Stephanie Austin

Stephanie Austin

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Stephanie Austin

Stephanie Austin

Publications by authors named "Stephanie Austin"

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55Publications

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Neuroimaging findings in infantile Pompe patients treated with enzyme replacement therapy.

Mol Genet Metab 2018 Feb 13;123(2):85-91. Epub 2017 Oct 13.

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

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February 2018

PRKAG2 mutations presenting in infancy.

J Inherit Metab Dis 2017 11 11;40(6):823-830. Epub 2017 Aug 11.

Medical Genetics, Department of Pediatrics, Duke University Medical Center, DUMC 103856, 595 Lasalle Street, GSRB 1, 4th Floor, Room 4010, Durham, NC, 27710, USA.

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November 2017

Motivational pathways of occupational and organizational turnover intention among newly registered nurses in Canada.

Nurs Outlook 2017 Jul - Aug;65(4):444-454. Epub 2017 May 26.

Department of Human Resources Management, Université du Québec à Trois-Rivières, Québec, Canada.

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September 2017

Alglucosidase alfa enzyme replacement therapy as a therapeutic approach for a patient presenting with a PRKAG2 mutation.

Mol Genet Metab 2017 Jan - Feb;120(1-2):96-100. Epub 2016 Sep 28.

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

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August 2017

Cognitive and academic outcomes in long-term survivors of infantile-onset Pompe disease: A longitudinal follow-up.

Mol Genet Metab 2017 06 1;121(2):127-137. Epub 2017 May 1.

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

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June 2017

Antibody-mediated enzyme replacement therapy targeting both lysosomal and cytoplasmic glycogen in Pompe disease.

J Mol Med (Berl) 2017 May 2;95(5):513-521. Epub 2017 Feb 2.

Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC, 27710, USA.

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May 2017

The emerging phenotype of late-onset Pompe disease: A systematic literature review.

Mol Genet Metab 2017 03 11;120(3):163-172. Epub 2016 Dec 11.

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

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March 2017

Alglucosidase alfa treatment alleviates liver disease in a mouse model of glycogen storage disease type IV.

Mol Genet Metab Rep 2016 Dec 4;9:31-33. Epub 2016 Oct 4.

Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC 27710, USA.

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December 2016

Public Health Adaptation to Climate Change in OECD Countries.

Int J Environ Res Public Health 2016 09 7;13(9). Epub 2016 Sep 7.

Enteric Surveillance and Population Studies Division, Centre for Food-Borne, Environmental and Zoonotic Infectious Diseases, Public Health Agency of Canada, 255 Woodlawn Road West, Unit 120, Guelph, ON N1H 8J1, Canada.

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September 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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July 2016

Public Health Adaptation to Climate Change in Large Cities: A Global Baseline.

Int J Health Serv 2016 24;46(1):53-78. Epub 2015 Dec 24.

Department of Geography, McGill University, Montreal, Quebec, Canada.

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April 2016

Transformational and abusive leadership practices: impacts on novice nurses, quality of care and intention to leave.

J Adv Nurs 2016 Mar 25;72(3):582-92. Epub 2015 Nov 25.

Département des sciences de la gestion, Université du Québec à Trois-Rivières, Trois-Rivières, Quebec, Canada.

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March 2016

Work environment antecedents of bullying: A review and integrative model applied to registered nurses.

Int J Nurs Stud 2016 Mar 27;55:85-97. Epub 2015 Oct 27.

Department of Psychology, Université du Québec à Montréal, Quebec, Canada.

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March 2016

Natural Progression of Canine Glycogen Storage Disease Type IIIa.

Comp Med 2016 Feb;66(1):41-51

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

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February 2016

Characterization of gait in late onset Pompe disease.

Mol Genet Metab 2015 Nov 5;116(3):152-6. Epub 2015 Sep 5.

Duke University Medical Center, DUMC 103857, 905 La Salle, GSRB1, 4(th) Floor Durham, NC 27710.

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November 2015

Lower Urinary Tract Symptoms and Incontinence in Children with Pompe Disease.

JIMD Rep 2016 5;28:59-67. Epub 2015 Nov 5.

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

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November 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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April 2015

Small-fiber neuropathy in pompe disease: first reported cases and prospective screening of a clinic cohort.

Am J Case Rep 2015 Apr 3;16:196-201. Epub 2015 Apr 3.

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

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April 2015

Expanding our understanding of lower urinary tract symptoms and incontinence in adults with pompe disease.

JIMD Rep 2015 23;20:5-10. Epub 2015 Jan 23.

Department of Urology, Boston Children's Hospital, 300 Longwood Avenue Hunnewell 3, Boston, MA, 02115, USA,

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March 2015

A longitudinal investigation of workplace bullying, basic need satisfaction, and employee functioning.

J Occup Health Psychol 2015 Jan 25;20(1):105-16. Epub 2014 Aug 25.

Department of Management, Université du Québec à Trois-Rivières.

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January 2015

Public health adaptation to climate change in Canadian jurisdictions.

Int J Environ Res Public Health 2015 Jan 12;12(1):623-51. Epub 2015 Jan 12.

Environmental Issues Division, Public Health Agency of Canada, 255 Woodlawn Road West, Unit 120, Guelph, ON N1H 8J1, Canada.

