Stephanie Dearmey

Stephanie Dearmey

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Stephanie Dearmey

Stephanie Dearmey

Publications by authors named "Stephanie Dearmey"

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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

Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease.

Mol Genet Metab 2017 12 17;122(4):189-197. Epub 2017 Oct 17.

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

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http://dx.doi.org/10.1016/j.ymgme.2017.10.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5907499PMC
December 2017

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

Case series: Odontohypophosphatasia or missed diagnosis of childhood/adult-onset hypophosphatasia? - Call for a long-term follow-up of premature loss of primary teeth.

Bone Rep 2016 Dec 26;5:228-232. Epub 2016 Aug 26.

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

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http://dx.doi.org/10.1016/j.bonr.2016.08.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5440952PMC
December 2016

Death from supine asphyxia in late onset pompe disease: Two patients.

Am J Med Genet A 2016 07 4;170(7):1928-9. Epub 2016 May 4.

Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina.

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http://dx.doi.org/10.1002/ajmg.a.37687DOI Listing
July 2016

Safety and efficacy of alternative alglucosidase alfa regimens in Pompe disease.

Neuromuscul Disord 2015 Apr 19;25(4):321-32. Epub 2014 Dec 19.

Duke University Medical Center, Durham, North Carolina, USA. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2014.12.004DOI Listing
April 2015

Longitudinal polysomnographic findings in infantile Pompe disease.

Am J Med Genet A 2015 Apr 23;167A(4):858-61. Epub 2015 Feb 23.

Division of Pediatric Neurology, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina.

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http://doi.wiley.com/10.1002/ajmg.a.37007
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http://dx.doi.org/10.1002/ajmg.a.37007DOI Listing
April 2015

Immunological Factors in Pompe Disease Management: Clinical Experience and Implications for Newborn Screening.

J Neuromuscul Dis 2015;2(s1):S7

Division of Therapeutic Proteins, Office of Biotechnology Products, Center for Drug Evaluation and Research, United States Food and Drug Administration.

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January 2015

Polysomnographic findings in infantile Pompe disease.

Am J Med Genet A 2013 Dec 2;161A(12):3196-200. Epub 2013 Oct 2.

Division of Pediatric Neurology, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina.

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http://dx.doi.org/10.1002/ajmg.a.36227DOI Listing
December 2013

Low anal sphincter tone in infantile-onset Pompe Disease: an emerging clinical issue in enzyme replacement therapy patients requiring special attention.

Mol Genet Metab 2013 Feb 29;108(2):142-4. Epub 2012 Nov 29.

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.ymgme.2012.11.013DOI Listing
February 2013

The clinical and electrodiagnostic characteristics of Pompe disease with post-enzyme replacement therapy findings.

Clin Neurophysiol 2011 Nov 13;122(11):2312-7. Epub 2011 May 13.

Division of Neurology/Department of Medicine, Duke University Medical Center, Durham, NC, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S13882457110027
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http://dx.doi.org/10.1016/j.clinph.2011.04.016DOI Listing
November 2011

Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants.

Mol Genet Metab 2010 Jan;99(1):26-33

Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Box 103856 DUMC, 4th Floor GSRBI, 595 LaSalle Street, Durham, NC 27710, USA.

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http://dx.doi.org/10.1016/j.ymgme.2009.08.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3721340PMC
January 2010

Improvement with ongoing Enzyme Replacement Therapy in advanced late-onset Pompe disease: a case study.

Mol Genet Metab 2008 Dec 18;95(4):233-5. Epub 2008 Oct 18.

Division of Physical Therapy, Department of Community and Family Medicine, Duke University Medical Center, Durham, North Carolina, NC 27708, USA.

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http://dx.doi.org/10.1016/j.ymgme.2008.09.001DOI Listing
December 2008

Cardiac arrhythmias following anesthesia induction in infantile-onset Pompe disease: a case series.

Paediatr Anaesth 2007 Aug;17(8):738-48

Division of Pediatric Anesthesiology, Duke Uinvesity Medical Center, Durham, NC 27710, USA.

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http://dx.doi.org/10.1111/j.1460-9592.2007.02215.xDOI Listing
August 2007

Fractures in children with Pompe disease: a potential long-term complication.

Pediatr Radiol 2007 May 7;37(5):437-45. Epub 2007 Mar 7.

Division of Physical Therapy, Department of Community and Family Medicine, Duke University Medical Center, Durham, NC, USA.

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http://dx.doi.org/10.1007/s00247-007-0428-yDOI Listing
May 2007