StephanieMDearmeyMD

PubMed

• 7 citations
  Phase I study of liver depot gene therapy in late-onset Pompe disease.
  Edward C Smith, Sam Hopkins, Laura E Case, Ming Xu, Crista Walters, Stephanie Dearmey, Sang-Oh Han, Tracy G Spears, Jessica A Chichester, Edward H Bossen, Christoph P ...> ;Molecular Therapy. 2023 Jul 5
• Glucosylsphingosine (Lyso-Gb): An Informative Biomarker in the Clinical Monitoring of Patients with Gaucher Disease.
  Matthew M Gayed, Seung-Hye Jung, Erin Huggins, Eleanor Rodriguez-Rassi, Stephanie DeArmey, Priya Sunil Kishnani, Ashlee R Stiles> ;International Journal of Molecular Sciences. 2022 Nov 29
• 33 citations
  Higher dosing of alglucosidase alfa improves outcomes in children with Pompe disease: a clinical study and review of the literature
  Aleena A. Khan, Laura E. Case, Mrudu Herbert, Stephanie DeArmey, Harrison N. Jones, Kelly D. Crisp, Kanecia O. Zimmerman, Mai K. ElMallah, Sarah P. Young, Priya S. Kis...> ;Genetics in Medicine. 2020 Jan 6
• 11 citations
  Pulmonary outcome measures in long-term survivors of infantile Pompe disease on enzyme replacement therapy: A case series.
  Mai K. ElMallah, Ankit K. Desai, Erica B. Nading, Stephanie DeArmey, Richard M. Kravitz, Priya S. Kishnani> ;Pediatric Pulmonology. 2020 Jan 3
• 4 citations
  Ectopic Ocular Surface Calcification in Patients With Hypophosphatasia Treated With Asfotase Alfa
  Sidney M. Gospe, Cecilia Santiago-Turla, Stephanie DeArmey, Thomas J. Cummings, Priya S. Kishnani, M. Tariq Bhatti> ;Cornea. 2019 Jul 1
• 5 citations
  Corticobasal syndrome in a man with Gaucher disease type 1: Expansion of the understanding of the neurological spectrum
  Lauren B. Flueckinger, Stephanie DeArmey, Roy N. Alcalay, Jeffrey W. Cooney, Priya S. Kishnani, Kunal C. Potnis> ;Molecular Genetics and Metabolism Reports. 2018 Oct 18
• 19 citations
  Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease.
  Mari Mori, Gloria T. Haskell, Zoheb B. Kazi, Xiaolin Zhu, Stephanie DeArmey, Jennifer L. Goldstein, Deeksha Bali, Catherine Rehder, Elizabeth T. Cirulli, Priya S. Kish...> ;Molecular Genetics and Metabolism. 2017 Dec 1
• 12 citations
  Enzyme replacement therapy with alglucosidase alfa in Pompe disease: Clinical experience with rate escalation.
  Ankit K. Desai, Crista Walters, Heidi L. Cope, Zoheb B. Kazi, Stephanie DeArmey, Priya S. Kishnani> ;Molecular Genetics and Metabolism. 2018 Feb 1
• 1198 citations
  Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy
  , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , ,...> ;The New England Journal of Medicine. 2017 Nov 1
• 5 citations
  Treatment of profound thrombocytopenia in a patient with Gaucher disease type 1: Is there a role for substrate reduction therapy
  Christine I. Ha, Stephanie DeArmey, Heidi Cope, Mugdha Rairikar, Priya S. Kishnani> ;Molecular Genetics and Metabolism Reports. 2017 Sep 1
• 4 citations
  Death from supine asphyxia in late onset pompe disease: Two patients
  Sujay Kansagra, Stephanie Austin, Stephanie DeArmey, Dwight D. Koeberl, Priya S. Kishnani> ;American Journal of Medical Genetics. Part A. 2016 May 4
• 37 citations
  Safety and efficacy of alternative alglucosidase alfa regimens in Pompe disease
  Laura E. Case, Carl Bjartmar, Claire Morgan, Robin Casey, Joel Charrow, John P. Clancy, Majed Dasouki, Stephanie DeArmey, Khan Nedd, Mary Nevins, Heidi Peters, Dawn Ph...> ;Neuromuscular Disorders. 2015 Apr 1
• 9 citations
  Longitudinal polysomnographic findings in infantile Pompe disease
  Sujay Kansagra, Stephanie Austin, Stephanie DeArmey, Zoheb B. Kazi, Richard M. Kravitz, Priya S. Kishnani> ;American Journal of Medical Genetics. Part A. 2015 Apr 1
• Immunological Factors in Pompe Disease Management: Clinical Experience and Implications for Newborn Screening.
