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Untargeted metabolomics and infrared ion spectroscopy identify biomarkers for pyridoxine-dependent epilepsy.
Engelke UF, van Outersterp RE, Merx J, van Geenen FA, van Rooij A, Berden G, Huigen MC, Kluijtmans LA, Peters TM, Al-Shekaili HH, Leavitt BR, de Vrieze E, Broekman S, van Wijk E, Tseng LA, Kulkarni P, Rutjes FP, Mecinović J, Struys EA, Jansen LA, Gospe SM Jr, Mercimek-Andrews S, Hyland K, Willemsen MA, Bok LA, van Karnebeek CD, Wevers RA, Boltje TJ, Oomens J, Martens J, Coene KL. Engelke UF, et al. J Clin Invest. 2021 Aug 2;131(15):e148272. doi: 10.1172/JCI148272. J Clin Invest. 2021. PMID: 34138754 Free PMC article.
PPP3CA truncating variants clustered in the regulatory domain cause early-onset refractory epilepsy.
Panneerselvam S, Wang J, Zhu W, Dai H, Pappas JG, Rabin R, Low KJ, Rosenfeld JA, Emrick L, Xiao R, Xia F, Yang Y, Eng CM, Anderson A, Chau V, Soler-Alfonso C, Streff H, Lalani SR, Mercimek-Andrews S; Undiagnosed Diseases Network; DDD Study; Bi W. Panneerselvam S, et al. Clin Genet. 2021 Aug;100(2):227-233. doi: 10.1111/cge.13979. Epub 2021 Jun 1. Clin Genet. 2021. PMID: 33963760
Homozygous GLUL deletion is embryonically viable and leads to glutamine synthetase deficiency.
Roifman M, Niles KM, MacNeil L, Blaser S, Noor A, Godoy R, van Mieghem T, Ryan G, Seaward G, Sondheimer N, Mercimek-Andrews S, Schulze A, Hewson S, Ovadia A, Chitayat D, Morgen EK, Hojilla C, Kolomietz E, Watkins N, Häberle J, Shannon P. Roifman M, et al. Clin Genet. 2020 Dec;98(6):613-619. doi: 10.1111/cge.13844. Epub 2020 Oct 1. Clin Genet. 2020. PMID: 32888207 Free article.
Outcomes of patients with cobalamin C deficiency: A single center experience.
Bourque DK, Mellin-Sanchez LE, Bullivant G, Cruz V, Feigenbaum A, Hewson S, Raiman J, Schulze A, Siriwardena K, Mercimek-Andrews S. Bourque DK, et al. JIMD Rep. 2020 Nov 8;57(1):102-114. doi: 10.1002/jmd2.12179. eCollection 2021 Jan. JIMD Rep. 2020. PMID: 33473346 Free PMC article.
74 results