A.Identifying data:
`
`Name:
`Ethnicity:
`Citizenship:
`Licensure:
`
`B.Academic History:
`
`Undergraduate:
`
`Graduate:
`
`Honors and Awards:
`
`Curriculum Vitae
`
`Date: 1/6/17
`
`Gregory Mark Enns, M.B., Ch.B.
`Caucasian
`United States of America
`California #A52095
`Hawaii #MD12592
`United Kingdom #3469202
`
`B.A., Biology: May, 1984
`Pomona College
`Pomona, CA
`August, 1980–May, 1984
`
`Diploma, Medical Science: June, 1987
`University of St. Andrews
`St. Andrews, Scotland
`September, 1985–June, 1987
`
`M.B., Ch.B.: June, 1990
`University of Glasgow
`Glasgow, Scotland
`September, 1987–June, 1990
`
`Kellogg Foundation Scholarship, UC Davis, 1984
`P.T. Herring Memorial Prize in Histology, University of St.
`Andrews, 1986
`First Class Merit Certificates: Anatomy, Physiology,
`Biochemistry, General Pathology, Microbiology, and
`Pharmacology, University of St. Andrews, 1985-87
`Neil Arnott Memorial Prize in Clinical Physics, University of
`Glasgow, 1988
`University of Glasgow Clinical Travel Grant, for clinical studies in
`China and Nepal, 1988
`C.H.L.A. Board of Directors Award for outstanding service as
`Pediatric Chief Resident, 1995
`U.C.S.F. Liver Center Pilot/Feasibility Grant for Hepatic Gene
`Therapy Research, 1998
`Pete and Arline Harman Scholarship, 2005
`
`Page 1 of 68
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`Horizon Exhibit 2007
`Par v. Horizon
`IPR2017-01768
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`Stanford University School of Medicine Honor Roll for Teaching,
`2005-2006
`Distinguished Service Citation, American Academy of Pediatrics,
`2011
`Outstanding Service Citation, United Mitochondrial Disease
`Foundation, 2011
`Stanford University School of Medicine Excellence in Teaching
`Citation, 2011–2012
`PCARES Rose Award, Lucile Packard Children’s Hospital, 2015
`
`Post-Graduate Training: Junior House Officer, Pediatric Surgery
`Royal Hospital for Sick Children, Yorkhill
`Glasgow, Scotland
`August, 1990–January, 1991
`
`Junior House Officer, General Medicine
`Glasgow Royal Infirmary
`Glasgow, Scotland
`January, 1991–June, 1991
`
`Intern and Resident, Pediatrics
`Children’s Hospital of Los Angeles
`Los Angeles, California
`June, 1991–June, 1994
`
`Chief Resident, Pediatrics
`Children’s Hospital of Los Angeles
`Los Angeles, California
`June, 1994–June, 1995
`
`Fellow, Medical Genetics
`University of California, San Francisco
`San Francisco, California
`June, 1995 – June, 1998
`
`Board Certification:
`
`American Board of Pediatrics (10/12/94, 6/14/01, 11/06/08)
`American Board of Medical Genetics, Diplomate, Clinical Genetics
`(9/1/99, 1/1/10)
`American Board of Medical Genetics, Diplomate, Clinical
`Biochemical Genetics (9/1/99, 1/1/10)
`ECFMG 0-447-053-0
`
`Page 2 of 68
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`

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`Research/Contract
`Support:
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`3.18 CM
`RP103-MITO-001 (Enns) 10/08/14–09/30/16
`$254,794
`Raptor Pharmaceuticals
`An Open-label, Dose-Escalating Study to Assess the Safety,
`Tolerability and Efficacy of Cysteamin Bitratrate Delayed-release
`capsules (RP103) for the Treatment of Children with Inherited
`Mitochondrial Disease
`This is an open-label study focusing on the safety and preliminary
`efficacy of cysteamine bitatartrate to treat patients with Leigh
`syndrome and other inherited mitochondrial disorders.
`
`1.66 CM
`RP103-MITO-002 (Enns) 07/20/15–05/31/17
`$359,162
`Raptor Pharmaceuticals
`A Long-Term Open-Label Extension Study of RP103-MITO-001 to
`Assess the Safety, Tolerability and Efficacy of Cysteamine
`Bitratrate Delayed-release capsules (RP103) for the Treatment of
`Children with Inherited Mitochondrial Disease
`This is an extension study for the RP103 protocol, a study using
`cysteamine bitartrate to treat patients with Leigh syndrome and
`other inherited mitochondrial disorders.
`
`12/09/13 – 11/3016
`
`0.56 CM
`IND#107,401 (Enns)
`$224,765
`Edison Pharmaceuticals
`Long-Term Safety and Efficacy Evaluation of EPI-743 in Children
`with Leigh Syndrome
`This is a long-term follow-up study to the Phase 2B randomized
`clinical trial in Leigh syndrome, the first randomized trial using a
`novel redox-modulating agent to treat mitochondrial disease.
