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Office
7920 Frost St
Ste 200
San Diego, CA 92123Phone+1 858-576-1700
Education & Training
- University of California (San Diego) Medical CenterResidency, Pediatrics, 1991 - 1992
- University of California (San Diego) Medical CenterResidency, Pediatrics, 1984 - 1986
- Washington University in St. Louis School of MedicineClass of 1984
Certifications & Licensure
- CA State Medical License 1986 - 2026
- American Board of Medical Genetics and Genomics Clinical Biochemical/Molecular Genetics
Clinical Trials
- Pilot Study of Safety, Tolerability, Pharmacokinetics/Pharmacodynamics of RP103 Compared to Cystagon® in Patients With Cystinosis Start of enrollment: 2009 May 01
- Treatment Protocol of Replagal for Patients With Fabry Disease
- Human Heterologous Liver Cells for Infusion in Children With Urea Cycle Disorders Start of enrollment: 2010 Dec 01
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Publications & Presentations
PubMed
- 15 citationsHead-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised p...Eric L Wallace, Ozlem Goker-Alpan, William R Wilcox, Myrl Holida, John Bernat
Journal of Medical Genetics. 2024-05-21 - 10 citationsTumor Metabolism and Neurocognition in CNS LymphomaHuimin Geng, Mazie Tsang, Lakshmipriya Subbaraj, Joseph C. Cleveland, Lingjing Chen
Neuro-Oncology. 2021-10-01 - 14 citationsDairy Fat Intake, Plasma Pentadecanoic Acid, and Plasma Iso-heptadecanoic Acid Are Inversely Associated With Liver Fat in Children.Mary Catherine Sawh, Martina Wallace, Emma Shapiro, Nidhi Goyal, Kimberly P. Newton
Journal of Pediatric Gastroenterology and Nutrition. 2021-04-01
Journal Articles
- Biallelic Loss of Human CTNNA2, Encoding αN-Catenin, Leads to ARP2/3 Complex Overactivity and Disordered Cortical Neuronal MigrationJoseph G Gleeson, Ian Miller, Bruce A Barshop, William B Dobyns, Murat Gunel, Nature
Press Mentions
- Cystinosis Research Foundation Grants Support Scientific Studies on Cell Function, New Treatments and the Quest for a CureFebruary 7th, 2017
- $5.9 Million Grant to UC San Diego for Paradigm-Shifting Diabetes ResearchFebruary 12th, 2016
- The Gift of a LifetimeSeptember 23rd, 2017
Grant Support
- Cysteamine Bitartrate Delayed-Relesease Capsules (RP103) Compared To CysteamineNational Center For Research Resources2010
- Clinical Trial: Alglucosidase Alfa Temporary Access Program (ATAP) Protocol AgluNational Center For Research Resources2010
- Clinical Trial: A Phase II Study Of PN401 Pyrimidine Responsive Syndrome Of NeurNational Center For Research Resources2008–2010
- Clinical Trial: Myozyme? Temporary Access Program (MTAP)National Center For Research Resources2009
- Clinical Trial: Extension Study - LATE Onset Pompe DiseaseNational Center For Research Resources2008–2009
- Clinical Trial: Myozyme Treatment In Patients With LATE Onset Pompe DiseaseNational Center For Research Resources2008
- Myozyme Treatment In Patients With LATE Onset Pompe DiseaseNational Center For Research Resources2007
- A Phase II Study Of PN401 Pyrimidine Responsive Syndrome Of Neurological DysfNational Center For Research Resources2006–2007
- Phase II OPEN Trial Of Dichloroacetate In Congenital Lactic AcidemiaNational Center For Research Resources2005–2006
- Leucine Metabolism And Liver TransplantationNational Center For Research Resources2005–2006
- Dichloroacetate In The Treatment Of Congenital Lactic AcidemiaNational Center For Research Resources2005
- PN401 In Patients With Pyrimidine Responsive SyndromeNational Center For Research Resources2004–2005
- Dichloroacetate In Congenital Lacic AcidemiaNational Center For Research Resources2004
- Tolerance Evaluation Of Fructo-Oligosaccharides In Fructose IntoleranceNational Center For Research Resources2000–2002
- Isotope Study Of Pyruvate Metabolism In Lactic AcidemiaNational Center For Research Resources2000–2002
- Blood Sampling From Control SubjectsNational Center For Research Resources2000–2002
- Homocysteine Metabolism In Vascular DiseaseNational Center For Research Resources1996–1997
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