Maria R. Johnson

Genotype–phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/<i>PIGN</i>‐related epilepsy

Leah Fleming, Monica E. Lemmon, Natalie Beck et al. · American Journal of Medical Genetics Part A · 2015 · 47 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Biomarker Identification, Safety, and Efficacy of High-Dose Antioxidants for Adrenomyeloneuropathy: a Phase II Pilot Study

Carlos Casasnovas, Montserrat Ruíz, Agatha Schlüter et al. · Neurotherapeutics · 2019 · 43 citations · Full text

Medicine, Pharmacology, Pharmacotherapy +14

Introduction of sapropterin dihydrochloride as standard of care in patients with phenylketonuria

Hilary J. Vernon, Celide Koerner, Maria R. Johnson et al. · Molecular Genetics and Metabolism · 2010 · 42 citations · Full text

Pharmacy, Medicinal Chemistry, Organic Disease Management +1

A diversified approach for PKU treatment: Routine screening yields high incidence of psychiatric distress in phenylketonuria clinics

Barbara K. Burton, Lauren Leviton, Hazel Vespa et al. · Molecular Genetics and Metabolism · 2012 · 38 citations

Medicine, Pharmacology, Psychiatry +7

<i>De novo</i> loss of function mutations in <i><scp>KIAA2022</scp></i> are associated with epilepsy and neurodevelopmental delay in females

Rachel Webster, Megan T. Cho, Kyle Retterer et al. · Clinical Genetics · 2016 · 32 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17