Loren Peña

Clinical delineation and natural history of the <i>PIK3CA</i>‐related overgrowth spectrum

Kim M. Keppler‐Noreuil, Julie C. Sapp, Marjorie J. Lindhurst et al. · American Journal of Medical Genetics Part A · 2014 · 301 citations · Full text

Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial

Jordi Díaz‐Manera, Priya S. Kishnani, Hani Kushlaf et al. · The Lancet Neurology · 2021 · 169 citations · Full text

Late-onset Pompe Disease, Autoimmune Disease, Clinical Infectious Disease +3

Not the End of the Odyssey: Parental Perceptions of Whole Exome Sequencing (WES) in Pediatric Undiagnosed Disorders

Allyn McConkie Rosell, Loren Peña, Kelly Schoch et al. · Journal of Genetic Counseling · 2016 · 126 citations · Full text

Loss of tubulin deglutamylase <scp>CCP</scp> 1 causes infantile‐onset neurodegeneration

Vandana Shashi, Maria M. Magiera, Dennis Klein et al. · The EMBO Journal · 2018 · 122 citations · Full text

Neurodegenerative Diseases, Neurobiology Of Disease, Molecular Neuroscience +7

Safety, tolerability, pharmacokinetics, pharmacodynamics, and exploratory efficacy of the novel enzyme replacement therapy avalglucosidase alfa (neoGAA) in treatment-naïve and alglucosidase alfa-treated patients with late-onset Pompe disease: A phase 1, open-label, multicenter, multinational, ascending dose study

Loren Peña, Richard J. Barohn, Barry J. Byrne et al. · Neuromuscular Disorders · 2018 · 89 citations · Full text

Dose Study, Immunodeficiencies, Pharmacotherapy +3