Nancy Leslie

Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease

Marc Nicolino, Barry J. Byrne, J. Edmund Wraith et al. · Genetics in Medicine · 2009 · 290 citations · Full text

Pediatric Epidemiology, Clinical Epidemiology, Pediatrics +7

Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancy

Lee-Jun Wong, Nicola Brunetti‐Pierri, Qing Zhang et al. · Hepatology · 2007 · 115 citations

Early-treated phenylketonuria: Adult neuropsychologic outcome

M. Douglas Ris, Sharon E. Williams, Melanie M. Hunt et al. · The Journal of Pediatrics · 1994 · 105 citations

Neuropsychology, Clinical Neurology, Neuropsychiatry +4

<i>GAA</i> variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry

Arnold Reuser, Ans T. van der Ploeg, Yin‐Hsiu Chien et al. · Human Mutation · 2019 · 104 citations · Full text

Cardiometabolic Risk, Immunodeficiencies, Genetic Epidemiology +21

Diversity of approaches to classic galactosemia around the world: a comparison of diagnosis, intervention, and outcomes

Patricia Jumbo‐Lucioni, Kathryn B. Garber, John Kiel et al. · Journal of Inherited Metabolic Disease · 2012 · 87 citations · Full text