`
`0.12 CM
`08/20/10–04/14/16
`EPI743 (Enns)
`Emergency Use Protocol for EPI-743 in Acutely Ill Patients with
`Inherited Mitochondrial Respiratory Chain Disease Within 90
`Days of End-of-life Care
`This is an emergency treatment protocol for mitochondrial disease
`patients using a novel redox-modulating agent.
`
`04/01/15 – 03/31/16
`SPO117002 (Enns)
`National Institutes of Health
`Lumina Diagnostics, Inc.
`Breath Ammonia Monitoring Device for Children with Urea Cycle
`Disorders
`The goal of this project is to develop a novel breath sensor to
`measure ammonia in patients with urea cycle disorders.
`
`0.24 CM
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`Page 3 of 68
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`
`0.60 CM
`1R01DK1028201A1 (Peltz) 01/01/15–12/31/17
`$382,029
`National Institutes of Health
`Stem Cell-Based In vivo Models of Human Genetic Liver Diseases
`The goal of this grant is to generate murine models of genetic liver
`diseases, including polymerase gamma deficiency and Alagille
`syndrome, using stem cell techniques to generate “humanized” liver
`tissue.
`
`0.12 CM
`Data and Website (Enns) 07/01/09–06/30/16
`$63,885
`Genzyme Corporation
`Gaucher, Fabry, MPS 1 and other Genetically Based Metabolic
`Disorders
`This is a longitudinal registry program for lysosomal storage
`disorders.
`
`0.60 CM
`05/31/13–03/31/17
`LAL-CL02 (Enns)
`$406,690
`Synageva BioPharma Corp.
`A Multicenter, Randomized, Placebo-Controlled Study of SBC-102
`in Patients with Lysosomal Acid Lipase Deficiency.
`This is a clinical trial using a novel enzyme replacement therapy to
`treat LAL deficiency.
`
`GOS (Enns)
`09/16/11–08/31/18
`Shire Human Genetics Therapies, Inc.
`Gaucher Disease Outcome Survey (GOS)
`This is a longitudinal registry program for Gaucher Disease.
`
`0.12 CM
`$126,201
`
`0.01 CM
`NIH 14-GG006326 (Enns) 09/01/13–08/31/18
`North American Mitochondrial Disease Consortium $580
`This is a registry program for mitochondrial disease patients.
`
`0.12 CM
`Foundation Grant (Enns) 06/01/14–03/31/16
`$45,873
`Austin Memorial Foundation
`A cell-based method for screening mitochondrial disease
`therapies.
`This study focuses on the use of spectromicroscopy and tandem
`mass spectrometry to study fibroblasts obtained from
`mitochondrial disease patients.
`
`C.Employment History:
`
`Academic Appointments: Clinical Instructor, Pediatrics
`University of Southern California
`June, 1994–June, 1995
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`Page 4 of 68
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`Administrative
`Appointments:
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`Clinical Instructor, Pediatrics
`University of California, San Francisco
`July, 1998–present
`
`Assistant Professor of Pediatrics
`Stanford University
`October, 1998–October, 2006
`
`Associate Professor of Pediatrics
`Stanford University
`November, 2006–May, 2015
`
`Professor of Pediatrics
`Stanford University
`June, 2015–present
`
`Director, Biochemical Genetics Program
`Stanford University School of Medicine
`October, 1998–present
`
`Scientific Advisory Board, Genotyping Core
`Stanford University School of Medicine
`May, 2000–June, 2001
`
`Co–Director, UCSF/Stanford Lysosomal Disease Center
`Stanford University Medical Center
`July, 2000–present
`
`Director, Metabolic Special Care Center
`Lucile Salter Packard Children’s Hospital
`June, 2001–present
`
`Medical Consultant, Newborn Screening Area Service Center
`Stanford University Medical Center
`June 2003–present
`
`Program Director, Medical Genetics Residency Training Program
`Stanford University School of Medicine
`September, 2007–April, 2013
`
`Associate Program Director, Medical Genetics Residency Training
`Program
`Stanford University School of Medicine
`May, 2013–April, 2014
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`Page 5 of 68
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`Hospital/Clinic
`Privileges:
`
`Division of Emergency Medicine, C.H.L.A., CA, 1995
`Queen’s Medical Center, Honolulu, HI, 2003–2011
`University of California, San Francisco, CA, 1998–present
`Stanford University Hospital, CA, 1998–present
`Lucile Salter Packard Children’s Hospital, CA, 1998–present
`El Camino Hospital, Mountain View, CA, 2002–present
`Kapiolani Children’s Hospital, Honolulu, HI, 2003–present
`
`D.Public and Professional Service:
`
`Committees:
`
`Children’s Hospital of Los Angeles –
`Residency Restructuring Committee, 1994–1995
`Healthcare Economics Committee, 1994–1995
