Nancy D Leslie

Nancy D Leslie

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Nancy D Leslie

Nancy D Leslie

Publications by authors named "Nancy D Leslie"

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Acquired ornithine transcarbamylase deficiency in pediatric and adolescent patients with fibrolamellar hepatocellular carcinoma.

Authors:
Allison L Bartlett Nancy D Leslie Anita Gupta James I Geller

Pediatr Blood Cancer 2018 Dec 9;65(12):e27392. Epub 2018 Aug 9.

Division of Pediatric Oncology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.

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http://dx.doi.org/10.1002/pbc.27392DOI Listing
December 2018

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

Genet Med 2018 10 22;20(10):1284-1294. Epub 2018 Mar 22.

Pediatrics, Duke University Medical Center, Durham, North Carolina, USA.

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http://dx.doi.org/10.1038/gim.2018.2DOI Listing
October 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

J Pers Med 2018 Jan 3;8(1). Epub 2018 Jan 3.

Department of Cardiovascular Diseases, Mayo Clinic, Rochester, MN 55905, USA.

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http://dx.doi.org/10.3390/jpm8010002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5872076PMC
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

J Pediatr 2017 03 7;182:363-370. Epub 2016 Dec 7.

University of North Carolina at Chapel Hill, Chapel Hill, NC.

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http://dx.doi.org/10.1016/j.jpeds.2016.11.036DOI Listing
March 2017

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

Genet Med 2016 12 19;18(12):1276-1281. Epub 2016 May 19.

Michigan Public Health Institute, Okemos, Michigan, USA.

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http://dx.doi.org/10.1038/gim.2016.57DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5116297PMC
December 2016

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

Pediatr Diabetes 2016 11 4;17(7):535-539. Epub 2015 Nov 4.

Division of Endocrinology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.

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http://dx.doi.org/10.1111/pedi.12335DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4854816PMC
November 2016

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

Genet Med 2016 Feb 9;18(2):162-7. Epub 2015 Apr 9.

Biochemical Genetics Laboratory, Mayo Clinic College of Medicine, Rochester, Minnesota, USA.

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http://dx.doi.org/10.1038/gim.2015.45DOI Listing
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

Mol Genet Metab 2012 Aug 15;106(4):482-4. Epub 2012 Jun 15.

Division of Human Genetics, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, USA.

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http://dx.doi.org/10.1016/j.ymgme.2012.06.005DOI Listing
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

Pediatrics 2012 Aug 9;130(2):e456-60. Epub 2012 Jul 9.

Division of Human Genetics, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, 3333 Burnet Ave, MLC 4006, Cincinnati, OH 45229, USA.

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http://dx.doi.org/10.1542/peds.2011-2927DOI Listing
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

Ann Neurol 2012 Mar;71(3):304-13

Department of Pediatrics, Ohio State University and Nationwide Children's Hospital, Columbus, OH 43205, USA.

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http://dx.doi.org/10.1002/ana.23528DOI Listing
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

J Pediatr 2011 Nov 23;159(5):862-4. Epub 2011 Jul 23.

Division of Human Genetics, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, OH, USA.

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http://dx.doi.org/10.1016/j.jpeds.2011.06.005DOI Listing
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

Pediatrics 2010 Nov 25;126(5):910-6. Epub 2010 Oct 25.

Cincinnati Children's Hospital Medical Center, Division of Neonatology, University of Cincinnati College of Medicine, 3333 Burnet Ave, Cincinnati, OH 45229-3039, USA.

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http://pediatrics.aappublications.org/cgi/doi/10.1542/peds.2
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http://dx.doi.org/10.1542/peds.2010-0943DOI Listing
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

Am J Med Genet A 2010 Mar;152A(3):713-7

JC Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, South Carolina, USA.

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http://dx.doi.org/10.1002/ajmg.a.33208DOI Listing
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

Pediatr Res 2009 Sep;66(3):329-35

Department of Pediatrics, Duke University Medical Center, Durham, North Carolina 27710, USA.

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http://dx.doi.org/10.1203/PDR.0b013e3181b24e94DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3129995PMC
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

Mov Disord 2009 Feb;24(3):364-70

Division of Neurology, Department of Pediatrics, Cincinnati Children's Hospital Medical Center, University of Cincinnati School of Medicine, Cincinnati, Ohio 45229-3039, USA.

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http://dx.doi.org/10.1002/mds.22363DOI Listing
February 2009

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

Authors:
T Andrew Burrow Nancy D Leslie

Biologics 2008 Jun;2(2):311-20

The Division of Human Genetics, Cincinnati Children's Hospital Medical Center, and the Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2721351PMC
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

Mol Endocrinol 2008 Feb 1;22(2):513-22. Epub 2007 Nov 1.

Department of Physiology and Biophysics, College of Medicine, University of Illinois at Chicago, 835 South Wolcott, M/C 901, Chicago, IL 60612, USA.

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http://dx.doi.org/10.1210/me.2007-0399DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2234584PMC
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

Curr Opin Pediatr 2007 Dec;19(6):628-35

Division of Human Genetics, Cincinnati Children's Hospital Medical Center and the Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio 45229-3039, USA.

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http://pdfs.journals.lww.com/co-pediatrics/2007/12000/Enzyme
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http://dx.doi.org/10.1097/MOP.0b013e3282f161f2DOI Listing
December 2007

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

Authors:
Keith R Ridel Nancy D Leslie Donald L Gilbert

Pediatr Neurol 2005 Sep;33(3):153-61

University of Cincinnati School of Medicine, Cincinnati, Ohio, USA.

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http://dx.doi.org/10.1016/j.pediatrneurol.2005.02.015DOI Listing
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

Am J Med Genet A 2004 Aug;129A(1):1-7

Cincinnati Children's Hospital Medical Center, Division of Human Genetics, Cincinnati, Ohio 45229, USA.

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http://dx.doi.org/10.1002/ajmg.a.30170DOI Listing
August 2004

Insights into the pathogenesis of galactosemia.

Authors:
Nancy D Leslie

Annu Rev Nutr 2003 9;23:59-80. Epub 2003 Apr 9.

Division of Human Genetics, Cincinnati Children's Hospital Research Foundation, 3333 Burnet Avenue, Cincinnati, Ohio 45229, USA.

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http://dx.doi.org/10.1146/annurev.nutr.23.011702.073135DOI Listing
November 2003