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Page 1
Congenital Hypothyroidism: Screening and Management.
Rose SR, Wassner AJ, Wintergerst KA, Yayah-Jones NH, Hopkin RJ, Chuang J, Smith JR, Abell K, LaFranchi SH; SECTION ON ENDOCRINOLOGY EXECUTIVE COMMITTEE; COUNCIL ON GENETICS EXECUTIVE COMMITTEE. Rose SR, et al. Pediatrics. 2023 Jan 1;151(1):e2022060419. doi: 10.1542/peds.2022-060419. Pediatrics. 2023. PMID: 36827523
Congenital Hypothyroidism: Screening and Management.
Rose SR, Wassner AJ, Wintergerst KA, Yayah-Jones NH, Hopkin RJ, Chuang J, Smith JR, Abell K, LaFranchi SH; SECTION ON ENDOCRINOLOGY EXECUTIVE COMMITTEE; COUNCIL ON GENETICS EXECUTIVE COMMITTEE. Rose SR, et al. Pediatrics. 2023 Jan 1;151(1):e2022060420. doi: 10.1542/peds.2022-060420. Pediatrics. 2023. PMID: 36827521
TELO2-related syndrome (You-Hoover-Fong syndrome): Description of 14 new affected individuals and review of the literature.
Albokhari D, Pritchard AB, Beil A, Muss C, Bupp C, Grange DK, Delplancq G, Heeley J, Zuteck M, Morrow MM, Kuentz P, Palculict TB, Hoover-Fong JE. Albokhari D, et al. Among authors: pritchard ab. Am J Med Genet A. 2023 May;191(5):1261-1272. doi: 10.1002/ajmg.a.63142. Epub 2023 Feb 16. Am J Med Genet A. 2023. PMID: 36797513 Free article. Review.
Ode to Fiona: The Face of Fortitude in FBXL4 Deficiency.
Pritchard AB. Pritchard AB. Am J Med Genet C Semin Med Genet. 2024 Nov;196(2-3):e32115. doi: 10.1002/ajmg.c.32115. Epub 2024 Sep 17. Am J Med Genet C Semin Med Genet. 2024. PMID: 39285751 No abstract available.
Results of the ACTION-Galactosemia Kids Study to Evaluate the Effects of Govorestat in Pediatric Patients with Classic Galactosemia.
Bailey E, Phan H, Ahmad A, Thomas J, Ames EG, Pritchard AB, Quinonez SC, Wang S, Dayley C, Salt A, Pick C, Durrant A, Johnson S, Nicodemus-Johnson J, Dickson SP, Perfetti R, Hendrix SB, Shendelman S. Bailey E, et al. Among authors: pritchard ab. J Clin Pharmacol. 2025 May;65(5):575-587. doi: 10.1002/jcph.6170. Epub 2024 Nov 21. J Clin Pharmacol. 2025. PMID: 39569553 Free PMC article. Clinical Trial.
25 results