List of works - Deeksha Bali

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

scientific article published on 25 January 2017

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

scientific article published on November 1, 2003

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

scientific article published on 21 December 2011

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

scientific article

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

scientific article published on 17 January 2014

Adjunctive β2‐agonists reverse neuromuscular involvement in murine Pompe disease ⬇️

scientific article published on September 19, 2012

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

scientific article published on 27 December 2012

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.

scientific article

Assessing disease severity in Pompe disease: The roles of a urinary glucose tetrasaccharide biomarker and imaging techniques ⬇️

scientific article published on January 17, 2012

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

scientific article

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

scientific article

Clinical Laboratory Experience of Blood CRIM Testing in Infantile Pompe Disease

scientific article

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

scientific article

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

scientific article published on 18 February 2015

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

scientific article published on January 2010

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

scientific article published on 22 October 2014

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

scientific article published on 22 October 2014

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

scientific article

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

scientific article published on 02 February 2012

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

scientific article

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

scientific article

Echocardiographic manifestations of Glycogen Storage Disease III: increase in wall thickness and left ventricular mass over time

scientific article published on July 2010

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

scientific article published on February 13, 2011

Evaluation of X-Linked Adrenoleukodystrophy Newborn Screening in North Carolina

scientific article published on 03 January 2020

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

scientific article published on 27 July 2002

Glycogen storage disease type III diagnosis and management guidelines

scientific article

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

scientific article published on 9 November 2006

Glycogen storage disease type IV: novel mutations and molecular characterization of a heterogeneous disorder

scientific article published on 8 January 2010

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

scientific article published on 16 October 2013

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

scientific article published in January 2015

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

scientific article published on 18 October 2008

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

scientific article

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

scientific article published on 10 May 2017

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

scientific article

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

scientific article published on 11 September 2013

PRKAG2 mutations presenting in infancy

scientific article published on 11 August 2017

Pompe disease diagnosis and management guideline.

scientific article

Predicting cross‐reactive immunological material (CRIM) status in Pompe disease using GAA mutations: Lessons learned from 10 years of clinical laboratory testing experience ⬇️

scientific article published on January 17, 2012

Prenatal diagnosis in glycogen storage diseases

scientific article

Rapid assays for Gaucher and Hurler diseases in dried blood spots using digital microfluidics

scientific article published on 24 March 2013

Rare disorders of metabolism with elevated butyryl- and isobutyryl-carnitine detected by tandem mass spectrometry newborn screening

scientific article published on 7 May 2003

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

scientific article published in November 2017

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

scientific article

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

scientific article

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

scientific article

Successful immune tolerance induction to enzyme replacement therapy in CRIM-negative infantile Pompe disease.

scientific article published on January 2012

The North Carolina Experience with Mucopolysaccharidosis Type I Newborn Screening

scientific article published on 24 May 2019

The use of dried blood spot samples in the diagnosis of lysosomal storage disorders--current status and perspectives.

scientific article published on 23 July 2011

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

scientific article published on 19 December 2013

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

scientific article published on November 11, 2011

List of works by Deeksha Bali

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

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

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

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

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

Adjunctive β2‐agonists reverse neuromuscular involvement in murine Pompe disease ⬇️

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

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.

Assessing disease severity in Pompe disease: The roles of a urinary glucose tetrasaccharide biomarker and imaging techniques ⬇️

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

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

Clinical Laboratory Experience of Blood CRIM Testing in Infantile Pompe Disease

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

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

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

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

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

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

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

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

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

Echocardiographic manifestations of Glycogen Storage Disease III: increase in wall thickness and left ventricular mass over time

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

Evaluation of X-Linked Adrenoleukodystrophy Newborn Screening in North Carolina

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

Glycogen storage disease type III diagnosis and management guidelines

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

Glycogen storage disease type IV: novel mutations and molecular characterization of a heterogeneous disorder

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

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

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

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

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

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

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

PRKAG2 mutations presenting in infancy

Pompe disease diagnosis and management guideline.

Predicting cross‐reactive immunological material (CRIM) status in Pompe disease using GAA mutations: Lessons learned from 10 years of clinical laboratory testing experience ⬇️

Prenatal diagnosis in glycogen storage diseases

Rapid assays for Gaucher and Hurler diseases in dried blood spots using digital microfluidics

Rare disorders of metabolism with elevated butyryl- and isobutyryl-carnitine detected by tandem mass spectrometry newborn screening

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

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

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

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

Successful immune tolerance induction to enzyme replacement therapy in CRIM-negative infantile Pompe disease.

The North Carolina Experience with Mucopolysaccharidosis Type I Newborn Screening

The use of dried blood spot samples in the diagnosis of lysosomal storage disorders--current status and perspectives.

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

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