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Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex Deficiencies.
Gardeitchik T, Mohamed M, Ruzzenente B, Karall D, Guerrero-Castillo S, Dalloyaux D, van den Brand M, van Kraaij S, van Asbeck E, Assouline Z, Rio M, de Lonlay P, Scholl-Buergi S, Wolthuis DFGJ, Hoischen A, Rodenburg RJ, Sperl W, Urban Z, Brandt U, Mayr JA, Wong S, de Brouwer APM, Nijtmans L, Munnich A, Rötig A, Wevers RA, Metodiev MD, Morava E. Gardeitchik T, et al. Among authors: wolthuis dfgj. Am J Hum Genet. 2018 Apr 5;102(4):685-695. doi: 10.1016/j.ajhg.2018.02.012. Epub 2018 Mar 22. Am J Hum Genet. 2018. PMID: 29576219 Free PMC article.
Abnormal fat distribution in PMM2-CDG.
Wolthuis DF, van Asbeck EV, Kozicz T, Morava E. Wolthuis DF, et al. Mol Genet Metab. 2013 Nov;110(3):411-3. doi: 10.1016/j.ymgme.2013.08.017. Epub 2013 Sep 7. Mol Genet Metab. 2013. PMID: 24063868
NAFLD Phenotype in Patients With V-ATPase Proton Pump Assembly Defects.
Jansen JC, Wolthuis D, Van Scherpenzeel M, Ratziu V, Drenth JPH, Lefeber DJ. Jansen JC, et al. Cell Mol Gastroenterol Hepatol. 2018 Jan 18;5(3):415-417.e1. doi: 10.1016/j.jcmgh.2017.12.011. eCollection 2018 Mar. Cell Mol Gastroenterol Hepatol. 2018. PMID: 29675453 Free PMC article. No abstract available.
Apoptosis and NET formation in the pathogenesis of SLE.
Bouts YM, Wolthuis DF, Dirkx MF, Pieterse E, Simons EM, van Boekel AM, Dieker JW, van der Vlag J. Bouts YM, et al. Autoimmunity. 2012 Dec;45(8):597-601. doi: 10.3109/08916934.2012.719953. Epub 2012 Sep 17. Autoimmunity. 2012. PMID: 22913420 Free article. Review.
Dutch Pharmacogenetics Working Group (DPWG) guideline for the gene-drug interaction between SLCO1B1 and statins and CYP2C9 and sulfonylureas.
Wolthuis DFGJ, Nijenhuis M, Soree B, de Boer-Veger NJ, Buunk AM, Guchelaar HJ, Risselada A, Rongen GAPJM, van Schaik RHN, Swen JJ, Touw DJ, van Westrhenen R, Deneer VHM, Houwink EJF. Wolthuis DFGJ, et al. Eur J Hum Genet. 2024 Dec 15. doi: 10.1038/s41431-024-01769-7. Online ahead of print. Eur J Hum Genet. 2024. PMID: 39676086 Review.
[A woman with oedema of the lower legs].
Wolthuis DFGJ, van Bon AC. Wolthuis DFGJ, et al. Ned Tijdschr Geneeskd. 2021 Jun 10;165:D5913. Ned Tijdschr Geneeskd. 2021. PMID: 34346645 Dutch.
Answer to Photoquiz A bone disorder with skin lesions.
Hendrikx L, Wolthuis DFGJ, Hassing RJ. Hendrikx L, et al. Among authors: wolthuis dfgj. Neth J Med. 2020 Dec;78(6):400. Neth J Med. 2020. PMID: 33380547 Free article. No abstract available.
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