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Office
725 Welch Rd
Palo Alto, CA 94304Phone+1 650-497-8000
Education & Training
- University of California (San Francisco)Residency, Medical Genetics and Genomics, 1995 - 1998
- Children's Hospital Los AngelesResidency, Pediatrics, 1991 - 1995
- University of Glasgow Faculty of MedicineClass of 1990
Certifications & Licensure
- OR State Medical License 2011 - Present
- CA State Medical License 1993 - 2027
- HI State Medical License 2003 - 2026
- FL State Medical License 2012 - 2020
- American Board of Medical Genetics and Genomics Clinical Biochemical Genetics
- American Board of Medical Genetics and Genomics Clinical Genetics and Genomics
Awards, Honors, & Recognition
- Regional Top Doctor Castle Connolly, 2014
- Fellow (FAAP) American Academy of Pediatrics
Clinical Trials
- EPI-743 for Mitochondrial Respiratory Chain Diseases
- Long-term Outcome of N-Carbamylglutamate Treatment in Propionic Acidemia and Methylmalonic Acidemia Start of enrollment: 2012 Sep 01
- Short-Term Outcome of N-Carbamylglutamate in the Treatment of Acute Hyperammonemia Start of enrollment: 2012 Sep 01
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Publications & Presentations
PubMed
- 32 citationsAcylcarnitine Profiles Reflect Metabolic Vulnerability for Necrotizing Enterocolitis in Newborns Born Premature.Karl G. Sylvester, Zachary J. Kastenberg, R. Larry Moss, Gregory M. Enns, Tina M. Cowan
The Journal of Pediatrics. 2017-02-01 - 102 citationsMutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome.Philippe M. Campeau, Jaeseung C. Kim, James T. Lu, Jeremy Schwartzentruber, Omar A. Abdul-Rahman
American Journal of Human Genetics. 2012-02-10 - 131 citationsMutations in B3GALNT2 Cause Congenital Muscular Dystrophy and Hypoglycosylation of α-DystroglycanElizabeth Stevens, Keren J. Carss, Sebahattin Cirak, A. Reghan Foley, Silvia Torelli
American Journal of Human Genetics. 2013-03-07
Press Mentions
- M6P Therapeutics to Host Key Opinion Leader Webinar on Lysosomal Storage DisordersJuly 19th, 2021
- M6P Therapeutics Announces Formation of Distinguished, Experienced Scientific Advisory BoardFebruary 3rd, 2021
- The Bay Area's Top Doctors of 2019January 17th, 2019
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Professional Memberships
- Fellow
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