Amarilis Sanchez‐Valle

Adherence to clinic recommendations among patients with phenylketonuria in the United States

Elaina Jurecki, Stephen D. Cederbaum, Jeffrey W. Kopesky et al. · Molecular Genetics and Metabolism · 2017 · 193 citations · Full text

Medicine, Clinical Pharmacy, Clinical Epidemiology +5

Identification of Uncommon Recurrent Potocki-Lupski Syndrome-Associated Duplications and the Distribution of Rearrangement Types and Mechanisms in PTLS

Feng Zhang, Lorraine Potocki, Jacinda B. Sampson et al. · The American Journal of Human Genetics · 2010 · 98 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Evidence- and consensus-based recommendations for the use of pegvaliase in adults with phenylketonuria

Nicola Longo, David Dimmock, Harvey L. Levy et al. · Genetics in Medicine · 2018 · 88 citations · Full text

Medicine, Pharmacology, Pharmacotherapy +9

UX007 for the treatment of long chain-fatty acid oxidation disorders: Safety and efficacy in children and adults following 24 weeks of treatment

Jerry Vockley, Barbara K. Burton, Gerard T. Berry et al. · Molecular Genetics and Metabolism · 2017 · 78 citations · Full text

Life Sciences, Pharmacology, Pharmacotherapy +17

Results from a 78‐week, single‐arm, open‐label phase 2 study to evaluate UX007 in pediatric and adult patients with severe long‐chain fatty acid oxidation disorders (LC‐FAOD)

Jerry Vockley, Barbara K. Burton, Gerard T. Berry et al. · Journal of Inherited Metabolic Disease · 2019 · 60 citations · Full text

Life Sciences, Pediatrics, Pharmacology +16