C
Cary O. Harding
Researcher at Oregon Health & Science University
Publications - 132
Citations - 4758
Cary O. Harding is an academic researcher from Oregon Health & Science University. The author has contributed to research in topics: Phenylalanine hydroxylase & Glycerol phenylbutyrate. The author has an hindex of 38, co-authored 124 publications receiving 4134 citations. Previous affiliations of Cary O. Harding include University of Washington & University of Portland.
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Journal ArticleDOI
Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early-onset clinical phenotypes associated with isolated COX deficiency
Hana Antonicka,Scot C. Leary,Guy Hellen Guercin,Jeffrey N. Agar,Rita Horvath,Nancy G. Kennaway,Cary O. Harding,Michaela Jaksch,Eric A. Shoubridge +8 more
TL;DR: It is shown that mutations in this gene can cause nearly the full range of clinical phenotypes associated with early onset isolated COX deficiency, including anemia, sensorineural deafness and fatal infantile hypertrophic cardiomyopathy.
Journal ArticleDOI
Phenylketonuria Scientific Review Conference: state of the science and future research needs.
Kathryn M. Camp,Melissa A. Parisi,Phyllis B. Acosta,Gerard T. Berry,Deborah A. Bilder,Nenad Blau,Nenad Blau,Olaf Bodamer,Jeffrey P. Brosco,Christine Brown,Alberto Burlina,Barbara K. Burton,Christine Chang,Paul M. Coates,Amy Cunningham,Steven F. Dobrowolski,John H. Ferguson,Thomas D. Franklin,Dianne M. Frazier,Dorothy K. Grange,Carol L. Greene,Stephen C. Groft,Cary O. Harding,R. Rodney Howell,Kathleen Huntington,Henrietta D. Hyatt-Knorr,Indira Jevaji,Harvey L. Levy,Uta Lichter-Konecki,Mary Lou Lindegren,Michele A. Lloyd-Puryear,Kimberlee Michals Matalon,Anita MacDonald,Melissa L McPheeters,John J. Mitchell,Shideh Mofidi,Kathryn D. Moseley,Christine M. Mueller,Andrew E. Mulberg,Lata S. Nerurkar,Beth N. Ogata,Anne R. Pariser,Suyash Prasad,Gabriella Pridjian,Sonja A. Rasmussen,Uma M. Reddy,Frances Rohr,Rani H. Singh,Sandra Sirrs,Stephanie E. Stremer,Danilo A. Tagle,Susan Thompson,Tiina K. Urv,Jeanine Utz,Francjan J. van Spronsen,Jerry Vockley,Susan E. Waisbren,Linda S. Weglicki,Desirée A. White,Chester B. Whitley,Benjamin S. Wilfond,Steven Yannicelli,Justin M. Young +62 more
TL;DR: A coordinated approach to PKU treatment improves long-term outcomes for those with PKU and facilitates the conduct of research to improve diagnosis and treatment, and there are significant gaps in predicting response to treatment.
Journal ArticleDOI
Age-Related Accumulation of Somatic Mitochondrial DNA Mutations in Adult-Derived Human iPSCs
Eunju Kang,Eunju Kang,Xinjian Wang,Rebecca Tippner-Hedges,Rebecca Tippner-Hedges,Hong Ma,Hong Ma,Clifford D.L. Folmes,Nuria Marti Gutierrez,Nuria Marti Gutierrez,Yeon-Mi Lee,Yeon-Mi Lee,Crystal Van Dyken,Crystal Van Dyken,Riffat Ahmed,Riffat Ahmed,Ying Li,Ying Li,Amy Koski,Amy Koski,Tomonari Hayama,Tomonari Hayama,Shiyu Luo,Cary O. Harding,Paula Amato,Jeffrey T. Jensen,David Battaglia,David M. Lee,Diana Wu,Andre Terzic,Don P. Wolf,Don P. Wolf,Taosheng Huang,Shoukhrat Mitalipov +33 more
TL;DR: The frequency of mtDNA defects in iPSCs increased with age, and many mutations were non-synonymous or resided in RNA coding genes and thus can lead to respiratory defects, highlighting a need to monitor mtDNA mutations in i PSCs, especially those generated from older patients, and to examine the metabolic status of iPSC destined for clinical applications.
Journal ArticleDOI
Incidence of tuberous sclerosis in patients with cardiac rhabdomyoma.
TL;DR: After a review of reported cases and review of patients from the authors' institution diagnosed to have cardiac rhabdomyoma, it is estimated that 51-86% of cardiac rabbdomyomas are associated with tuberous sclerosis.
Journal ArticleDOI
The response of patients with phenylketonuria and elevated serum phenylalanine to treatment with oral sapropterin dihydrochloride (6R-tetrahydrobiopterin): a phase II, multicentre, open-label, screening study.
Barbara K. Burton,Barbara K. Burton,Dorothy K. Grange,Andrzej Milanowski,G. Vockley,François Feillet,Eric Crombez,V. Abadie,Cary O. Harding,Stephen D. Cederbaum,D. Dobbelaere,A. Smith,Alejandro Dorenbaum +12 more
TL;DR: Variability in reduction of Phe indicates that the response to sapropterin dihydrochloride cannot be predicted by baseline Phe level, which is well tolerated and reduced blood Phe levels across all PKU phenotypes tested.