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January 2015

Variability of disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the PHKG2 gene.

Mol Genet Metab 2014 Mar 19;111(3):309-313. Epub 2013 Dec 19.

Department of Pediatrics, Box 103856, Duke University Health System, Durham, NC 27710, USA. Electronic address:

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March 2014

The value of muscle biopsies in Pompe disease: identifying lipofuscin inclusions in juvenile- and adult-onset patients.

Acta Neuropathol Commun 2014 Jan 2;2. Epub 2014 Jan 2.

Laboratory of Muscle Stem Cells and Gene Regulation, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD 20892, USA.

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January 2014

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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December 2013

Menorrhagia in patients with type I glycogen storage disease.

Obstet Gynecol 2013 Dec;122(6):1246-54

Departments of Pediatrics, Divisions of Medical Genetics, Duke University Medical Center, Durham, North Carolina, and University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania; and the Department of Obstetrics and Gynecology, University of Virginia School of Medicine, Charlottesville, Virginia.

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December 2013

Longitudinal testing of a dietary self-care motivational model in adolescents with diabetes.

J Psychosom Res 2013 Aug 14;75(2):153-9. Epub 2013 Jun 14.

School of Psychology, Université Laval, Québec, Canada.

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August 2013

Workplace psychological harassment in Canadian nurses: a descriptive study.

J Health Psychol 2013 Mar 27;18(3):383-96. Epub 2012 Apr 27.

Department of Psychology, Université du Québec à Trois-Rivières, Canada.

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March 2013

Alglucosidase alfa enzyme replacement therapy as a therapeutic approach for glycogen storage disease type III.

Mol Genet Metab 2013 Feb 27;108(2):145-7. Epub 2012 Dec 27.

Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA.

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February 2013

Characterization of a canine model of glycogen storage disease type IIIa.

Dis Model Mech 2012 Nov 26;5(6):804-11. Epub 2012 Jun 26.

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

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November 2012

Bulbar muscle weakness and fatty lingual infiltration in glycogen storage disorder type IIIa.

Mol Genet Metab 2012 Nov 28;107(3):496-500. Epub 2012 Sep 28.

Department of Radiology, Duke University Medical Center, DUMC 3808 Durham, NC 27710, USA.

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November 2012

Characterization and pathogenesis of anemia in glycogen storage disease type Ia and Ib.

Genet Med 2012 Sep 7;14(9):795-9. Epub 2012 Jun 7.

Glycogen Storage Disease Program and Division of Pediatric Endocrinology, Department of Pediatrics, University of Florida, Gainesville, FL, USA.

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September 2012

Clinical implications of direct-to-consumer genetic testing for cardiovascular disease risk.

Can J Cardiol 2011 Nov-Dec;27(6):682-4. Epub 2011 Jun 8.

Schulich School of Medicine and Dentistry and Robarts Research Institute, University of Western Ontario, London, Ontario, Canada.

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January 2012

Common mutation in the PHKA2 gene with variable phenotype in patients with liver phosphorylase b kinase deficiency.

Mol Genet Metab 2011 Dec 26;104(4):691-4. Epub 2011 Aug 26.

Department of Pediatrics, Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Center, The Netherlands.

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December 2011

Effects of gender, age, and diabetes duration on dietary self-care in adolescents with type 1 diabetes: a Self-Determination Theory perspective.

J Health Psychol 2011 Sep 23;16(6):917-28. Epub 2011 Mar 23.

School of Psychology, Université Laval, Québec, Canada.

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September 2011

External ear sarcoma: a review of the Surveillance Epidemiology and End Result (SEER 17) database.

Ear Nose Throat J 2011 Aug;90(8):348-58

Graduate Medical Education Department, Kaiser Permanente Oakland Medical Center, Oakland, CA, USA.

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August 2011

Vocal fold varicosities.

Ear Nose Throat J 2011 Feb;90(2):56-7

Department of Otolaryngology-Head and Neck Surgery, Drexel University College of Medicine, Philadelphia, PA, USA.

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February 2011

The electrodiagnostic characteristics of Glycogen Storage Disease Type III.

Genet Med 2010 Jul;12(7):440-5

Division of Neurology, Department of Medicine, Duke University Medical Center, Durham, North Carolina 27710, USA.

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July 2010

Echocardiographic manifestations of Glycogen Storage Disease III: increase in wall thickness and left ventricular mass over time.

Genet Med 2010 Jul;12(7):413-23

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

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July 2010

Hypovitaminosis D in glycogen storage disease type I.

Mol Genet Metab 2010 Apr 21;99(4):434-7. Epub 2009 Dec 21.

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

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April 2010

Revisiting the factorial validity of the Revised UCLA Loneliness Scale: a test of competing models in a sample of teachers.

Psychol Rep 2009 Dec;105(3 Pt 1):849-56

Laboratoire de Recherche en Comportement Organisationnel, Département des Sciences de la Gestion, Université du Québec a Trois-Rivières, Canada.

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December 2009

Liver transplantation for glycogen storage disease type Ia.

J Hepatol 2009 Sep 17;51(3):483-90. Epub 2009 Jun 17.

Department of Surgery, Duke University Medical Center, Durham, NC, USA.

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September 2009