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Deeksha Bali

Duke University

148

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Variable Genotype–Phenotype Correlation of Pompe's Disease Caused by a c.2015 G > A (p.Arg672Gln) Mutation in the GAA Gene

2021 Neuropediatrics
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Table 3. [Recommended Evaluations at Initial Diagnosis in Individuals with Glycogen Storage Disease Type I].

2021
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Table 2. [Disorders in the Differential Diagnosis of Glycogen Storage Disease Type I].

2021
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Characterization of liver GSD IX γ2 pathophysiology in a novel Phkg2−/− mouse model

2021 Molecular Genetics and Metabolism
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Phenotypic target organ and biomarker variation within a family with late onset Fabry disease

2021 Molecular Genetics and Metabolism
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Prenatal Diagnosis of Disorders of Carbohydrate Metabolism

2021
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Urinary glucose tetrasaccharide correlates with phenotype in Pompe disease in the newborn period

2021 Molecular Genetics and Metabolism
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Functional analysis and clinical curation of human acid alpha glucosidase (GAA) variants of unknown significance (VUS) screened from infants diagnosed with Pompe disease via newborn screening (NBS)

2021 Molecular Genetics and Metabolism
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Chronic liver disease and impaired hepatic glycogen metabolism in argininosuccinate lyase deficiency.

2020 JCI insight
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Characterization of dermatan sulfate and chondroitin sulfate in tissues from a mouse model of mucopolysaccharidosis type VI using UPLC-MS/MS

2020 Molecular Genetics and Metabolism
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