`Intern Selection Committee, 1994–1995
`Ethics Committee, 1994–1995
`Medical Records Committee, 1994–1995
`
`Lucile Salter Packard Children’s Hospital –
`Peer Review Committee, 5/01–2/04
`Care Improvement Committee, 6/01–9/10
`Chair, Medical Specialties Peer Review Committee, 2/04–
`9/10
`Pediatric Research Center Steering Committee, 1/05–6/05
`Child Health Research Program Subcommittee on Mentoring
`and Tutoring, 7/05–10/07
`Pediatric Research Fund Grant Review Committee – 11/29/10,
`3/25/15, 5/11/15
`
`Stanford University Hospital –
`Biochemical Laboratory Director Search Committee, 6/01–
`1/02
`Pediatric Laboratory Oversight Committee, 2/02–7/06
`Institutional Review Board, Panel 4 10/02–9/06
`OB/GYN Maternal Fetal Medicine UTL Search Committee,
`12/03–2/05
`Molecular Pathology Education Committee, 2/05–present
`
`State of California –
`Advisory Board, Health Resources and Services Administration,
`California Tandem Mass Spectrometry Research Project, California
`Department of Health Services, 5/02–7/05
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`Page 6 of 68
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`Consultant, Expanded Newborn Screening Using MS/MS Financial,
`Ethical, Legal and Social Issues (FELSI) Project, California
`Department of Health Services, 1/04–7/06
`Newborn Screening Metabolic Disorders Guidelines Committee,
`California Department of Health Services, 7/06–present
`Chair, Newborn Screening Metabolic Disorders Guidelines
`Committee, California Department of Health Services, 3/09–present
`
`State of Hawaii –
`Steering Committee, Hawaii Department of Health Regional
`Genetics Collaborative Network Project in Newborn Screening,
`1/04–present
`
`National Organizations –
`U.S. Department of Health and Human Services, Interfacing MS/MS
`Outcome Information into Newborn Screening Systems panel
`meeting, Baltimore, MD 6/18/01
`United Mitochondrial Disease Foundation Registry Design Team
`9/01/02–8/30/04
`Rare Disease Steering Committee (RDSC) of the National Disease
`Research Interchange (NDRI), 12/02–12/04
`NIH National Institute of Child Health and Human Development
`Mental Retardation Research Subcommittee 6/16/03–6/15/04
`American College of Medical Genetics Committee for the
`Development of Clinical Practice Guidelines for the Evaluation of
`Hypotonia 3/01/04–2/28/05
`NIH National Institute of Child Health and Human Development
`Special Emphasis Panel: Disorders of Mitochondrial Energy
`Metabolism 7/29/04
`March of Dimes, Expanded Newborn Screening Educational
`Outreach Taskforce 10/5/04–7/15/05
`Fellow, American Academy of Pediatrics 4/1/05–present
`American Academy of Pediatrics Committee on Genetics 7/1/05–
`6/30/11
`Rare Diseases Clinical Research Network (RDCRN) Protocol Review
`Committee, Department of Health & Human Services, NIH 3/10/06–
`3/09/07
`Society for Inherited Metabolic Disorders North American Metabolic
`Academy, 3/26/07–9/27/08
`United Mitochondrial Disease Foundation Grant Review Committee,
`8/07–6/11
`NIH Therapeutic Approaches to Genetic Diseases Study Section
`(TAG) 5/1/2010
`NIH National Institute of Neurological Disorders and Stroke Protocol
`Review Committee 7/9/10–7/8/11
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`Page 7 of 68
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`NIH National Institute of Child Health and Human Development
`Best Pharmaceuticals for Children Act Program Evaluator 7/1/10–
`6/30/11
`United Mitochondrial Disease Foundation Research Policy Review
`Committee, 10/14/10–present
`Association of Public Health Laboratories Newborn Screening
`Meeting Planning Committee, 11/30/10–10/15/11
`United Mitochondrial Disease Foundation “Mitochondrial
`Champion”, 3/10/11–present
`United Mitochondrial Disease Foundation Symposium Steering
`Committee, 11/30/11–present
`United Mitochondrial Disease Foundation Clinical Research
`Committee, 1/4/13–present
`Mitochondrial Medicine Society, Program Chair, 5/29/12–6/13/13
`National Organization for Rare Disorders (NORD) Scientific and
`Medical Advisory Committee, 7/18/12–present
`NIH National Human Genome Research Institute Special Emphasis
`Panel ZHG1 HGR-M (J1), 11/27/13
`American Society of Human Genetics Program Committee, 12/18/13–
`10/22/16
`American College of Medical Genetics ClinGen Workgroup, 6/24/14 –
`present
`
`Board of Directors –
`Society for Inherited Metabolic Disorders, 3/27/07–3/09/14
`
`Data Safety Monitoring Board Membership –
`BioMarin Pharmaceutical Inc.: PKU 003, “A Phase 3, Randomized,
