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An update on clinical presentation and responses to therapy of patients with hereditary hypophosphatemic rickets with hypercalciuria (HHRH).
Zhu Z, Bo-Ran Ho B, Chen A, Amrhein J, Apetrei A, Carpenter TO, Lazaretti-Castro M, Colazo JM, McCrystal Dahir K, Geßner M, Gurevich E, Heier CA, Simmons JH, Hunley TE, Hoppe B, Jacobsen C, Kouri A, Ma N, Majumdar S, Molin A, Nokoff N, Ott SM, Peña HG, Santos F, Tebben P, Topor LS, Deng Y, Bergwitz C. Zhu Z, et al. Among authors: carpenter to. Kidney Int. 2024 May;105(5):1058-1076. doi: 10.1016/j.kint.2024.01.031. Epub 2024 Feb 15. Kidney Int. 2024. PMID: 38364990
Genetic variants in the vitamin D pathway and their association with vitamin D metabolite levels: Detailed studies of an inner-city pediatric population suggest a modest but significant effect in early childhood.
Fu L, Wong BYL, Li Z, Horst RL, Williams R, Lee B, Miller J, Carpenter TO, Cole DEC. Fu L, et al. Among authors: carpenter to. J Steroid Biochem Mol Biol. 2023 Oct;233:106369. doi: 10.1016/j.jsbmb.2023.106369. Epub 2023 Jul 23. J Steroid Biochem Mol Biol. 2023. PMID: 37490983
Klotho Overexpression Is Frequently Associated With Upstream Rearrangements in Fusion-Negative Phosphaturic Mesenchymal Tumors of Bone and Sinonasal Tract.
Lee JC, Hsieh TH, Kao YC, Tsai CF, Huang HY, Shih CY, Song HL, Oda Y, Chih-Hsueh Chen P, Pan CC, Sittampalam K, Petersson F, Konishi E, Chiu WY, Chen CF, Carpenter TO, Lu TP, Chang CD, Huang SC, Folpe AL. Lee JC, et al. Among authors: carpenter to. Mod Pathol. 2023 Dec;36(12):100336. doi: 10.1016/j.modpat.2023.100336. Epub 2023 Sep 22. Mod Pathol. 2023. PMID: 37742927
Excluding Digenic Inheritance of PGAP2 and PGAP3 Variants in Mabry Syndrome (OMIM 239300) Patient: Phenotypic Spectrum Associated with PGAP2 Gene Variants in Hyperphosphatasia with Mental Retardation Syndrome-3 (HPMRS3).
Thompson MD, Li X, Spencer-Manzon M, Andrade DM, Murakami Y, Kinoshita T, Carpenter TO. Thompson MD, et al. Among authors: carpenter to. Genes (Basel). 2023 Jan 30;14(2):359. doi: 10.3390/genes14020359. Genes (Basel). 2023. PMID: 36833286 Free PMC article.
154 results