StephanieAAustinMD

PubMed

• 8 citations
  A retrospective longitudinal study and comprehensive review of adult patients with glycogen storage disease type III
  Ghada Hijazi, Anna K. Paschall, Sarah P. Young, Brian Smith, Laura E. Case, Tracy Boggs, Sathya Amarasekara, Stephanie Austin, Surekha Pendyal, Areeg El-Gharbawy, Kris...> ;Molecular Genetics and Metabolism Reports. 2021 Nov 11
• 3 citations
  Physical therapy assessment and whole-body magnetic resonance imaging findings in children with glycogen storage disease type IIIa: A clinical study and review of the ...
  Anna K. Paschall, Aleena A. Khan, Syed Faaiz Enam, Tracy Boggs, Ghada Hijazi, Michael Bowling, Stephanie Austin, Laura E. Case, Priya S. Kishnani> ;Molecular Genetics and Metabolism. 2021 Oct 9
• 81 citations
  Targeted long-read sequencing identifies missing disease-causing variation
  Danny E. Miller, Arvis Sulovari, Tianyun Wang, Hailey Loucks, Kendra Hoekzema, Katherine M. Munson, Alexandra P. Lewis, Edith P Almanza Fuerte, Catherine R Paschal, Th...> ;American Journal of Human Genetics. 2021 Aug 5
• 4 citations
  Diurnal variability of glucose tetrasaccharide (Glc4) excretion in patients with glycogen storage disease type III.
  Sarah P. Young, Aleena A. Khan, Ela Stefanescu, Andrea M. Seifts, Ghada Hijazi, Stephanie Austin, Priya S. Kishnani> ;JIMD Reports. 2021 Mar 1
• 2 citations
  "Bull’s eye” appearance of hepatocellular adenomas in patients with glycogen storage disease type I — atypical magnetic resonance imaging findings: Two case reports
  Federica Vernuccio, Stephanie Austin, Mathias Meyer, Cynthia D. Guy, Priya S. Kishnani, Daniele Marin> ;World Journal of Clinical Cases. 2021 Feb 6
• 3 citations
  Quantitative whole-body magnetic resonance imaging in children with Pompe disease: Clinical tools to evaluate severity of muscle disease.
  Samuela A. Fernandes, Aleena A. Khan, Tracy Boggs, Michael Bowling, Stephanie Austin, Mihaela Stefanescu, Laura E. Case, Priya S. Kishnani> ;JIMD Reports. 2021 Jan 1
• 5 citations
  Use of the patient-reported outcomes measurement information system (PROMIS®) to assess late-onset Pompe disease severity.
  Melodi Harfouche, Priya S. Kishnani, Eva Krusinska, Jamie Gault, Sheela Sitaraman, Amanda Sowinski, Irina Katz, Stephanie Austin, Margi Goldstein, Andrew E. Mulberg> ;Journal of Patient-Reported Outcomes. 2020 Oct 9
• 3 citations
  Pregnancy Outcomes in Late Onset Pompe Disease.
  Ozlem Goker-Alpan, Vellore G. Kasturi, Maninder K. Sohi, Renuka P. Limgala, Stephanie Austin, Tabitha Jennelle, Maryam Banikazemi, Priya S. Kishnani> ;Life. 2020 Sep 11
• 4 citations
  Behavioral, social and school functioning in children with Pompe disease.
  Aditi Korlimarla, Gail A. Spiridigliozzi, Mihaela Stefanescu, Stephanie Austin, Priya S. Kishnani> ;Molecular Genetics and Metabolism Reports. 2020 Aug 5
• 1 citations
  Response to Heiner-Fokkema et al.
  Sarah P. Young, Aleena A. Khan, Stephanie Austin, Priya S. Kishnani> ;Genetics in Medicine. 2020 Jul 13
• 13 citations
  Novel approaches to quantify CNS involvement in children with Pompe disease.
  Aditi Korlimarla, Gail A. Spiridigliozzi, Kelly D. Crisp, Mrudu Herbert, Steven Chen, Michael D. Malinzak, Mihaela Stefanescu, Stephanie Austin, Heidi Cope, Kanecia O....> ;Neurology. 2020 Jun 9
• 13 citations
  Whole‐body magnetic resonance imaging in late‐onset Pompe disease: Clinical utility and correlation with functional measures
  Aleena A. Khan, Tracy Boggs, Michael Bowling, Stephanie Austin, Mihaela Stefanescu, Laura E. Case, Priya S. Kishnani> ;Journal of Inherited Metabolic Disease. 2020 May 1
• 26 citations
  Liver fibrosis during clinical ascertainment of glycogen storage disease type III: a need for improved and systematic monitoring
  Carine A. Halaby, Sarah P. Young, Stephanie Austin, Ela Stefanescu, Deeksha Bali, Lani K. Clinton, Brian Smith, Surekha Pendyal, Jariya Upadia, Gary R. Schooler, Alish...> ;Genetics in Medicine. 2019 Jul 2
• 62 citations
  Diagnosis and management of glycogen storage diseases type VI and IX: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).
