http://dx.doi.org/10.1097/MPG.0b013e31823276eaDOI Listing
July 2012

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

Hum Pathol 2012 Jun 2;43(6):943-51. Epub 2012 Feb 2.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

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http://dx.doi.org/10.1016/j.humpath.2011.10.001DOI Listing
June 2012

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

Mol Genet Metab 2012 Mar 21;105(3):519-21. Epub 2011 Dec 21.

Division of Medical Genetics, Department of Pediatrics, Duke Medicine, Durham, NC 27713, USA.

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http://dx.doi.org/10.1016/j.ymgme.2011.12.011DOI Listing
March 2012

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

Mol Genet Metab 2012 Feb 11;105(2):221-7. Epub 2011 Nov 11.

Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA.

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http://dx.doi.org/10.1016/j.ymgme.2011.11.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3264842PMC
February 2012

Common mutation in the PHKA2 gene with variable phenotype in patients with liver phosphorylase b kinase deficiency.

Mol Genet Metab 2011 Dec 26;104(4):691-4. Epub 2011 Aug 26.

Department of Pediatrics, Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Center, The Netherlands.

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http://dx.doi.org/10.1016/j.ymgme.2011.08.021DOI Listing
December 2011

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

Mol Genet Metab 2011 Jun 13;103(2):107-12. Epub 2011 Feb 13.

Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA.

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http://dx.doi.org/10.1016/j.ymgme.2011.02.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3101281PMC
June 2011

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

Muscle Nerve 2011 May;43(5):665-70

Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, 801 Capitola Drive, Suite 6, Durham, North Carolina 27713, USA.

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http://doi.wiley.com/10.1002/mus.21933
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http://dx.doi.org/10.1002/mus.21933DOI Listing
May 2011

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

Hum Mol Genet 2011 Feb 12;20(3):455-65. Epub 2010 Nov 12.

Institute of Biomedical Sciences, Academia Sinica, Taipei 11529, Taiwan.

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https://academic.oup.com/hmg/article-lookup/doi/10.1093/hmg/
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http://dx.doi.org/10.1093/hmg/ddq492DOI Listing
February 2011

The electrodiagnostic characteristics of Glycogen Storage Disease Type III.

Genet Med 2010 Jul;12(7):440-5

Division of Neurology, Department of Medicine, Duke University Medical Center, Durham, North Carolina 27710, USA.

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http://www.nature.com/doifinder/10.1097/GIM.0b013e3181cd735b
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http://dx.doi.org/10.1097/GIM.0b013e3181cd735bDOI Listing
July 2010

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

Mol Genet Metab 2010 Jan;99(1):26-33

Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Box 103856 DUMC, 4th Floor GSRBI, 595 LaSalle Street, Durham, NC 27710, USA.

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http://dx.doi.org/10.1016/j.ymgme.2009.08.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3721340PMC
January 2010

Chromosomal and genetic alterations in human hepatocellular adenomas associated with type Ia glycogen storage disease.

Hum Mol Genet 2009 Dec 16;18(24):4781-90. Epub 2009 Sep 16.

Division of Medical Genetics, Duke University Medical Center, Durham, NC 27710, USA.

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http://dx.doi.org/10.1093/hmg/ddp441DOI Listing
December 2009

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

Genet Med 2009 Jul;11(7):536-41

Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, USA.

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http://dx.doi.org/10.1097/GIM.0b013e3181a87867DOI Listing
July 2009

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

Muscle Nerve 2009 Jul;40(1):32-6

Division of Medical Genetics, Department of Pediatrics, Biochemical Genetics Laboratory, Duke University Medical Center, 801 Capitola Drive, Suite 6, Durham, North Carolina 27713, USA.

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http://doi.wiley.com/10.1002/mus.21376
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http://dx.doi.org/10.1002/mus.21376DOI Listing
July 2009

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

Mol Genet Metab 2008 Dec 18;95(4):233-5. Epub 2008 Oct 18.

Division of Physical Therapy, Department of Community and Family Medicine, Duke University Medical Center, Durham, North Carolina, NC 27708, USA.

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http://dx.doi.org/10.1016/j.ymgme.2008.09.001DOI Listing
December 2008

A case of congenital glycogen storage disease type IV with a novel GBE1 mutation.

J Child Neurol 2008 Mar 29;23(3):349-52. Epub 2008 Jan 29.

Department of Neurology, Children's Hospital Boston and Harvard Medical School, 300 Longwood Avenue, Boston, MA, USA.

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http://journals.sagepub.com/doi/10.1177/0883073807309248
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http://dx.doi.org/10.1177/0883073807309248DOI Listing
March 2008

Glycogen storage disease type IIIa in curly-coated retrievers.

J Vet Intern Med 2007 Jan-Feb;21(1):40-6

Laboratory of Comparative Medical Genetics, Department of Microbiology and Molecular Genetics, College of Veterinary Medicine, Michigan State University, East Lansing 48824, USA.

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http://dx.doi.org/10.1892/0891-6640(2007)21[40:gsdtii]2.0.co;2DOI Listing
April 2007

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

J Hepatol 2007 Mar 9;46(3):492-8. Epub 2006 Nov 9.

Department of Pediatrics, Duke University Medical Center, Box 3528, Durham, NC 27710, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S016882780600571
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http://dx.doi.org/10.1016/j.jhep.2006.09.022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2683272PMC
March 2007

The use of acarbose inhibition in the measurement of acid alpha-glucosidase activity in blood lymphocytes for the diagnosis of Pompe disease.

Genet Med 2006 May;8(5):307-12

Department of Laboratories, Children's Hospital and Regional Medical Center, Seattle, WA 98105, USA.

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http://dx.doi.org/10.109701.gim.0000217785.19262.9eDOI Listing
May 2006

Non-lethal congenital hypotonia due to glycogen storage disease type IV.

Am J Med Genet A 2006 Apr;140(8):878-82

Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio 45229, USA.

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http://dx.doi.org/10.1002/ajmg.a.31166DOI Listing
April 2006

Glycogen storage disease type I: diagnosis and phenotype/genotype correlation.

Eur J Pediatr 2002 Oct 27;161 Suppl 1:S10-9. Epub 2002 Jul 27.

Biochemical Genetics Laboratory, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA.

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http://dx.doi.org/10.1007/s00431-002-0998-5DOI Listing
October 2002

Prenatal diagnosis in glycogen storage diseases.

Prenat Diagn 2002 May;22(5):357-9

Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, NC 27710, USA.

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http://dx.doi.org/10.1002/pd.166DOI Listing
May 2002