Dr. Austin is on Doximity
As a Doximity member you'll join over two million verified healthcare professionals in a private, secure network.
- Connect with other colleagues in the same hospital or clinic
- Search all U.S. specialist profiles and refer a patient
- Read the latest clinical news and earn CME/CEU credits
Office
905 La Salle St
Durham, NC 27710- Is this information wrong?
Clinical Trials
- Developing a Management Approach for Patients With "Late-Onset" Pompe Disease Start of enrollment: 2019 Mar 25
Publications & Presentations
PubMed
- 12 citationsEarly-onset of symptoms and clinical course of Pompe disease associated with the c.-32–13 T > G variantMrudu Herbert, Laura E. Case, Mugdha Rairikar, Heidi Cope, Lauren A. Bailey, Stephanie Austin, Priya S. Kishnani> ;Molecular Genetics and Metabolism. 2019 Feb 1
- 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).Kishnani, P. S.,Goldstein, J.,Austin, S. L.,Arn, P.,Bachrach, B.,Bali, D. S.,Chung, W. K.,El-Gharbawy, A.,Brown, L. M.,Kahler, S.,Pendyal, S.,Ross, K. M.,Tsilianidis, ...> ;Genet. Med.. 2019 Jan 20
- 23 citationsCognitive and academic outcomes in long-term survivors of infantile-onset Pompe disease: A longitudinal follow-up.Gail A. Spiridigliozzi, Lori A. Keeling, Mihaela Stefanescu, Cindy Li, Stephanie Austin, Priya S. Kishnani> ;Molecular Genetics and Metabolism. 2017 Jun 1
- Join now to see all
Viewing the full profile is available to verified healthcare professionals only.
Find your profile and take control of your online presence: