Stephanie M Dearmey

Stephanie M Dearmey

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Stephanie M Dearmey

Stephanie M Dearmey

Publications by authors named "Stephanie M Dearmey"

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9Publications

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Corticobasal syndrome in a man with Gaucher disease type 1: Expansion of the understanding of the neurological spectrum.

Mol Genet Metab Rep 2018 Dec 18;17:69-72. Epub 2018 Oct 18.

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

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December 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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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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December 2017

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

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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February 2013

The emerging phenotype of long-term survivors with infantile Pompe disease.

Genet Med 2012 Sep 26;14(9):800-10. Epub 2012 Apr 26.

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

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September 2012

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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December 2008