Eleanor G. Botha

LMNA mutations in atypical Werner's syndrome

Lishan Chen, Lin Lee, Brian A. Kudlow et al. · The Lancet · 2003 · 423 citations

Life Sciences, Genetics, Molecular Genetics +7

The emerging phenotype of long-term survivors with infantile Pompe disease

Sean N. Prater, Suhrad G. Banugaria, Stephanie DeArmey et al. · Genetics in Medicine · 2012 · 191 citations

Life Sciences, Neuroscience, Pediatrics +4

CRIM-negative infantile Pompe disease: characterization of immune responses in patients treated with ERT monotherapy

Kathryn L. Berrier, Zoheb B. Kazi, Sean N. Prater et al. · Genetics in Medicine · 2015 · 58 citations · Full text

Life Sciences, Immunology, Pediatrics +6

CRIM-Negative Pompe Disease Patients with Satisfactory Clinical Outcomes on Enzyme Replacement Therapy

Hamoud H. Al Khallaf, Jennifer Propst, Serge Geffrard et al. · JIMD Reports · 2012 · 12 citations

Life Sciences, Biochemistry, Immunology +12