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Neutrophils in Barth syndrome (BTHS) avidly bind annexin-V in the absence of apoptosis.
Kuijpers TW, Maianski NA, Tool AT, Becker K, Plecko B, Valianpour F, Wanders RJ, Pereira R, Van Hove J, Verhoeven AJ, Roos D, Baas F, Barth PG. Kuijpers TW, et al. Among authors: wanders rj. Blood. 2004 May 15;103(10):3915-23. doi: 10.1182/blood-2003-11-3940. Epub 2004 Feb 5. Blood. 2004. PMID: 14764526 Free article.
Barth syndrome: an X-linked cause of fetal cardiomyopathy and stillbirth.
Steward CG, Newbury-Ecob RA, Hastings R, Smithson SF, Tsai-Goodman B, Quarrell OW, Kulik W, Wanders R, Pennock M, Williams M, Cresswell JL, Gonzalez IL, Brennan P. Steward CG, et al. Prenat Diagn. 2010 Oct;30(10):970-6. doi: 10.1002/pd.2599. Prenat Diagn. 2010. PMID: 20812380 Free PMC article.
Blunted fat oxidation upon submaximal exercise is partially compensated by enhanced glucose metabolism in children, adolescents, and young adults with Barth syndrome.
Cade WT, Bohnert KL, Peterson LR, Patterson BW, Bittel AJ, Okunade AL, de Las Fuentes L, Steger-May K, Bashir A, Schweitzer GG, Chacko SK, Wanders RJ, Pacak CA, Byrne BJ, Reeds DN. Cade WT, et al. Among authors: wanders rj. J Inherit Metab Dis. 2019 May;42(3):480-493. doi: 10.1002/jimd.12094. Epub 2019 Apr 11. J Inherit Metab Dis. 2019. PMID: 30924938 Free PMC article.
Clinical, biochemical, and genetic spectrum of MADD in a South African cohort: an ICGNMD study.
Bisschoff M, Smuts I, Dercksen M, Schoonen M, Vorster BC, van der Watt G, Spencer C, Naidu K, Henning F, Meldau S, McFarland R, Taylor RW, Patel K, Fassad MR, Vandrovcova J; ICGNMD Consortium; Wanders RJA, van der Westhuizen FH. Bisschoff M, et al. Among authors: wanders rja. Orphanet J Rare Dis. 2024 Jan 14;19(1):15. doi: 10.1186/s13023-023-03014-8. Orphanet J Rare Dis. 2024. PMID: 38221620 Free PMC article.
Discovery of novel diagnostic biomarkers for Sjögren-Larsson syndrome by untargeted lipidomics.
Vaz FM, Staps P, van Klinken JB, van Lenthe H, Vervaart M, Wanders RJA, Pras-Raves ML, van Weeghel M, Salomons GS, Ferdinandusse S, Wevers RA, Willemsen MAAP. Vaz FM, et al. Among authors: wanders rja. Biochim Biophys Acta Mol Cell Biol Lipids. 2024 Mar;1869(2):159447. doi: 10.1016/j.bbalip.2023.159447. Epub 2024 Jan 3. Biochim Biophys Acta Mol Cell Biol Lipids. 2024. PMID: 38181883 Free article.
Vision on gyrate atrophy: why treat the eye?
Bergen AA, Buijs MJ, Ten Asbroek AL, Balfoort BM, Boon CJ; Dutch GACR “Bird’s Eye View” Consortium; Brands MM, Wanders RJ, van Karnebeek CD, Houtkooper RH. Bergen AA, et al. Among authors: wanders rj. EMBO Mol Med. 2024 Jan;16(1):4-7. doi: 10.1038/s44321-023-00001-1. Epub 2023 Dec 14. EMBO Mol Med. 2024. PMID: 38177529 Free PMC article.
Abnormal activation of MAPKs pathways and inhibition of autophagy in a group of patients with Zellweger spectrum disorders and X-linked adrenoleukodystrophy.
Gragnaniello V, Gueraldi D, Puma A, Commone A, Cazzorla C, Loro C, Porcù E, Stornaiuolo M, Miglioranza P, Salviati L, Wanders RJA, Burlina A. Gragnaniello V, et al. Among authors: wanders rja. Orphanet J Rare Dis. 2023 Nov 16;18(1):358. doi: 10.1186/s13023-023-02940-x. Orphanet J Rare Dis. 2023. PMID: 37974207 Free PMC article.
The malate-aspartate shuttle is important for de novo serine biosynthesis.
Broeks MH, Meijer NWF, Westland D, Bosma M, Gerrits J, German HM, Ciapaite J, van Karnebeek CDM, Wanders RJA, Zwartkruis FJT, Verhoeven-Duif NM, Jans JJM. Broeks MH, et al. Among authors: wanders rja. Cell Rep. 2023 Sep 26;42(9):113043. doi: 10.1016/j.celrep.2023.113043. Epub 2023 Aug 30. Cell Rep. 2023. PMID: 37647199 Free article.
1,020 results