Jariya Upadia

Liver fibrosis during clinical ascertainment of glycogen storage disease type III: a need for improved and systematic monitoring

Carine A. Halaby, Sarah P. Young, Stephanie Austin et al. · Genetics in Medicine · 2019 · 43 citations · Full text

Liver Fibrosis, Fibrosis, Hepatology +13

Bone manifestations in neuronopathic Gaucher disease while receiving high-dose enzyme replacement therapy

Kunal C. Potnis, Lauren B. Flueckinger, Christine I. Ha et al. · Molecular Genetics and Metabolism · 2018 · 24 citations

Bone Disease, Neuronopathic Gaucher Disease, Substrate Reduction Therapy +3

Novel de novo pathogenic variant in the <i>NR2F2</i> gene in a boy with congenital heart defect and dysmorphic features

Jariya Upadia, Patrick R. Gonzales, Nathaniel H. Robin · American Journal of Medical Genetics Part A · 2018 · 20 citations

A Familial Case of Multicentric Carpotarsal Osteolysis Syndrome and Treatment Outcome

Alicia Gomes, Peter Weiser, Maria Descartes et al. · Journal of Pediatric Genetics · 2018 · 20 citations · Full text

A case report of chromosome 17q22‐qter trisomy with distinct clinical presentation and review of the literature

Jariya Upadia, Joseph B. Philips, Nathaniel H. Robin et al. · Clinical Case Reports · 2018 · 13 citations · Full text