  Priya S. Kishnani, Jennifer L. Goldstein, Stephanie Austin, Pamela Arn, Bert Bachrach, Deeksha Bali, Wendy K. Chung, Areeg El-Gharbawy, Laurie M. Brown, Stephen G. Kah...> ;Genetics in Medicine. 2019 Jan 19
• 4 citations
  PRKAG2 mutations presenting in infancy.
  Rachel D. Torok, Stephanie Austin, Chanika Phornphutkul, Kathleen M. Rotondo, Deeksha Bali, Gregory H. Tatum, Stephanie Burns Wechsler, Anne F. Buckley, Priya S. Kishnani> ;Journal of Inherited Metabolic Disease. 2017 Aug 11
• 2 citations
  Three cases of multi-generational Pompe disease: Are current practices missing diagnostic and treatment opportunities?
  Paul McIntosh, Stephanie Austin, Jennifer A. Sullivan, Lauren A. Bailey, Carrie Bailey, David Viskochil, Priya S. Kishnani> ;American Journal of Medical Genetics. Part A. 2017 Aug 1
• 16 citations
  Nasopharyngeal Carcinoma Diagnostic Challenge in a Nonendemic Setting: Our Experience with 101 Patients.
  Kevin H Wang, Stephanie A Austin, Sonia H Chen, David C Sonne, Deepak Gurushanthaiah> ;The Permanente Journal. 2017 Jan 1
• 110 citations
  The emerging phenotype of late-onset Pompe disease: A systematic literature review.
  Justin M. Chan, Ankit K. Desai, Zoheb B. Kazi, Kaitlyn Corey, Stephanie Austin, Lisa D. Hobson-Webb, Laura E. Case, Harrison N. Jones, Priya S. Kishnani> ;Molecular Genetics and Metabolism. 2017 Mar 1
• 20 citations
  Antibody-mediated enzyme replacement therapy targeting both lysosomal and cytoplasmic glycogen in Pompe disease.
  Haiqing Yi, Tao Sun, Dustin Armstrong, Scott Borneman, Chunyu Yang, Stephanie Austin, Priya S. Kishnani, Baodong Sun> ;Journal of Molecular Medicine. 2017 Feb 2
• 9 citations
  Clinical and Molecular Variability in Patients with PHKA2 Variants and Liver Phosphorylase b Kinase Deficiency.
  Deeksha Bali, Jennifer L. Goldstein, Keri Fredrickson, Stephanie Austin, Catherine Rehder, Priya S. Kishnani> ;JIMD Reports. 2017 Jan 1
• 3 citations
  Alglucosidase alfa treatment alleviates liver disease in a mouse model of glycogen storage disease type IV.
  Haiqing Yi, Fengqin Gao, Stephanie Austin, Priya S. Kishnani, Baodong Sun> ;Molecular Genetics and Metabolism Reports. 2016 Dec 1
• 9 citations
  Alglucosidase alfa enzyme replacement therapy as a therapeutic approach for a patient presenting with a PRKAG2 mutation
  Stephanie Austin, Andrew Chiou, Baodong Sun, Laura E. Case, Kenny Govendrageloo, Perrin Hansen, Priya S. Kishnani> ;Molecular Genetics and Metabolism. 2017 Jan 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
• 12 citations
  Natural Progression of Canine Glycogen Storage Disease Type IIIa.
  Elizabeth D. Brooks, Haiqing Yi, Stephanie Austin, Beth L. Thurberg, Sarah P. Young, John C. Fyfe, Priya S. Kishnani, Baodong Sun> ;Comparative Medicine. 2016 Feb 1
• 35 citations
  Neuroimaging findings in infantile Pompe patients treated with enzyme replacement therapy.
  Paul McIntosh, Lisa D. Hobson-Webb, Zoheb B. Kazi, Sean N. Prater, Suhrad G. Banugaria, Stephanie Austin, Raymond Y. Wang, David S. Enterline, Donald P. Frush, Priya S...> ;Molecular Genetics and Metabolism. 2016 Feb 1
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