Andrea Paras

The Genetic Landscape and Epidemiology of Phenylketonuria

Alicia Hillert, Yair Anikster, Amaya Bélanger-Quintana et al. · The American Journal of Human Genetics · 2020 · 339 citations · Full text

Genetic Landscape, Genetic Disorder, Medicine +6

High dose genistein aglycone therapy is safe in patients with mucopolysaccharidoses involving the central nervous system

Katherine H. Kim, Charlotte Dodsworth, Andrea Paras et al. · Molecular Genetics and Metabolism · 2013 · 73 citations

Neuro-oncology, Medicine, Pathology +4

CDKL5 and ARX Mutations in Males With Early-Onset Epilepsy

Ghayda Mirzaa, Alex R. Paciorkowski, Eric D. Marsh et al. · Pediatric Neurology · 2013 · 57 citations

Mendelian Disorder, Genetic Disorder, Medicine +5

Home infusion therapy is safe and enhances compliance in patients with mucopolysaccharidoses

Barbara K. Burton, Chani Wiesman, Andrea Paras et al. · Molecular Genetics and Metabolism · 2009 · 26 citations

Translational Medicine, Enhances Compliance, Patient Safety +2

Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of <i>KCNH5</i>

Hannah C. Happ, Lynette G. Sadleir, Matthew Zemel et al. · Neurology · 2022 · 20 citations · Full text