`Double-Blind, Placebo-Controlled Study to Evaluate the Safety and
`Efficacy of Phenoptin in Subjects with Phenylketonuria.” 12/16/05–
`2/15/06
`
`University of Florida: “Phase 3 trial of coenzyme Q10 in mitochondrial
`diseases.” 11/6/06–7/30/10
`
`BioMarin Pharmaceutical Inc.: PAL 001, “A Phase 1, Open-Label,
`Dose-Escalation Study to Evaluate the Safety, Tolerability, and
`Pharmacokinetics of Single, Subcutaneous Doses of rAvPAL-PEG in
`Subjects with Phenylketonuria.”2/20/08–3/31/09
`
`BioMarin Pharmaceutical Inc.: MOR-004, “A Phase 3, Randomized,
`Double Blind, Placebo-Controlled, Multinational Clinical Study to
`Evaluate the Efficacy and Safety of 2.0 mg/kg/week and 2.0
`mg/kg/every other week BMN 11 in Patients with
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`Page 8 of 68
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`Mucopolysaccharidosis IVA (Morquio A syndrome).” 12/17/10–
`1/25/13
`
`BioMarin Pharmaceutical Inc.: A Phase 3 Switchover Study of the
`Efficacy and Safety of BMN 701 (GILT-tagged Recombinant Human
`GAA) and Long-Term Study for Extended Treatment in rhBAA
`Exposed Subjects with Late-Onset Pompe Disease. 4/9/14–present
`
`Data Safety Monitoring Board Chair –
`
`BioMarin Pharmaceutical Inc.: PAL-002, “A Phase 2, Open-Label,
`Dose-Finding Study to Evaluate the Safety, Efficacy, and Tolerability
`of Multiple Subcutaneous Doses of rAvPAL-PEG in Subjects with
`PKU.” 10/29/10–9/28/11
`
`BioMarin Pharmaceutical Inc.: PAL 003, “Long-term Extension of a
`Phase 2, Open-Label, Dose-Finding Study to Evaluate the Safety,
`Efficacy, and Tolerability of Multiple Subcutaneous Doses of rAvPAL-
`PEG in Subjects with PKU.”10/29/10–9/28/11
`
`BioMarin Pharmaceutical Inc.: PAL 004, “A Phase 2, Open-Label
`Study to Evaluate the Safety, Tolerability, and Efficacy of 4
`Subcutaneous Dose Levels of rAvPAL-PEG Administered Daily in
`Subjects with Phenylketonuria.”10/29/10–9/28/11
`
`Amicus Therapeutics: AT2220-010, An Open-Label, Multi-Center
`Study to Investigate Drug-Drug Interactions Between AT2220
`(duvoglustat hydrochloride) and Alglucosidase Alfa in Patients with
`Pompe Disease. 11/23/11–3/21/13
`
`BioMarin Pharmaceutical Inc.: 165-301,302 A Three-Part,
`Randomized, Double Blind, Placebo Controlled, Four-Arm,
`Discontinuation Study to Evaluate the Efficacy and Safety of
`Subcutaneous Injections of BMN 165 Self-Administered by Adults
`with Phenylketonuria. 7/12/13–present
`
`Ultragenyx Pharmaceutical: UX007-CL201 Phase 2 Study of
`Triheptanoin in Fatty Acid Oxidation Disorders. 3/24/14–present
`
`Ultragenyx Pharmaceutical: UX003-CL201 An Open-Label Phase 1/2
`Study to Assess the Safety, Efficacy and Dose of UX003 rhGUS
`Enzyme Replacement Therapy in Patients with MPS 7. 4/30/14–
`1/6/17
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`Page 9 of 68
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`Scientific Advisory Board Membership–
`Familial Dysautonomia Hope Foundation 4/05–present
`United Mitochondrial Disease Foundation 3/07–6/11
`Hyperion Therapeutics 9/07–6/15
`Medical & Scientific Advisory Committee of the SSADH Association,
`12/12–present
`
`Organizations Formed: The Stanford University Mitochondrial Interest Group
`(“MitoGroup”), 2/04
`The Bay Area Mitochondria Association, 6/04 (established in
`conjunction with Bertram Lubin, MD and Bruce Ames, MD,
`Children’s Hospital Oakland Research Institute, CA)
`
`Other Public Service:
`
`Muscular Dystrophy Association, Website “Mitochondrial Chat”
`session 8/23/04
`
`Journal peer review:
`(editorial board) –
`
`(ad hoc) –
`
`Molecular Genetics and Metabolism (10/05–12/13)
`Journal of Inherited Metabolic Disease (8/11–present)
`Molecular Genetics and Metabolism Reports (12/13–present)
`Journal of Inborn Errors of Metabolism and Screening (1/15 –
`present)
`
`Acta Paediatrica
`American Journal of Hematology
`American Journal of Medical Genetics
`American Journal of Medicine
`Application of Clinical Genetics
`Archives of Disease of Childhood
`Biochimica et Biophysica Acta
`Biochimica et Biophysica Acta – Molecular Cell Research
`BMC Pediatrics
`Brain
`Clinical Genetics
`Clinical Nutrition
`Developmental Medicine & Child Neurology
`EMBO Molecular Medicine
`European Journal of Obstetrics & Gynecology
`and Reproductive Biology
`Expert Opinion on Orphan Drugs
`Expert Opinion on Pharmacotherapy
`FASEB Journal
`Future Medicine
`Gene
`Genetics in Medicine
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`Page 10 of 68
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`Human Gene Therapy