  Priya S. Kishnani, Zoheb B. Kazi, Kathryn L. Berrier, Stephanie DeArmey, Deeksha Bali, Amy S. Rosenberg> ;Journal of Neuromuscular Diseases. 2015 Jan 1
• 21 citations
  Ocular and Histologic Findings in a Series of Children With Infantile Pompe Disease Treated With Enzyme Replacement Therapy
  S. Grace Prakalapakorn, Alan D. Proia, Tammy L. Yanovitch, Stephanie DeArmey, Nancy J. Mendelsohn, Kyrieckos A Aleck, Priya S. Kishnani> ;Journal of Pediatric Ophthalmology and Strabismus. 2014 Aug 20
• 18 citations
  Polysomnographic findings in infantile Pompe disease.
  Sujay Kansagra, Stephanie Austin, Stephanie DeArmey, Priya S. Kishnani, Richard M. Kravitz> ;American Journal of Medical Genetics. Part A. 2013 Dec 1
• 79 citations
  Algorithm for the early diagnosis and treatment of patients with cross reactive immunologic material-negative classic infantile pompe disease: a step towards improving...
  Suhrad G. Banugaria, Sean N. Prater, Trusha Patel, Stephanie DeArmey, Christie Milleson, Kathryn B. Sheets, Deeksha Bali, Catherine Rehder, Julian Raiman, Raymond A. W...> ;Plos One. 2013 Jun 25
• 137 citations
  The emerging phenotype of long-term survivors with infantile Pompe disease
  Sean N. Prater, Suhrad G. Banugaria, Stephanie DeArmey, Eleanor G. Botha, Erin M. Stege, Laura E. Case, Harrison N. Jones, Chanika Phornphutkul, Raymond Y. Wang, Sarah...> ;Genetics in Medicine. 2012 Sep 1
• 4 citations
  Low anal sphincter tone in infantile-onset Pompe Disease: an emerging clinical issue in enzyme replacement therapy patients requiring special attention.
  Queenie K.-G. Tan, Sue Mei Cheah, Stephanie DeArmey, Priya S. Kishnani> ;Molecular Genetics and Metabolism. 2013 Feb 1
• 35 citations
  The clinical and electrodiagnostic characteristics of Pompe disease with post-enzyme replacement therapy findings.
  Lisa D. Hobson-Webb, Stephanie DeArmey, Priya S. Kishnani> ;Clinical Neurophysiology. 2011 Nov 1
• 26 citations
  An individually, modified approach to desensitize infants and young children with Pompe disease, and significant reactions to alglucosidase alfa infusions.
  Areeg El-Gharbawy, Joanne Mackey, Stephanie DeArmey, Greg Westby, Sherry G. Grinnell, Peggy Malovrh, Robert L. Conway, Priya S. Kishnani> ;Molecular Genetics and Metabolism. 2011 Sep 1
• 24 citations
  Use of cardiac magnetic resonance imaging to evaluate cardiac structure, function and fibrosis in children with infantile Pompe disease on enzyme replacement therapy.
  Piers Barker, Sara K. Pasquali, Stephen Darty, Richard J. Ing, Jennifer S. Li, Raymond J. Kim, Stephanie DeArmey, Priya S. Kishnani, Michael J Campbell> ;Molecular Genetics and Metabolism. 2010 Dec 1
• 27 citations
  Improvement with ongoing Enzyme Replacement Therapy in advanced late-onset Pompe disease: a case study.
  Laura E. Case, Dwight D. Koeberl, Sarah P. Young, Deeksha Bali, Stephanie DeArmey, Joanne Mackey, Priya S. Kishnani> ;Molecular Genetics and Metabolism. 2008 Dec 1
• 35 citations
  Cardiac arrhythmias following anesthesia induction in infantile-onset Pompe disease: a case series
  Luke Y.-J. Wang, Allison Kinder Ross, Jennifer S. Li, Stephanie DeArmey, Joanne Mackey, Maryalice Worden, Deyanira Corzo, Claire Morgan, Priya S. Kishnani> ;Paediatric Anaesthesia. 2007 Aug 1
• 24 citations
  Fractures in children with Pompe disease: a potential long-term complication.
  Laura E. Case, Rabi Hanna, Donald P. Frush, Vidya Krishnamurthy, Stephanie DeArmey, Joanne Mackey, Anne Boney, Claire Morgan, Deyanira Corzo, Susan Bouchard, Thomas We...> ;Pediatric Radiology. 2007 Mar 7
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