Publications by authors named "Heidi Cope"

27Publications

Novel approaches to quantify CNS involvement in children with Pompe disease.

Neurology 2020 08 9;95(6):e718-e732. Epub 2020 Jun 9.

From the Division of Medical Genetics, Department of Pediatrics (A.K., M.S., S.L.A., H.C., P.S.K.), Department of Psychiatry and Behavioral Sciences (G.A.S.), Department of Surgery (K.C., H.J.), and Department of Neuroradiology (S.C., M.M., J.M.P.), Duke University Medical Center, Durham, NC; Department of Pediatric Neurology (M.H.), University of Kentucky Medical Center, Lexington; and Duke Clinical Research Institute (K.Z.), Durham, NC.

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http://dx.doi.org/10.1212/WNL.0000000000009979DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7455359PMC
August 2020

Early-onset of symptoms and clinical course of Pompe disease associated with the c.-32-13 T > G variant.

Mol Genet Metab 2019 02 23;126(2):106-116. Epub 2018 Aug 23.

Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, 905 S. LaSalle street, GSRB1, Durham, NC, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S10967192183028
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http://dx.doi.org/10.1016/j.ymgme.2018.08.009DOI Listing
February 2019

Severe Cardiac Involvement Is Rare in Patients with Late-Onset Pompe Disease and the Common c.-32-13T>G Variant: Implications for Newborn Screening.

J Pediatr 2018 07 4;198:308-312. Epub 2018 Apr 4.

Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC. Electronic address:

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http://dx.doi.org/10.1016/j.jpeds.2018.02.007DOI Listing
July 2018

Psychosocial Profiles of Parents of Children with Undiagnosed Diseases: Managing Well or Just Managing?

J Genet Couns 2018 08 2;27(4):935-946. Epub 2018 Jan 2.

Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.

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http://dx.doi.org/10.1007/s10897-017-0193-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6028305PMC
August 2018

Enzyme replacement therapy with alglucosidase alfa in Pompe disease: Clinical experience with rate escalation.

Mol Genet Metab 2018 02 23;123(2):92-96. Epub 2017 Dec 23.

Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2017.12.435DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5808871PMC
February 2018

Treatment of profound thrombocytopenia in a patient with Gaucher disease type 1: Is there a role for substrate reduction therapy.

Mol Genet Metab Rep 2017 Sep 22;12:82-84. Epub 2017 Jun 22.

Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.

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http://dx.doi.org/10.1016/j.ymgmr.2017.06.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5489868PMC
September 2017

Diet-Induced Obesity Enhances Progression of Hepatocellular Carcinoma through Tenascin-C/Toll-Like Receptor 4 Signaling.

Am J Pathol 2016 Jan 18;186(1):145-58. Epub 2015 Nov 18.

Department of Internal Medicine, Liver Pathobiology Laboratory, Carolinas Medical Center, Charlotte, North Carolina. Electronic address:

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http://dx.doi.org/10.1016/j.ajpath.2015.09.015DOI Listing
January 2016

Missing genetic risk in neural tube defects: can exome sequencing yield an insight?

Birth Defects Res A Clin Mol Teratol 2014 Aug 21;100(8):642-6. Epub 2014 Jul 21.

Duke Molecular Physiology Institute, DUMC, 300 North Duke Street, Durham, NC, 27701.

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http://dx.doi.org/10.1002/bdra.23276DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4169137PMC
August 2014

Genetic association analyses of nitric oxide synthase genes and neural tube defects vary by phenotype.

Birth Defects Res B Dev Reprod Toxicol 2013 Oct 9;98(5):365-73. Epub 2013 Dec 9.

Center for Human Genetics, Duke University Medical Center, Durham, North Carolina.

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http://doi.wiley.com/10.1002/bdrb.21079
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http://dx.doi.org/10.1002/bdrb.21079DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4169175PMC
October 2013

Outcome and life satisfaction of adults with myelomeningocele.

Disabil Health J 2013 Jul 10;6(3):236-43. Epub 2013 Jan 10.

Center for Human Genetics, Duke University Medical Center, 905 S. LaSalle St., Box 3445, Durham, NC 27710, USA.

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http://dx.doi.org/10.1016/j.dhjo.2012.12.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3687213PMC
July 2013