StephanieAustinMD
Medical Genetics • Durham, NCClinical Biochemical/Molecular Genetics
Genetic Counselor
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Office
905 La Salle St
Durham, NC 27710
Clinical Trials
- Developing a Management Approach for Patients With "Late-Onset" Pompe Disease Start of enrollment: 2019 Mar 25
Publications & Presentations
PubMed
- 14 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
Molecular Genetics and Metabolism. 2019-02-01 - 38 citationsNeutropenia in glycogen storage disease Ib: outcomes for patients treated with granulocyte colony-stimulating factorDavid C. Dale, Audrey Anna Bolyard, Tracy M. Marrero, Merideth L. Kelley, Vahagn Makaryan
Current Opinion in Hematology. 2019-01-01 - 27 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
Molecular Genetics and Metabolism. 2017-06-01
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