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DNA methylation episignature for Witteveen-Kolk syndrome due to SIN3Ahaploinsufficiency

Autor: Coenen-van der Spek, Jet, Relator, Raissa, Kerkhof, Jennifer, McConkey, Haley, Levy, Michael A., Tedder, Matthew L., Louie, Raymond J., Fletcher, Robin S., Moore, Hannah W., Childers, Anna, Farrelly, Ellyn R., Champaigne, Neena L., Lyons, Michael J., Everman, David B., Rogers, R. Curtis, Skinner, Steven A., Renck, Alicia, Matalon, Dena R., Dills, Shelley K., Monteleone, Berrin, Demirdas, Serwet, Dingemans, Alexander J.M., Donker Kaat, Laura, Kolk, Sharon M., Pfundt, Rolph, Rump, Patrick, Sadikovic, Bekim, Kleefstra, Tjitske, Butler, Kameryn M.

Publikováno v: Genetics in Medicine; January 2023, Vol. 25 Issue: 1 p63-75, 13p

Recent tPA administration can cause pseudo-hyperargininemia and may mimic arginase deficiency or arginine supplementation.

Autor: Cusmano-Ozog KP; Department of Pathology Stanford University Stanford California USA., Renck AK; Division of Medical Genetics Stanford University Stanford California USA., Tise CG; Division of Medical Genetics Stanford University Stanford California USA.

Publikováno v: JIMD reports [JIMD Rep] 2022 Oct 13; Vol. 63 (6), pp. 563-567. Date of Electronic Publication: 2022 Oct 13 (Print Publication: 2022).