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Pyridox(am)ine 5'-phosphate oxidase (PNPO) deficiency in zebrafish results in fatal seizures and metabolic aberrations.
Ciapaite J, Albersen M, Savelberg SMC, Bosma M, Tessadori F, Gerrits J, Lansu N, Zwakenberg S, Bakkers JPW, Zwartkruis FJT, van Haaften G, Jans JJ, Verhoeven-Duif NM. Ciapaite J, et al. Among authors: gerrits j. Biochim Biophys Acta Mol Basis Dis. 2020 Mar 1;1866(3):165607. doi: 10.1016/j.bbadis.2019.165607. Epub 2019 Nov 21. Biochim Biophys Acta Mol Basis Dis. 2020. PMID: 31759955 Free article.
Vitamin B6 is essential for serine de novo biosynthesis.
Ramos RJ, Pras-Raves ML, Gerrits J, van der Ham M, Willemsen M, Prinsen H, Burgering B, Jans JJ, Verhoeven-Duif NM. Ramos RJ, et al. Among authors: gerrits j. J Inherit Metab Dis. 2017 Nov;40(6):883-891. doi: 10.1007/s10545-017-0061-3. Epub 2017 Aug 11. J Inherit Metab Dis. 2017. PMID: 28801717
Identification of human D lactate dehydrogenase deficiency.
Monroe GR, van Eerde AM, Tessadori F, Duran KJ, Savelberg SMC, van Alfen JC, Terhal PA, van der Crabben SN, Lichtenbelt KD, Fuchs SA, Gerrits J, van Roosmalen MJ, van Gassen KL, van Aalderen M, Koot BG, Oostendorp M, Duran M, Visser G, de Koning TJ, Calì F, Bosco P, Geleijns K, de Sain-van der Velden MGM, Knoers NV, Bakkers J, Verhoeven-Duif NM, van Haaften G, Jans JJ. Monroe GR, et al. Among authors: gerrits j. Nat Commun. 2019 Apr 1;10(1):1477. doi: 10.1038/s41467-019-09458-6. Nat Commun. 2019. PMID: 30931947 Free PMC article.
Metabolic fingerprinting reveals extensive consequences of GLS hyperactivity.
Rumping L, Pras-Raves ML, Gerrits J, Tang YF, Willemsen MA, Houwen RHJ, van Haaften G, van Hasselt PM, Verhoeven-Duif NM, Jans JJM. Rumping L, et al. Among authors: gerrits j. Biochim Biophys Acta Gen Subj. 2020 Mar;1864(3):129484. doi: 10.1016/j.bbagen.2019.129484. Epub 2019 Nov 14. Biochim Biophys Acta Gen Subj. 2020. PMID: 31734463 Free 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: gerrits j. 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
94 results