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Sialic acid catabolism by N-acetylneuraminate pyruvate lyase is essential for muscle function.
Wen XY, Tarailo-Graovac M, Brand-Arzamendi K, Willems A, Rakic B, Huijben K, Da Silva A, Pan X, El-Rass S, Ng R, Selby K, Philip AM, Yun J, Ye XC, Ross CJ, Lehman AM, Zijlstra F, Abu Bakar N, Drögemöller B, Moreland J, Wasserman WW, Vallance H, van Scherpenzeel M, Karbassi F, Hoskings M, Engelke U, de Brouwer A, Wevers RA, Pshezhetsky AV, van Karnebeek CD, Lefeber DJ. Wen XY, et al. Among authors: willems a. JCI Insight. 2018 Dec 20;3(24):e122373. doi: 10.1172/jci.insight.122373. JCI Insight. 2018. PMID: 30568043 Free PMC article.
Aspartylglycosamine is a biomarker for NGLY1-CDDG, a congenital disorder of deglycosylation.
Haijes HA, de Sain-van der Velden MGM, Prinsen HCMT, Willems AP, van der Ham M, Gerrits J, Couse MH, Friedman JM, van Karnebeek CDM, Selby KA, van Hasselt PM, Verhoeven-Duif NM, Jans JJM. Haijes HA, et al. Among authors: willems ap. Mol Genet Metab. 2019 Aug;127(4):368-372. doi: 10.1016/j.ymgme.2019.07.001. Epub 2019 Jul 9. Mol Genet Metab. 2019. PMID: 31311714
Dynamic tracing of sugar metabolism reveals the mechanisms of action of synthetic sugar analogs.
van Scherpenzeel M, Conte F, Büll C, Ashikov A, Hermans E, Willems A, van Tol W, Kragt E, Noga M, Moret EE, Heise T, Langereis JD, Rossing E, Zimmermann M, Rubio-Gozalbo ME, de Jonge MI, Adema GJ, Zamboni N, Boltje T, Lefeber DJ. van Scherpenzeel M, et al. Among authors: willems a. Glycobiology. 2022 Mar 30;32(3):239-250. doi: 10.1093/glycob/cwab106. Glycobiology. 2022. PMID: 34939087 Free PMC article.
A one-year pilot study comparing direct-infusion high resolution mass spectrometry based untargeted metabolomics to targeted diagnostic screening for inherited metabolic diseases.
Willems AP, van der Ham M, Schiebergen-Bronkhorst BGM, van Aalderen M, de Barse MMJ, De Gruyter FE, van Hoek IN, Pras-Raves ML, de Sain-van der Velden MGM, Prinsen HCMT, Verhoeven-Duif NM, Jans JJM. Willems AP, et al. Front Mol Biosci. 2023 Nov 2;10:1283083. doi: 10.3389/fmolb.2023.1283083. eCollection 2023. Front Mol Biosci. 2023. PMID: 38028537 Free PMC article.
UPLC-Orbitrap-HRMS application for analysis of plasma sterols.
van der Ham M, Gerrits J, Prinsen B, van Hasselt P, Fuchs S, Jans J, Willems A, de Sain-van der Velden M. van der Ham M, et al. Among authors: willems a. Anal Chim Acta. 2024 Apr 1;1296:342347. doi: 10.1016/j.aca.2024.342347. Epub 2024 Feb 6. Anal Chim Acta. 2024. PMID: 38401937 Free article.
Toxic epidermal necrolysis: A rare and life-threatening condition.
Chan OB, Willems A, Simpson K, Gopinathan LP, Robertson SJ, Mahar P. Chan OB, et al. Among authors: willems a. Aust J Gen Pract. 2024 Mar;53(3):138-140. doi: 10.31128/AJGP-05-23-6831. Aust J Gen Pract. 2024. PMID: 38437657 Free article. No abstract available.
488 results