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Page 1
Newborn Screening for Pompe Disease: Pennsylvania Experience.
Ficicioglu C, Ahrens-Nicklas RC, Barch J, Cuddapah SR, DiBoscio BS, DiPerna JC, Gordon PL, Henderson N, Menello C, Luongo N, Ortiz D, Xiao R. Ficicioglu C, et al. Among authors: gordon pl. Int J Neonatal Screen. 2020 Nov 13;6(4):89. doi: 10.3390/ijns6040089. Int J Neonatal Screen. 2020. PMID: 33202836 Free PMC article.
Long-term safety and efficacy of sapropterin: the PKUDOS registry experience.
Longo N, Arnold GL, Pridjian G, Enns GM, Ficicioglu C, Parker S, Cohen-Pfeffer JL; Phenylketonuria Demographics, Outcomes and Safety Registry. Longo N, et al. Mol Genet Metab. 2015 Apr;114(4):557-63. doi: 10.1016/j.ymgme.2015.02.003. Epub 2015 Feb 16. Mol Genet Metab. 2015. PMID: 25724073 Free article.
Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling.
Holtz AM, VanCoillie R, Vansickle EA, Carere DA, Withrow K, Torti E, Juusola J, Millan F, Person R, Guillen Sacoto MJ, Si Y, Wentzensen IM, Pugh J, Vasileiou G, Rieger M, Reis A, Argilli E, Sherr EH, Aldinger KA, Dobyns WB, Brunet T, Hoefele J, Wagner M, Haber B, Kotzaeridou U, Keren B, Heron D, Mignot C, Heide S, Courtin T, Buratti J, Murugasen S, Donald KA, O'Heir E, Moody S, Kim KH, Burton BK, Yoon G, Campo MD, Masser-Frye D, Kozenko M, Parkinson C, Sell SL, Gordon PL, Prokop JW, Karaa A, Bupp C, Raby BA. Holtz AM, et al. Among authors: gordon pl. Genet Med. 2022 Oct;24(10):2065-2078. doi: 10.1016/j.gim.2022.07.005. Epub 2022 Aug 18. Genet Med. 2022. PMID: 35980381 Free PMC article.
Frailty and stroke thrombectomy outcomes-an observational cohort study.
Joyce N, Atkinson T, Mc Guire K, Wiggam MI, Gordon PL, Kerr EL, Patterson CE, McILmoyle J, Roberts GE, Flynn PA, Burns P, Rennie IR, Taylor Rowan M, Quinn TJ, Fearon P. Joyce N, et al. Among authors: gordon pl. Age Ageing. 2022 Feb 2;51(2):afab260. doi: 10.1093/ageing/afab260. Age Ageing. 2022. PMID: 35150584 Free article.
44 results