`Human Genetics
`Human Mutation
`JAMA Neurology
`Journal of Adolescent Health
`Journal of Genetic Counseling
`Journal of Hepatology
`Journal of Inherited Metabolic Disease
`Journal of Inherited Metabolic Disease Reports
`Journal of Medical Genetics
`Journal of Neurodevelopmental Disorders
`Journal of Neurology
`Journal of Neuroscience Research
`Journal of Pediatric Gastroenterology and Nutrition
`Journal of Pediatrics
`Lancet Neurology
`Mitochondrion
`Molecular Genetics and Metabolism
`Molecular Genetics and Metabolism Reports
`Muscle & Nerve
`Nanotechnology
`Nature Clinical Practice Neurology
`Nature Communications
`Neonatology
`NeoReviews
`Neurology
`Neuropediatrics
`Neurotherapeutics
`New England Journal of Medicine
`Orphanet Journal of Rare Diseases
`Pediatric Pulmonology
`Pediatric Research
`Pediatric Transplantation
`Pediatrics
`PLoS Genetics
`PLoS ONE
`Therapeutics and Clinical Risk Management
`Transplantation
`Ultrastructural Pathology
`
`Other peer review:
`(ad hoc) –
`
`GeneReviews at GeneTests
`National Organization for Rare Disorders
`Oxford University Press
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`Page 11 of 68
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`E.Memberships in Professional Associations and Learned Societies:
`
`General Medical Council, U.K., 1991–present
`American Academy of Pediatrics, 1994–2016
`American Society of Human Genetics, 1997–present
`Western Society for Pediatric Research, 1998–present
`United Mitochondrial Disease Foundation, 1999–present
`The Mitochondrial Interest Group, 2000–present
`The Mitochondrial Medicine Society, 2000–present
`Society for the Study of Inborn Errors of Metabolism, 2000–present
`Society for Inherited Metabolic Disorders, 2000–present
`American Association for the Advancement of Science, 2000–present
`American Academy of Pediatrics, Section on Genetics and Birth
`Defects, 2005–2011
`Bay Area Mitochondrial Association, 2004–present
`
`F. Scholarly Publications:
`
`Peer-Reviewed Articles (90):
`
`1. Warburton D, Buckley S, Cosico S, Enns GM, Saluna T. Combined effects of
`corticosteroids, thyroid hormones, and beta–agonist receptor binding in fetal lamb
`lung. Pediatr Res 24:166–170, 1988.
`
`2.
`
`3.
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`4.
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`5.
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`6.
`
`Enns GM, Cox VA, Goldstein RB, Gibbs DL, Harrison MR, Golabi M. Congenital
`diaphragmatic defects and associated syndromes, malformations, and chromosome
`anomalies: A retrospective study of 60 patients and literature review. Am J Med
`Genet 79:215–222, 1998.
`
`Ewart-Toland A, Enns GM, Cox VA, Chandra Mohun G, Golabi M. Severe congenital
`anomalies requiring transplantation in children with Kabuki syndrome. Am J Med
`Genet 80:362–367, 1998.
`
`Enns GM, Barkovich AJ, Weisiger K, Ohnstad C, Packman S. Progressive
`neurological deterioration and MRI changes in cblC methylmalonic acidaemia treated
`with hydroxocobalamin. J Inherit Metab Dis 22:599–607, 1999.
`
`Enns GM, Roeder E, Chan RT, Ali-Catts Z, Cox V, Golabi M. Cyclophosphamide
`(Cytoxan) embryopathy: A distinct phenotype? Am J Med Genet 86:237–241, 1999.
`
`Enns GM, Martinez DR, Kuzmin AI, Koch R, Wakeem C, Woo SLC, Eisensmith RC,
`Packman S. Molecular correlations in phenylketonuria: Mutation patterns and
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`corresponding biochemical and clinical phenotypes in a heterogeneous California
`population. Pediatr Res 46:594–602, 1999.
`
`7.
`
`Enns GM, Bennett MJ, Hoppel C, Weisiger C, Ohnstad C, Golabi M, Packman S.
`Mitochondrial respiratory chain complex I deficiency presenting with clinical and
`biochemical features of long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD)
`deficiency. J Pediatr 136(2):251–254, 2000.
`
`8. Westphal V, Enns GM, McCracken M, Freeze H. Functional analysis of two new
`mutations in a congenital disorder of glycosylation (CDG) Ia patient with mixed
`Asian ancestry. Mol Genet Metab 73(1):71–76, 2001.
`
`9.
`
`Enns GM, Seppala R, Musci TJ, Weisiger K, Ferrell LD, Wenger DA, Gahl WA,
`Packman S. Clinical course and biochemistry of sialuria. J Inherit Metab Dis
`24(3):328–336, 2001.
`
`10. Hintz S, Matern D, Strauss A, Bennett MJ, Hoyme HE, Schelley S, Kobori J, Colby C,
`Lehman NL, Enns GM. Early neonatal presentation of long-chain 3-hydroxyacyl-
`CoA dehydrogenase and mitochondrial trifunctional protein deficiencies. Mol Genet
`Metab 75(2):120–127, 2002.
