Joyce A. Kobori

The impact of antibodies on clinical outcomes in diseases treated with therapeutic protein: Lessons learned from infantile Pompe disease

Suhrad G. Banugaria, Sean N. Prater, Yiu-Ki Ng et al. · Genetics in Medicine · 2011 · 251 citations · Full text

Pharmacy, Immunology, Pediatrics +15

The Clinical Phenotype of Succinic Semialdehyde Dehydrogenase Deficiency (4-Hydroxybutyric Aciduria): Case Reports of 23 New Patients

K. Michael Gibson, Ernst Christensen, Cornelis Jakobs et al. · PEDIATRICS · 1997 · 143 citations · Full text

Medicine, Neurology, Pediatrics +13

Neuropsychiatric comorbidities in adults with phenylketonuria: A retrospective cohort study

Deborah A. Bilder, Joyce A. Kobori, Jessica Cohen‐Pfeffer et al. · Molecular Genetics and Metabolism · 2017 · 131 citations · Full text

Medicine, Neurology, Psychiatry +17

Maternal systemic primary carnitine deficiency uncovered by newborn screening: Clinical, biochemical, and molecular aspects

Ayman W. El‐Hattab, Fangyuan Li, Joseph Shen et al. · Genetics in Medicine · 2010 · 109 citations

Medicine, Biochemistry, Pediatrics +16

Bortezomib in the rapid reduction of high sustained antibody titers in disorders treated with therapeutic protein: lessons learned from Pompe disease

Suhrad G. Banugaria, Sean N. Prater, Judeth K. McGann et al. · Genetics in Medicine · 2012 · 86 citations · Full text

Life Sciences, Immunology, Pharmacotherapy +13