Nancy D Leslie

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.

• Authors:
• Si Houn Hahn,
• David Kronn,
• Nancy D Leslie,
• Loren D M Pena,
• Pranoot Tanpaiboon,
• Michael J Gambello,
• James B Gibson,
• Richard Hillman,
• David W Stockton,
• John W Day,
• Raymond Y Wang,
• Kristina An Haack,
• Raheel Shafi,
• Susan Sparks,
• Yang Zhao,
• Catherine Wilson,
• Priya S Kishnani

• March 2018

Ethical Considerations Related to Return of Results from Genomic Medicine Projects: The eMERGE Network (Phase III) Experience.

• Authors:
• Robyn Fossey,
• David Kochan,
• Erin Winkler,
• Joel E Pacyna,
• Janet Olson,
• Stephen Thibodeau,
• John J Connolly,
• Margaret Harr,
• Meckenzie A Behr,
• Cynthia A Prows,
• Beth Cobb,
• Melanie F Myers,
• Nancy D Leslie,
• Bahram Namjou-Khales,
• Hila Milo Rasouly,
• Julia Wynn,
• Alexander Fedotov,
• Wendy K Chung,
• Ali Gharavi,
• Janet L Williams,
• Lynn Pais,
• Ingrid Holm,
• Sharon Aufox,
• Maureen E Smith,
• Aaron Scrol,
• Kathleen Leppig,
• Gail P Jarvik,
• Georgia L Wiesner,
• Rongling Li,
• Mary Stroud,
• Jordan W Smoller,
• Richard R Sharp,
• Iftikhar J Kullo

• January 2018

Mucopolysaccharidosis Type I Newborn Screening: Best Practices for Diagnosis and Management.

• Authors:
• Lorne A Clarke,
• Andrea M Atherton,
• Barbara K Burton,
• Debra L Day-Salvatore,
• Paige Kaplan,
• Nancy D Leslie,
• C Ronald Scott,
• David W Stockton,
• Janet A Thomas,
• Joseph Muenzer

• March 2017

Outcomes of four patients with homocysteine remethylation disorders detected by newborn screening.

• Authors:
• Derek Wong,
• Silvia Tortorelli,
• Lisa Bishop,
• Elizabeth A Sellars,
• Lisa A Schimmenti,
• Natalie Gallant,
• Carlos E Prada,
• Robert J Hopkin,
• Nancy D Leslie,
• Susan A Berry,
• David S Rosenblatt,
• Amy L Fair,
• Dietrich Matern,
• Kimiyo Raymond,
• Devin Oglesbee,
• Piero Rinaldo,
• Dimitar Gavrilov

• February 2016

Recurrent pancreatitis in ornithine transcarbamylase deficiency.

• Authors:
• Carlos E Prada,
• Ajay Kaul,
• Robert J Hopkin,
• Kimberley I Page,
• Jaimie D Nathan,
• Dennis W Bartholomew,
• Mitchell B Cohen,
• James E Heubi,
• Nancy D Leslie,
• T Andrew Burrow

• August 2012

Malonyl coenzyme A decarboxylase deficiency: early dietary restriction and time course of cardiomyopathy.

• Authors:
• Carlos E Prada,
• John L Jefferies,
• Michelle A Grenier,
• Christina M Huth,
• Kimberley I Page,
• Robert L Spicer,
• Jeffrey A Towbin,
• Nancy D Leslie

• August 2012

Evidence-based path to newborn screening for Duchenne muscular dystrophy.

• Authors:
• Jerry R Mendell,
• Chris Shilling,
• Nancy D Leslie,
• Kevin M Flanigan,
• Roula al-Dahhak,
• Julie Gastier-Foster,
• Kelley Kneile,
• Diane M Dunn,
• Brett Duval,
• Alexander Aoyagi,
• Cindy Hamil,
• Maha Mahmoud,
• Kandice Roush,
• Lauren Bird,
• Chelsea Rankin,
• Heather Lilly,
• Natalie Street,
• Ram Chandrasekar,
• Robert B Weiss

• March 2012

Cardiac disease in methylmalonic acidemia.