`
`11. Enns GM, Steiner RD, Buist N, Cowan C, Leppig KA, McCracken MF, Westphal V,
`Freeze HH, O’Brien J, Jaeken J, Matthijs G, Behera S, Hudgins L. Clinical and
`molecular features of congenital disorder of glycosylation in patients with diverse
`ethnic origins and a type 1 sialotransferrin pattern. J Pediatr 141(5):695–700, 2002.
`
`12. Newell JW, Seo N-S, Enns GM, McCracken M, Mantovani JF, Freeze HH.
`Congenital diosrder of glycosylation Ic in patients of Indian origin. Mol Genet Metab
`79(3):221– 228, 2003.
`
`13. Adam MP, Manning MA, Beck AE, Kwan A, Enns GM, Clericuzio C, Hoyme HE.
`Methotrexate/misoprostol embryopathy: report of four cases resulting from failed
`medical abortion. Am J Med Genet 123A(1):72–78, 2003
`
`14. Wong L-J C, Perng C-L, Hsu C-H, Bai R-K, Schelley S, Vladutiu GD, Vogel H, Enns
`GM. Compensatory amplification of mitochondrial DNA in a mitochondrial DNA
`deletion syndrome with a novel deletion/duplication and high mutant load. J Med
`Genet 40(11):e125, 2003.
`
`15. Enns GM, Barkovich AJ, van Kuilenberg ABP, Manning M, Sanger T, Witt D, van
`Gennip AH. Head imaging abnormalities in dihydropyrimidine dehydrogenase
`deficiency. J Inherit Metab Dis 27(4):513–22, 2004.
`
`16. Chen KC, Cherry AM, Hahn JS, Enns GM. Mild developmental delay in terminal
`chromosome 6p deletion. Am J Med Genet 129A(2):201–5, 2004.
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`Page 13 of 68
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`17. Manning MA, Cassidy SB, Clericuzio C, Cherry AM, Schwartz S, Hudgins L, Enns
`GM, Hoyme HE. Terminal 22q deletion syndrome: a newly recognized cause of speech
`and language disability in the autistic spectrum. Pediatrics 114(2):451–7, 2004.
`
`18. Currier SC, Lee CK, Chang BS, Bodell AL, Pai GS, Job L, lagae LG, Al-Gazali LI,
`Eyaid WM, Enns GM, Dobyns WB, Walsh CA. Mutations in POMT1 are found in a
`minority of patients with Walker–Warburg syndrome. Am J Med Genet 133A(1):53–
`57, 2005.
`
`19. Nagarajan S, Enns GM, Millan MT, Winter S, Sarwal MM. Management of
`methylmalonic acidemia by combined liver–kidney transplantation. J Inherit Metab
`Dis 28(4):517–524, 2005.
`
`20. Enns GM, O’Brien WE, Kobayashi K, Shinzawa H, Pelligrino JE. Postpartum
`“psychosis”
`in mild argininosuccinate synthetase deficiency. Obstet Gynecol
`105(5):1244–1246, 2005.
`
`21.
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`van Kuilenberg ABP, Meinsma R, Beke E, Bobba B, Boffi P, Enns GM, Witt DR,
`Dobritzsch D. Identification of three novel mutations in the dihydropyrimidine
`dehydrogenase gene associated with altered pre–mRNA splicing or protein function.
`Biol Chem 386(4):319–324, 2005.
`
`22. Enns GM, Hoppel CL, DeArmond S, Schelley S, Bass N, Weisiger K, Horoupian D,
`and Packman S. The relationship of mitochondrial dysfunction to the pathogenesis of
`fiber type abnormalities in skeletal muscle. Clin Genet 68(4):337-348, 2005.
`
`23. Gallagher RC, Cowan TM, Goodman SI, Enns GM. Glutaryl-CoA dehydrogenase
`deficiency and newborn screening: retrospective analysis of a low excretor provides
`further evidence that some cases may be missed. Mol Genet Metab 86(3):417–420,
`2005.
`
`24. Enns GM, Bai RK, Beck AE, Wong LJ. Molecular–clinical correlations in a family
`with variable tissue mitochondrial DNA T8993G mutant load. Mol Genet Metab
`88(4):364–371, 2006.
`
`25. Abdul-Rahman OA, Trang HL, Kwan A, Schlaubitz S, Barsh GS, Enns GM, Hudgins
`L. Genitopatellar syndrome: expanding the phenotype and excluding mutations in
`LMX1B and TBX4. Am J Med Genet 140(14):1567–1572, 2006.
`
`26.
`
`Shieh JTC, Swidler P, Martignetti JA, Ramirez MCM, Balboni I, Kaplan J, Kennedy
`J, Abdul-Rahman O, Enns GM, Sandborg C, Hoyme HEH. Systemic hyalinosis: a
`distinctive early–onset childhood disorder characterized by mutations in the anthrax
`receptor 2 gene (ANTRX2). Pediatrics 118(5):e1485–92, 2006.
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`27. Veeravagu A, Hou LC, Hsu AR, Enns GM, Huhn SL. Glutaric acidemia type I: a
`neurosurgical perspective. J Neurosurg 107(2):167-172, 2007.
