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Clinical utility of comprehensive gene panel testing for common and rare causes of skeletal dysplasia and other skeletal disorders: Results from the largest cohort to date.
MacCarrick G, Aradhya S, Bailey M, Chu D, Hunt A, Izzo E, Krakow D, Mackenzie W, Poll S, Raggio C, Shediac R, White KK, McLaughlin HM, Seratti G. MacCarrick G, et al. Am J Med Genet A. 2024 Sep;194(9):e63646. doi: 10.1002/ajmg.a.63646. Epub 2024 May 3. Am J Med Genet A. 2024. PMID: 38702915
Neuronal ceroid lipofuscinosis type 2: an Australian case series.
Johnson AM, Mandelstam S, Andrews I, Boysen K, Yaplito-Lee J, Fietz M, Nagarajan L, Rodriguez-Casero V, Ryan MM, Smith N, Scheffer IE, Ellaway C. Johnson AM, et al. J Paediatr Child Health. 2020 Aug;56(8):1210-1218. doi: 10.1111/jpc.14890. Epub 2020 Apr 24. J Paediatr Child Health. 2020. PMID: 32329550 Free PMC article.
Pharmacokinetic, pharmacodynamic, and immunogenic rationale for optimal dosing of pegvaliase, a PEGylated bacterial enzyme, in adult patients with phenylketonuria.
Qi Y, Patel G, Henshaw J, Gupta S, Olbertz J, Larimore K, Harding CO, Merilainen M, Zori R, Longo N, Burton BK, Li M, Gu Z, Zoog SJ, Weng HH, Schweighardt B. Qi Y, et al. Clin Transl Sci. 2021 Sep;14(5):1894-1905. doi: 10.1111/cts.13043. Epub 2021 May 31. Clin Transl Sci. 2021. PMID: 34057292 Free PMC article. Clinical Trial.
Real-World Rates of Bleeding, Factor VIII Use, and Quality of Life in Individuals with Severe Haemophilia A Receiving Prophylaxis in a Prospective, Noninterventional Study.
Kenet G, Chen YC, Lowe G, Percy C, Tran H, von Drygalski A, Trossaërt M, Reding M, Oldenburg J, Mingot-Castellano ME, Park YS, Peyvandi F, Ozelo MC, Mahlangu J, Quinn J, Huang M, Reddy DB, Kim B. Kenet G, et al. J Clin Med. 2021 Dec 18;10(24):5959. doi: 10.3390/jcm10245959. J Clin Med. 2021. PMID: 34945255 Free PMC article.