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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
- Newborn Screening for X-Linked Adrenoleukodystrophy (X-ALD): Biochemical, Molecular, and Clinical Characteristics of Other Genetic Conditions.Carlos F Mares Beltran, Christina G Tise, Rebekah Barrick, Annie D Niehaus, Rebecca Sponberg
Genes. 2024-06-26 - 5 citationsEfficacy and safety of pegzilarginase in arginase 1 deficiency (PEACE): a phase 3, randomized, double-blind, placebo-controlled, multi-centre trial.Rossana Sanchez Russo, Serena Gasperini, Gillian Bubb, Linda Neuman, Leslie S Sloan
Eclinicalmedicine. 2024-02-01 - Specifications of the ACMG/AMP guidelines for ACADVL variant interpretation.May Flowers, Alexa Dickson, Marcus J Miller, Elaine Spector, Gregory Mark Enns
Molecular Genetics and Metabolism. 2023-11-01
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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