Scholars@Duke
Deeksha Sarihyan Bali

Deeksha Sarihyan Bali

Professor of Pediatrics
Pediatrics, Medical Genetics
4th Floor, GSRBI, 905 LaSalle Street, Division of Medical Genetics, Durham, NC 27710
801 Capitola Drive, Suite 6, Durham, NC 27713

Scholarly Works - Conferences

Enabling CNS delivery of rhGAA in GAA mice using focused ultrasound

Conference Molecular Genetics and Metabolism · February 2025 Full text Cite

In utero enzyme replacement therapy for lysosomal storage disorders

Conference JOURNAL OF INVESTIGATIVE MEDICINE · January 2025 Link to item Cite

Development of a scoring system to define lysosomal diseases

Conference Molecular Genetics and Metabolism · April 2024 Full text Cite

Development of a scoring system to define lysosomal disease

Conference Molecular Genetics and Metabolism · February 2024 Full text Cite

In utero enzyme replacement therapy in a fetus with infantile-onset Pompe disease

Conference Molecular Genetics and Metabolism · February 2022 Full text Cite

A phase 1 study of gene therapy with ACTUS-101 in late-onset Pompe disease

Conference Molecular Genetics and Metabolism · February 2020 Full text Cite

Quantification of glucosylsphingosine in plasma/serum by UPLC-MS/MS

Conference Molecular Genetics and Metabolism · February 2019 Full text Cite

Variable clinical features and progression in 18 patients with Pompe disease

Conference Molecular Genetics and Metabolism · February 2018 Full text Cite

Plasma lyso-Gb3 as a diagnostic marker for Fabry disease

Conference Molecular Genetics and Metabolism · February 2018 Full text Cite

Late onset Pompe disease case review: Severe isolated hypertrophic cardiomyopathy

Conference Molecular Genetics and Metabolism · February 2016 Full text Cite

Abstract 518: Identification of differentially expressed microRNAs in human hepatocellular adenoma associated with type I glycogen storage disease: a potential utility as biomarkers

Conference Cancer Research · October 1, 2014 AbstractBackground: It is known that malignant transformation to hepatocellular carcinoma (HCC) occurs at a higher frequency in hepatocellular adenoma (HCA) from type I glycogen storage disease (GSD I) compa ... Full text Cite

Clinical challenges diagnosing an infant with hypertrophic cardiomyopathy

Conference MOLECULAR GENETICS AND METABOLISM · March 1, 2012 Link to item Cite

Rapamycin is a potential therapy for glycogen storage disease type III

Conference MOLECULAR GENETICS AND METABOLISM · March 1, 2012 Link to item Cite

Rapid LSD Assays on a Multiplex Digital Microfluidic Platform for Newborn Screening

Conference Molecular Genetics and Metabolism · February 2012 Full text Cite

Digital microfluidic platform for multiplexing LSD assays in newborn screening

Conference Molecular Genetics and Metabolism · February 2011 Full text Cite

74. Immunological aspects of treatment of Pompe disease

Conference Molecular Genetics and Metabolism · February 2010 Full text Cite

Gamma polymerase deficiency presenting as glycogen storage disease.

Conference MOLECULAR GENETICS AND METABOLISM · March 2008 Link to item Cite

Hepatocellular carcinoma in glycogen storage disease type Ia: a case series.

Conference MOLECULAR GENETICS AND METABOLISM · March 2004 Link to item Cite

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

Conference European Journal of Pediatrics Supplement · January 1, 2002 Glycogen storage disease type Ia (GSD Ia) is caused by mutations in the G6PC gene encoding the phosphatase of the microsomal glucose-6-phosphatase system. GSD Ia is characterized by hepatomegaly, hypoglycemia, lactic acidemia, hyperuricemia, hyperlipidemia ... Full text Cite

Fine mapping of a genetic locus for Peutz-Jeghers syndrome on chromosome 19p.

Conference AMERICAN JOURNAL OF HUMAN GENETICS · October 1997 Link to item Cite

PEUTZ-JEGHERS SYNDROME MAPS TO CHROMOSOME 1P

Conference AMERICAN JOURNAL OF HUMAN GENETICS · October 1995 Link to item Cite