`
`28. Enns GM, Berry SA, Berry GT, Rhead WT, Brusilow SW, Hamosh A. Survival after
`treatment with phenylacetate and benzoate for urea–cycle disorders. New Engl J
`Med 356(22):2282–92, 2007.
`
`29. Dimmock DP, Zhang Q, Dionisi-Vicci C, Carrozzo R, Shieh J, Tanag LY, Truong C,
`Schmitt E, Sifry-Platt M, Lucioli S, Santorelli FM, Ficicioglu CH, Rodriguez M,
`Wierenga K, Enns GM, Longo N, Lipson MH, Vallance H, Craigen WJ, Scaglia F,
`Wong LJ. Clinical and molecular features of mitochondrial DNA depletion due to
`mutations in deoxyguanosine kinase. Hum Mutat – Mutation in Brief #990 (2007)
`Online.
`
`30. Cheyette BNR, Cheyette SNR, Cusmano-Ozog, K Enns GM. Dopa–responsive
`dystonia presenting as delayed and awkward gait. Pediatr Neurol 38(4):273–275,
`2008.
`
`31. Longo N, Schrijver I, Vogel H, Pique LM, Cowan TM, Pasquali M, Hedlund GL, Ernst
`SL, Gallagher RC, Enns GM. Progressive cerebral vascular degeneration with
`mitochondrial encephalomyopathy. Am J Med Genet Part A 146A:361–7, 2008.
`
`32. Yuan N, El-Sayed YY, Ruoss SJ, Riley E, Enns GM, Robinson TE. Successful
`pregnancy and Cesarean delivery via non–invasive positive pressure ventilation in a
`patient with mitochondrial thymidine kinase 2 deficiency. J Perinatol 29(2):166-167,
`2009.
`
`33. A novel homozygous SCO2 mutation, G193S, causing fatal infantile cardio-
`encephalomyopathy. Mobley BC, Enns GM, Wong LJ, Vogel H. Clin Neuropathol
`28(2):143-149, 2009.
`
`34. Miousse IR, Watkins D, Lavallée J, Coelho D, Clarke JTR, Crombez EA, Vilain E,
`Cederbaum S, Bernstein JA, Cowan T, Enns GM, Fowler B, Rosenblatt DS. Clinical
`and genetic findings in patients with the cblD inborn error of cobalamin metabolism.
`J Pediatr 154(4):551–556, 2009.
`
`35.
`
`Scharfe C, Lu HH-S, Neuenberg JK, Allen E, Klopstock T, Cowan TM, Enns GM,
`Davis RW. Mapping gene associations in human mitochondria using clinical disease
`phenotypes. PLoS Comput Biol 5(4):e1000374, 2009.
`
`36. Atkuri KR, Cowan TM, Kwan T, Ng A, Herzenberg LA, Herzenberg LA, Enns GM.
`Inherited disorders affecting mitochondrial function are associated with glutathione
`deficiency and hypocitrullinemia. Proc Natl Acad Sci USA 106(10):3941–3945, 2009.
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`Page 15 of 68
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`37.
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`Shieh JTC, Berquist WE, Zhang Q, Chou PC, Wong LJC, Enns GM. Novel
`deoxyguanosine kinase gene mutations and viral infection predispose apparently
`healthy children to fulminant liver failure. J Pediatr Gastroenterol Nut 49(1):130–
`132, 2009.
`
`38. Abdul–Rahman OA, Edghill EL, Kwan A, Enns GM, Hattersley AT. Hypoplastic
`glomerulocystic kidney disease and hepatoblastoma: a potential association not
`caused by mutations in hepatocyte nuclear factor 1β. J Pediatr Hematol Oncol
`31(7):527–529, 2009.
`
`39.
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`40.
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`41.
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`42.
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`43.
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`Stevenson T, Millan MT, Berquist WE, Wayman K, Sarwal M, Esquivel CO, Enns
`GM. Long–term outcome following pediatric liver transplantation for metabolic
`disorders. Pediatr Transpl 14(2):268–275, 2010.
`
`Enns GM, Koch R, Brumm V, Blakely E, Suter R, Jurecki E. Suboptimal outcomes in
`patients with PKU treated early with diet alone: revisiting the evidence. Mol Genet
`Metab 101(2-3):99–109, 2010.
`
`Casper RC, Gilles A, Fleisher BE, Baran J, DeBattista A, Enns GM, Lazzeroni LC.
`Length of prenatal exposure to selective serotonin reuptake inhibitors (SSRI)
`Antidepressants: effects on neonatal adaptation and psychomotor development.
`Psychopharmacology (Berl) 217(2):211-9, 2011.
`
`Shen P, Wang W, Krishnakumar S, Palm C, Chi AK, Enns GM, Davis RW, Speed
`TP, Mindrinos M, Scharfe C. High quality DNA sequence capture of 524 disease
`candidate genes. Proc Natl Acad Sci USA 108(16):6549–54, 2011.
`
`Shrader WE, Amagata A, Barnes A, Enns GM, Hinman A, Jankowski O, Kheifets V,
`Komatsuzaki R, Lee E, Mollard P, Murase K, Sadun AA, Thoolen M, Wesson K,
`Miller G. α-Tocotrienol quinone modulates oxidative stress response and the
`biochemistry of aging. Bioorg Med Chem Lett 21(12):3693–8, 2011.
