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

Featured Works

Molecular analysis of the AGL gene: identification of 25 novel mutations and evidence of genetic heterogeneity in patients with Glycogen Storage Disease Type III.

Journal article Genet Med · July 2010 Featured Publication PURPOSE: Glycogen Storage Disease Type III (limit dextrinosis; Cori or Forbes disease) is an autosomal recessive disorder of glycogen metabolism caused by deficient activity of glycogen debranching enzyme in liver and muscle (Glycogen Storage Disease Type ... Full text Link to item Cite

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

Journal article Mol Genet Metab · December 2008 Featured Publication Benefits of enzyme replacement therapy with Myozyme (alglucosidase alfa), anecdotally reported in late-onset Pompe disease, range from motor and pulmonary improvement in less severely affected patients, to stabilization with minimal improvement in those wi ... Full text Link to item Cite

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

Journal article J Child Neurol · March 2008 Featured Publication Glycogen storage disease type IV (Andersen disease) is a rare metabolic disorder characterized by deficient glycogen branching enzyme activity resulting in abnormal, amylopectin-like glycogen deposition in multiple organs. This article reports on an infant ... Full text Link to item Cite

Methods for a prompt and reliable laboratory diagnosis of Pompe disease: report from an international consensus meeting.

Journal article Mol Genet Metab · March 2008 Featured Publication Pompe disease is an autosomal recessive disorder of glycogen metabolism caused by a deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA). It presents at any age, with variable rates of progression ranging from a rapidly progressive course, often ... Full text Link to item Cite

Rapid diagnosis of late-onset Pompe disease by fluorometric assay of alpha-glucosidase activities in dried blood spots.

Journal article Mol Genet Metab · April 2007 Featured Publication The enzymatic defect in Pompe disease is insufficient lysosomal acid alpha-glucosidase (GAA) activity which leads to lysosomal glycogen accumulation. We recently introduced a simple and reliable method to measure GAA activity in dried blood spots using Aca ... Full text Link to item Cite

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

Journal article J Hepatol · March 2007 Featured Publication BACKGROUND/AIMS: Glycogen storage disease III (GSD III) is caused by a deficiency of glycogen-debranching enzyme which causes an incomplete glycogenolysis resulting in glycogen accumulation with abnormal structure (short outer chains resembling limit dextr ... Full text Link to item Cite

Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease.

Journal article Neurology · January 9, 2007 Featured Publication BACKGROUND: Pompe disease is a progressive metabolic neuromuscular disorder resulting from deficiency of lysosomal acid alpha-glucosidase (GAA). Infantile-onset Pompe disease is characterized by cardiomyopathy, respiratory and skeletal muscle weakness, and ... Full text Link to item Cite

Glycogen storage disease type IIIa in curly-coated retrievers.

Journal article J Vet Intern Med · 2007 Featured Publication BACKGROUND: Inborn errors of metabolism impose a significant genetic burden on purebred dogs and cats. The glycogen storage diseases are a category of such disorders that are typed by enzyme analysis, but deoxyribonucleic acid (DNA) based carrier tests are ... Full text Link to item Cite

Telithromycin and myasthenic crisis.

Journal article Clin Infect Dis · December 15, 2006 Featured Publication Full text Link to item Cite

The knowledge and perceptions of medical personnel relating to outcome after cardiac arrest.

Journal article Resuscitation · May 2006 Featured Publication OBJECTIVE: We sought to evaluate the knowledge of probable outcome by medical personnel for in-hospital and out-of-hospital cardiac arrests, and self-reported history of CPR training referrals for family members of cardiac patients. METHODS: One hundred pe ... Full text Link to item Cite

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

Journal article Genet Med · May 2006 Featured Publication PURPOSE: Acid alpha-glucosidase is present in various tissues, including blood cells. Historically, enzyme measurement in cultured fibroblasts, or muscle, has been the gold standard to confirm a diagnosis of Pompe disease, due to the possibility of alterna ... Full text Link to item Cite

Pompe disease diagnosis and management guideline.

Journal article Genet Med · May 2006 Featured Publication Full text Link to item Cite

Comparison of maltose and acarbose as inhibitors of maltase-glucoamylase activity in assaying acid alpha-glucosidase activity in dried blood spots for the diagnosis of infantile Pompe disease.

Journal article Genet Med · May 2006 Featured Publication PURPOSE: The study's purpose was to compare acarbose and maltose as inhibitors of maltase-glucoamylase activity for determining acid alpha-glucosidase activity in dried blood spot specimens for early identification of patients with infantile Pompe disease, ... Full text Link to item Cite

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

Journal article Am J Med Genet A · April 15, 2006 Featured Publication Glycogen storage disease type IV (GSD-IV) is an autosomal recessive genetic disorder due to a deficiency in the activity of the glycogen branching enzyme (GBE). A deficiency in GBE activity results in the accumulation of glycogen with fewer branching point ... Full text Link to item Cite

Increased alpha2 subunit-associated AMPK activity and PRKAG2 cardiomyopathy.

Journal article Circulation · November 15, 2005 Featured Publication BACKGROUND: AMP-activated protein kinase (AMPK) regulatory gamma2 subunit (PRKAG2) mutations cause a human cardiomyopathy with cardiac hypertrophy, preexcitation, and glycogen deposition. PRKAG2 cardiomyopathy is recapitulated in transgenic mice overexpres ... Full text Link to item Cite

Amylopectinosis disease isolated to the heart with normal glycogen branching enzyme activity and gene sequence.

Journal article Pediatr Transplant · April 2005 Featured Publication We report a 17-month-old female patient with a rare cause of cardiomyopathy secondary to accumulation of amylopectin-like material (fibrillar glycogen) isolated to the heart. Evidence of amylopectinosis isolated to cardiac myocytes in this patient was demo ... Full text Link to item Cite

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

Journal article J Inherit Metab Dis · 2005 Featured Publication We present a series of 8 patients (6 males, 2 females) with hepatocellular carcinoma (HCC) and glycogen storage disease type Ia (GSD Ia). In this group, the age at which treatment was initiated ranged from birth to 39 years (mean 9.9 years). All patients b ... Full text Link to item Cite

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

Journal article Eur J Pediatr · October 2002 Featured Publication UNLABELLED: 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, hy ... Full text Link to item Cite

Prenatal diagnosis in glycogen storage diseases.

Journal article Prenat Diagn · May 2002 Featured Publication Full text Link to item Cite