• Authors:
• Carlos E Prada,
• Fatma Al Jasmi,
• Edwin P Kirk,
• Maxwell Hopp,
• Owen Jones,
• Nancy D Leslie,
• T Andrew Burrow

• November 2011

The effects of gestational age and birth weight on false-positive newborn-screening rates.

• Authors:
• Jonathan L Slaughter,
• Jareen Meinzen-Derr,
• Susan R Rose,
• Nancy D Leslie,
• Ram Chandrasekar,
• Sharon M Linard,
• Henry T Akinbi

• November 2010

Intellectual disability, midface hypoplasia, facial hypotonia, and Alport syndrome are associated with a deletion in Xq22.3.

• Authors:
• Jayson D Rodriguez,
• Shambhu S Bhat,
• Ilaria Meloni,
• Sydney Ladd,
• Nancy D Leslie,
• Emanuel O Doyne,
• Alessandra Renieri,
• Barbara R Dupont,
• Roger E Stevenson,
• Charles E Schwartz,
• Anand K Srivastava

• March 2010

Early treatment with alglucosidase alpha prolongs long-term survival of infants with Pompe disease.

• Authors:
• Priya S Kishnani,
• Deya Corzo,
• Nancy D Leslie,
• Daniel Gruskin,
• Ans Van der Ploeg,
• John P Clancy,
• Rosella Parini,
• Gilles Morin,
• Michael Beck,
• Mislen S Bauer,
• Mikael Jokic,
• Chen-En Tsai,
• Brian W H Tsai,
• Claire Morgan,
• Tara O'Meara,
• Susan Richards,
• Elisa C Tsao,
• Hanna Mandel

• September 2009

A novel hereditary spastic paraplegia with dystonia linked to chromosome 2q24-2q31.

• Authors:
• Donald L Gilbert,
• Elizabeth J Leslie,
• Mehdi Keddache,
• Nancy D Leslie

• February 2009

Review of the use of idursulfase in the treatment of mucopolysaccharidosis II.

• Authors:
• T Andrew Burrow,
• Nancy D Leslie

• June 2008

Prolactin signaling through the short form of its receptor represses forkhead transcription factor FOXO3 and its target gene galt causing a severe ovarian defect.

• Authors:
• Julia Halperin,
• Y Sangeeta Devi,
• Sangeeta Y Devi,
• Shai Elizur,
• Carlos Stocco,
• Aurora Shehu,
• Diane Rebourcet,
• Terry G Unterman,
• Nancy D Leslie,
• Jamie Le,
• Nadine Binart,
• Geula Gibori

• February 2008

Enzyme reconstitution/replacement therapy for lysosomal storage diseases.

• Authors:
• T Andrew Burrow,
• Robert J Hopkin,
• Nancy D Leslie,
• Bradley T Tinkle,
• Gregory A Grabowski

• December 2007

An updated review of the long-term neurological effects of galactosemia.

• Authors:
• Keith R Ridel,
• Nancy D Leslie,
• Donald L Gilbert

• September 2005

Undetectable maternal serum uE3 and postnatal abnormal sterol and steroid metabolism in Antley-Bixler syndrome.

• Authors:
• Deborah L Cragun,
• Sharon K Trumpy,
• Cedric H L Shackleton,
• Richard I Kelley,
• Nancy D Leslie,
• Neil P Mulrooney,
• Robert J Hopkin

• August 2004

Insights into the pathogenesis of galactosemia.

• Authors:
• Nancy D Leslie

Bilateral cataracts in a 6-yr-old with new onset diabetes: a novel presentation of a known INS gene mutation.

• Authors:
• Halley Wasserman,
• Robert B Hufnagel,
• Virginia Miraldi Utz,
• Kejian Zhang,
• C Alexander Valencia,
• Nancy D Leslie,
• Nancy A Crimmins

Inborn Errors of Metabolism Collaborative: large-scale collection of data on long-term follow-up for newborn-screened conditions.

• Authors:
• Susan A Berry,
• Nancy D Leslie,
• Mathew J Edick,
• Sally Hiner,
• Kaitlin Justice,
• Cynthia Cameron