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FGF21 outperforms GDF15 as a diagnostic biomarker of mitochondrial disease in children.
Riley LG, Nafisinia M, Menezes MJ, Nambiar R, Williams A, Barnes EH, Selvanathan A, Lichkus K, Bratkovic D, Yaplito-Lee J, Bhattacharya K, Ellaway C, Kava M, Balasubramaniam S, Christodoulou J. Riley LG, et al. Among authors: yaplito lee j. Mol Genet Metab. 2022 Jan;135(1):63-71. doi: 10.1016/j.ymgme.2021.12.001. Epub 2021 Dec 8. Mol Genet Metab. 2022. PMID: 34991945
Expanded newborn screening: outcome in screened and unscreened patients at age 6 years.
Wilcken B, Haas M, Joy P, Wiley V, Bowling F, Carpenter K, Christodoulou J, Cowley D, Ellaway C, Fletcher J, Kirk EP, Lewis B, McGill J, Peters H, Pitt J, Ranieri E, Yaplito-Lee J, Boneh A. Wilcken B, et al. Pediatrics. 2009 Aug;124(2):e241-8. doi: 10.1542/peds.2008-0586. Epub 2009 Jul 20. Pediatrics. 2009. PMID: 19620191
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.
A cryptic pathogenic NDUFV1 variant identified by RNA-seq in a patient with normal complex I activity in muscle and transient magnetic resonance imaging changes.
Kiss S, Christodoulou J, Thorburn DR, Freeman JL, Kornberg AJ, Mandelstam S, Compton AG, Cummings B, Pais L, Yaplito-Lee J, White SM. Kiss S, et al. Among authors: yaplito lee j. Am J Med Genet A. 2023 Jun;191(6):1599-1606. doi: 10.1002/ajmg.a.63170. Epub 2023 Mar 9. Am J Med Genet A. 2023. PMID: 36896486
36 results