Publications by authors named "Nancy D Leslie"

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Motor Responses in Pediatric Pompe Disease in the ADVANCE Participant Cohort.
Tina Duong, Priya S Kishnani, Kristina An Haack, Meredith C Foster, James B Gibson, Nancy D Leslie

J Neuromuscul Dis· November 2022

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Clinically available testing options resulting in diagnosis in post-exome clinic at one medical center.
Elizabeth K Baker, Elizabeth A Ulm, Alyce Belonis, Diana S Brightman, Barbara E Hallinan, Nancy D Leslie

Front Genet· July 2022

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Cardiac responses in paediatric Pompe disease in the ADVANCE patient cohort.
Barry J Byrne, Steven D Colan, Priya S Kishnani, Meredith C Foster, Susan E Sparks, Nancy D Leslie

Cardiol Young· March 2022

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A Novel Variant of ATP5MC3 Associated with Both Dystonia and Spastic Paraplegia.
Derek E Neilson, Michael Zech, Robert B Hufnagel, Jesse Slone, Xinjian Wang, Elizabeth J Leslie, Nancy D Leslie

Mov Disord· February 2022

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Participant choices for return of genomic results in the eMERGE Network.
Christin Hoell, Julia Wynn, Luke V Rasmussen, Keith Marsolo, Sharon A Aufox, Nancy D Leslie

Genet Med· November 2020

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Tertiary Pediatric Academic Institution's Experience With Intraoperative Neuromonitoring for Nonspinal Surgery in Children With Mucopolysaccharidosis, Based on a Novel Evidence-Based Care Algorithm.
Ali I Kandil, Cindy S Pettit, Lisa N Berry, Veronica O Busso, Matthew Careskey, Nancy D Leslie

Anesth Analg· June 2020

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Clinical characteristics and genotypes in the ADVANCE baseline data set, a comprehensive cohort of US children and adolescents with Pompe disease.
Priya S Kishnani, James B Gibson, Michael J Gambello, Richard Hillman, David W Stockton, Nancy D Leslie

Genet Med· November 2019

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Expanding and Underscoring the Hepato-Encephalopathic Phenotype of QIL1/MIC13.
Bianca E Russell, Kaitlin G Whaley, Kevin E Bove, Anatalia Labilloy, Rachel C Lombardo, Nancy D Leslie

Hepatology· September 2019

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Acquired ornithine transcarbamylase deficiency in pediatric and adolescent patients with fibrolamellar hepatocellular carcinoma.
Allison L Bartlett, Nancy D Leslie, Anita Gupta, James I Geller

Pediatr Blood Cancer· December 2018

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Efficacy, safety profile, and immunogenicity of alglucosidase alfa produced at the 4,000-liter scale in US children and adolescents with Pompe disease: ADVANCE, a phase IV, open-label, prospective study.
Si Houn Hahn, David Kronn, Nancy D Leslie, Loren D M Pena, Pranoot Tanpaiboon

Genet Med· October 2018

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Ethical Considerations Related to Return of Results from Genomic Medicine Projects: The eMERGE Network (Phase III) Experience.
Robyn Fossey, David Kochan, Erin Winkler, Joel E Pacyna, Janet Olson, Nancy D Leslie

J Pers Med· January 2018

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Mucopolysaccharidosis Type I Newborn Screening: Best Practices for Diagnosis and Management.
Lorne A Clarke, Andrea M Atherton, Barbara K Burton, Debra L Day-Salvatore, Paige Kaplan, Nancy D Leslie

J Pediatr· March 2017

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Inborn Errors of Metabolism Collaborative: large-scale collection of data on long-term follow-up for newborn-screened conditions.
Susan A Berry, Nancy D Leslie, Mathew J Edick, Sally Hiner, Kaitlin Justice

Genet Med· December 2016

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Bilateral cataracts in a 6-yr-old with new onset diabetes: a novel presentation of a known INS gene mutation.
Halley Wasserman, Robert B Hufnagel, Virginia Miraldi Utz, Kejian Zhang, C Alexander Valencia, Nancy D Leslie

Pediatr Diabetes· November 2016

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Outcomes of four patients with homocysteine remethylation disorders detected by newborn screening.
Derek Wong, Silvia Tortorelli, Lisa Bishop, Elizabeth A Sellars, Lisa A Schimmenti, Nancy D Leslie

Genet Med· February 2016

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Recurrent pancreatitis in ornithine transcarbamylase deficiency.
Carlos E Prada, Ajay Kaul, Robert J Hopkin, Kimberley I Page, Jaimie D Nathan, Nancy D Leslie

Mol Genet Metab· August 2012

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Malonyl coenzyme A decarboxylase deficiency: early dietary restriction and time course of cardiomyopathy.
Carlos E Prada, John L Jefferies, Michelle A Grenier, Christina M Huth, Kimberley I Page, Nancy D Leslie

Pediatrics· August 2012

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Evidence-based path to newborn screening for Duchenne muscular dystrophy.
Jerry R Mendell, Chris Shilling, Nancy D Leslie, Kevin M Flanigan, Roula al-Dahhak

Ann Neurol· March 2012

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Cardiac disease in methylmalonic acidemia.
Carlos E Prada, Fatma Al Jasmi, Edwin P Kirk, Maxwell Hopp, Owen Jones, Nancy D Leslie

J Pediatr· November 2011

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The effects of gestational age and birth weight on false-positive newborn-screening rates.
Jonathan L Slaughter, Jareen Meinzen-Derr, Susan R Rose, Nancy D Leslie, Ram Chandrasekar

Pediatrics· November 2010

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Intellectual disability, midface hypoplasia, facial hypotonia, and Alport syndrome are associated with a deletion in Xq22.3.
Jayson D Rodriguez, Shambhu S Bhat, Ilaria Meloni, Sydney Ladd, Nancy D Leslie

Am J Med Genet A· March 2010

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Early treatment with alglucosidase alpha prolongs long-term survival of infants with Pompe disease.
Priya S Kishnani, Deya Corzo, Nancy D Leslie, Daniel Gruskin, Ans Van der Ploeg

Pediatr Res· September 2009

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A novel hereditary spastic paraplegia with dystonia linked to chromosome 2q24-2q31.
Donald L Gilbert, Elizabeth J Leslie, Mehdi Keddache, Nancy D Leslie

Mov Disord· February 2009

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Review of the use of idursulfase in the treatment of mucopolysaccharidosis II.
T Andrew Burrow, Nancy D Leslie

Biologics· June 2008

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