Gregory Enns
Academic Appointments
- Associate Professor - Med Center Line, Pediatrics - Medical Genetics
- Member, Child Health Research Institute
Key Documents
Contact Information
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Clinical Offices
Pediatric Genetics 730 Welch Road, 2nd Floor Palo Alto, CA 94304 Tel Work (650) 721-5804 Fax (650) 498-4555Practices at Stanford Hospital and Clinics and Lucile Packard Children's Hospital
- Academic Offices
Personal Information Email Tel (650) 498-5798 Tel (650) 723-6858Not for medical emergencies or patient use
Professional Overview
Clinical Focus
- Clinical Genetics
- Biochemical Genetics
- Mitochondrial Diseases
Professional Education
| Board Certification: | Clinical Genetics, American Board of Medical Genetics (1999) |
| Board Certification: | Clinical Biochemical Genetics, American Board of Medical Genetics (1999) |
| Fellowship: | UCSF Medical Center CA (1998) |
| Residency: | Children's Hospital of Los Angeles CA (1995) |
| Board Certification: | General Pediatrics, American Board of Pediatrics (1994) |
| Internship: | Children's Hospital Los Angeles CA (1992) |
Graduate & Fellowship Program Affiliations
Industry Relationships
Stanford is committed to ethical and transparent interactions with our industrial and other commercial partners. It is our policy to disclose payments (exclusive of travel support) from, and/or equity in, companies or other commercial entities to Stanford faculty of $5,000 or more in total value, as well as any equity in a privately held company, when the faculty member also has institutional responsibilities related to his or her interactions with the company. View Full Information
Scientific Focus
Current Research Interests
Research interests include novel means of diagnosing and treating mitochondrial disorders, with an emphasis on antioxidant therapy, lysosomal disorders, and newborn screening by tandem mass spectrometry. Current pursuits include the analysis of glutathione and antioxidant status in patients who have mitochondrial disorders and the development of new techniques for diagnosing these conditions.
Publications
- Brain uptake of Tc99m-HMPAO correlates with clinical response to the novel redox modulating agent EPI-743 in patients with mitochondrial disease. Mol Genet Metab. 2012; (4): 690-9
- Initial experience in the treatment of inherited mitochondrial disease with EPI-743. Mol Genet Metab. 2012; (1): 91-102
- Leigh syndrome caused by a novel m.4296G>A mutation in mitochondrial tRNA isoleucine. Mitochondrion. 2012; (2): 258-61
- High-quality DNA sequence capture of 524 disease candidate genes. Proc Natl Acad Sci U S A. 2011; (16): 6549-54
- Inherited disorders affecting mitochondrial function are associated with glutathione deficiency and hypocitrullinemia. Proc Natl Acad Sci U S A. 2009; (10): 3941-5
- Mapping gene associations in human mitochondria using clinical disease phenotypes. PLoS Comput Biol. 2009; (4): e1000374
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