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Quantitation of plasma and urine 3-hydroxyglutaric acid, after separation from 2-hydroxyglutaric acid and other compounds of similar ion transition, by liquid chromatography-tandem mass spectrometry for the confirmation of glutaric aciduria type 1.
Simon GA, Wierenga A. Simon GA, et al. Among authors: wierenga a. J Chromatogr B Analyt Technol Biomed Life Sci. 2018 Oct 15;1097-1098:101-110. doi: 10.1016/j.jchromb.2018.09.007. Epub 2018 Sep 5. J Chromatogr B Analyt Technol Biomed Life Sci. 2018. PMID: 30218917
Arginine:glycine amidinotransferase (AGAT) deficiency: Clinical features and long term outcomes in 16 patients diagnosed worldwide.
Stockler-Ipsiroglu S, Apatean D, Battini R, DeBrosse S, Dessoffy K, Edvardson S, Eichler F, Johnston K, Koeller DM, Nouioua S, Tazir M, Verma A, Dowling MD, Wierenga KJ, Wierenga AM, Zhang V, Wong LJ. Stockler-Ipsiroglu S, et al. Among authors: wierenga kj, wierenga am. Mol Genet Metab. 2015 Dec;116(4):252-9. doi: 10.1016/j.ymgme.2015.10.003. Epub 2015 Oct 17. Mol Genet Metab. 2015. PMID: 26490222 Free article.
Cystatin C in children on chronic hemodialysis.
Marsenic O, Wierenga A, Wilson DR, Anderson M, Shrivastava T, Simon GA, Beck AM, Swanson TJ, Studnicka K, Elberg D, Couloures K, Turman MA. Marsenic O, et al. Among authors: wierenga a. Pediatr Nephrol. 2013 Apr;28(4):647-53. doi: 10.1007/s00467-012-2366-7. Epub 2012 Nov 21. Pediatr Nephrol. 2013. PMID: 23179198
MBTPS1-Related Spondyloepimetaphyseal Dysplasia with Elevated Lysosomal Enzymes.
Wang H, Wierenga A, Prabhu S, Wierenga K. Wang H, et al. Among authors: wierenga a. 2023 Nov 30. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2023 Nov 30. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 38048414 Free Books & Documents. Review.
72 results