`
`44. Cox R, Platt J, Chen LC, Tang S, Wong LJ, Enns GM. Leigh syndrome caused by a
`novel m.4296G>A mutation in mitochondrial tRNA isoleucine. Mitochondrion
`12(2):258–61, 2012.
`
`45.
`
`Seaver LH, He XY, Abe K, Cowan T, Enns GM, Sweetman L, Philipp M, Lee S,
`Malik M, Yang SY. A novel mutation in the HSD17B10 gene of a 10-year-old boy with
`refractory epilepxy, choreoathetosis and learning disability. PLoS One 6(11):e27348,
`2011.
`
`46. Campeau PM, Kim JC, Lu JT, Schwartzentruber JA, Abdul-Rahman O, Schlaubitz S,
`Murdock D, Jiang MM, Lammer E, Enns GM, Rhead WJ, Rowland J, Robertson S,
`Cormier-Daire V, Yang XJ, Gingras MC, Gibbs RA, Rosenblatt DS, Majewski J, Lee
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`Page 16 of 68
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`BH. Mutations in MYST4, encoding a histone acetyltransferase, cause genitopatellar
`syndrome. Am J Hum Genet 90(2):282–289, 2012.
`
`47. Enns GM, Kinsman SL, Perlman SL, Spicer KM, Abdenur JE, Cohen BH, Amagata
`A, Barnes A, Kheifets V, Shrader WD, Thoolen M, Blankenberg F, Miller G. Initial
`experience in the treatment of inherited mitochondrial disease with EPI-743. Mol
`Genet Metab 105(1):91-102, 2012.
`
`48. Wilnai Y, Seaver LH, Enns GM. Atypical amyoplasia congenita in an infant with
`Leigh syndrome: a mitochondrial cause of severe contractures? In Am J Med Genet A
`158A(9):2353–7, 2012.
`
`49. Arnold GL, Salazar D, Neidich JA, Suwannarat P, Graham BH, Lichter-Konecki U,
`Bosch AM, Cusmano-Ozog K, Enns GM, Lanpher BC, Owen NN, Lipson MH, Cerone
`R, Levy P, Wong LJ, Dezsofi A. Outcome of infants diagnosed with 3-methyl-crotonyl-
`CoA-carboxylase deficiency by newborn screening. Mol Genet Metab 106(4):439–41,
`2012.
`
`50. Blankenberg F, Kinsman SL, Cohen BH, Goris ML, Spicer KM, Perlman SL, Krane
`EJ, Kheifets V, Thoolen M, Miller G, Enns GM. Brain uptake of Tc99m-HMPAO
`SPECT correlates with clinical response to the novel redox modulating agent EPI-743
`in patients with mitochondrial disease. Mol Genet Metab 107(4):690–9, 2012.
`
`51. Kim I, Niemi AK, Krueger C, Bonham A, Concepcion W, Cowan T, Enns GM,
`Esquivel C. Liver transplantation for urea cycle disorders in pediatric patients: a
`single center experience. Pediatr Transpl 17(2):158-67, 2013.
`
`52. Balwani M, Breen C, Enns GM, Deegan P, Honzik T, Jones S, Kane J, Malinova V,
`Sharma R, Stock E, Valayannopoulos V, Wraith JE, Burg J, Eckert S, Schneider S,
`Quinn A. Clinical effect and safety profile of recombinant human lysosomal acid
`lipase in patients with cholesteryl ester storage disease. Hepatol 58(3):950–7, 2013.
`
`53. Cui H, Li F, Chen D, Wang G, Truong CK, Enns GM, Graham B, Milone M,
`Landsverk ML, Wany J, Zhang W, Wong LJ. Comprehensive next-generation
`sequence analyses of the entire mitochondrial genome reveal new insights into the
`molecular diagnosis of mitochondrial DNA disorders. Genet Med 15(5):388-94, 2013.
`
`54. Moore T, Le A, Niemi AK, Kwan T, Cusmano-Ozog K, Enns GM, Cowan TM. A new
`LC-MS/MS method for the clinical determination of reduced and oxidized glutathione
`from whole blood. J Chromatogr B 929:51-55, 2013.
`
`55. Manoli I, Sysol JR, Li L, Houillier P, Garone C, Wang C, Zerfas P, Cusmano-Ozog K,
`Young S, Trivedi NS, Cheng J, Sloan JL, Chandler RJ, Abu-Asab M, Tsokos M,
`Elkahloun AG, Rosen S, Enns GM, Berry GT, Hoffman V, DiMauro S, Schnermann
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`J, Venditti C. Targeting proximal tubule mitochondrial dysfunction attenuates the
`renal disease of methylmalonic acidemia. Proc Natl Acad Sci 110(33):13552–7, 2013.
`
`56. Parikh S, Goldstein A, Koenig MK, Scaglia F, Enns GM, Saneto R. Practice patterns
`of mitochondrial disease physicians in North America, Part 1: diagnosis and care
`chal