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Diverse phenotype in patients with complex I deficiency due to mutations in NDUFB11.
Reinson K, Kovacs-Nagy R, Õiglane-Shlik E, Pajusalu S, Nõukas M, Wintjes LT, van den Brandt FCA, Brink M, Acker T, Ahting U, Hahn A, Schänzer A, Haack TB, Rodenburg RJ, Õunap K. Reinson K, et al. Among authors: brink m. Eur J Med Genet. 2019 Nov;62(11):103572. doi: 10.1016/j.ejmg.2018.11.006. Epub 2018 Nov 10. Eur J Med Genet. 2019. PMID: 30423443
Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathy.
Smits P, Saada A, Wortmann SB, Heister AJ, Brink M, Pfundt R, Miller C, Haas D, Hantschmann R, Rodenburg RJ, Smeitink JA, van den Heuvel LP. Smits P, et al. Among authors: brink m. Eur J Hum Genet. 2011 Apr;19(4):394-9. doi: 10.1038/ejhg.2010.214. Epub 2010 Dec 29. Eur J Hum Genet. 2011. PMID: 21189481 Free PMC article.
Long-term treated HIV infection is associated with platelet mitochondrial dysfunction.
van der Heijden WA, van de Wijer L, Jaeger M, Grintjes K, Netea MG, Urbanus RT, van Crevel R, van den Heuvel LP, Brink M, Rodenburg RJ, de Groot PG, van der Ven AJ, de Mast Q. van der Heijden WA, et al. Among authors: brink m. Sci Rep. 2021 Mar 18;11(1):6246. doi: 10.1038/s41598-021-85775-5. Sci Rep. 2021. PMID: 33739024 Free PMC article.
Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency--a neurometabolic disorder associated with reduced L-serine biosynthesis.
Klomp LW, de Koning TJ, Malingré HE, van Beurden EA, Brink M, Opdam FL, Duran M, Jaeken J, Pineda M, Van Maldergem L, Poll-The BT, van den Berg IE, Berger R. Klomp LW, et al. Among authors: brink m. Am J Hum Genet. 2000 Dec;67(6):1389-99. doi: 10.1086/316886. Epub 2000 Oct 27. Am J Hum Genet. 2000. PMID: 11055895 Free PMC article.
828 results