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
- 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 - 36 citationsVariability of disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the PHKG2 geneDeeksha Bali, Jennifer L. Goldstein, Keri Fredrickson, Catherine Rehder, Anne Boney
Molecular Genetics and Metabolism. 2014-03-01 - 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
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