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2009 1
2010 2
2011 2
2012 5
2013 8
2014 7
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2016 5
2017 4
2018 4
2019 20
2020 11
2021 9
2022 4
2023 6
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87 results

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Page 1
Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency.
Coughlin CR 2nd, Tseng LA, Abdenur JE, Ashmore C, Boemer F, Bok LA, Boyer M, Buhas D, Clayton PT, Das A, Dekker H, Evangeliou A, Feillet F, Footitt EJ, Gospe SM Jr, Hartmann H, Kara M, Kristensen E, Lee J, Lilje R, Longo N, Lunsing RJ, Mills P, Papadopoulou MT, Pearl PL, Piazzon F, Plecko B, Saini AG, Santra S, Sjarif DR, Stockler-Ipsiroglu S, Striano P, Van Hove JLK, Verhoeven-Duif NM, Wijburg FA, Zuberi SM, van Karnebeek CDM. Coughlin CR 2nd, et al. Among authors: verhoeven duif nm. J Inherit Metab Dis. 2021 Jan;44(1):178-192. doi: 10.1002/jimd.12332. Epub 2020 Dec 1. J Inherit Metab Dis. 2021. PMID: 33200442
mTORC1 restricts TFE3 activity by auto-regulating its presence on lysosomes.
Zwakenberg S, Westland D, van Es RM, Rehmann H, Anink J, Ciapaite J, Bosma M, Stelloo E, Liv N, Sobrevals Alcaraz P, Verhoeven-Duif NM, Jans JJM, Vos HR, Aronica E, Zwartkruis FJT. Zwakenberg S, et al. Among authors: verhoeven duif nm. Mol Cell. 2024 Nov 21;84(22):4368-4384.e6. doi: 10.1016/j.molcel.2024.10.009. Epub 2024 Oct 31. Mol Cell. 2024. PMID: 39486419 Free article.
Fecal gut microbiota and amino acids as noninvasive diagnostic biomarkers of Pediatric inflammatory bowel disease.
Vermeer E, Jagt JZ, Lap EM, Struys EA, Budding AE, Verhoeven-Duif NM, Bosma M, van Limbergen JE, Koot BGP, de Jonge R, Benninga MA, Acharjee A, de Boer NKH, de Meij TGJ. Vermeer E, et al. Among authors: verhoeven duif nm. Gut Microbes. 2025 Dec;17(1):2517828. doi: 10.1080/19490976.2025.2517828. Epub 2025 Jun 12. Gut Microbes. 2025. PMID: 40503566 Free PMC article.
Metabolic Alterations in NADSYN1-Deficient Cells.
Meijer NWF, Gerrits J, Zwakenberg S, Zwartkruis FJT, Verhoeven-Duif NM, Jans JJM. Meijer NWF, et al. Among authors: verhoeven duif nm. Metabolites. 2023 Dec 12;13(12):1196. doi: 10.3390/metabo13121196. Metabolites. 2023. PMID: 38132878 Free PMC article.
Metabolomics in sickle cell disease: Current knowledge and gaps - A scoping review.
van der Veen S, Jans JJM, van Beers EJ, Biemond BJ, Bartolucci P, Boaro MP, Collado Gimbert A, Colombatti R, D'Agnolo M, Fijnvandraat KJ, Idrizovic A, Kountouris P, Mañú Pereira M, Mezzalira E, Rab MAE, Rijneveld AW, Sanavia T, Verhoeven-Duif NM, Cnossen MH. van der Veen S, et al. Among authors: verhoeven duif nm. Blood Rev. 2025 Nov;74:101338. doi: 10.1016/j.blre.2025.101338. Epub 2025 Sep 6. Blood Rev. 2025. PMID: 40945973 Free article.
Inborn disorders of the malate aspartate shuttle.
Broeks MH, van Karnebeek CDM, Wanders RJA, Jans JJM, Verhoeven-Duif NM. Broeks MH, et al. Among authors: verhoeven duif nm. J Inherit Metab Dis. 2021 Jul;44(4):792-808. doi: 10.1002/jimd.12402. Epub 2021 May 24. J Inherit Metab Dis. 2021. PMID: 33990986 Free PMC article. Review.
S-adenosylmethionine addiction confers sensitivity to methionine restriction in KMT2A-rearranged acute lymphoblastic leukemia.
Tee T, Ruiter TJJ, Wu S, Zhang W, Schenau DVI, Rodionova M, Wajon D, Vervoort BMT, Grunewald KJT, Bosma M, Hagelaar R, Baker-Hernandez J, Dahaoui A, Schneider P, Verhoeven-Duif NM, Van der Meer LT, Van Leeuwen FN. Tee T, et al. Among authors: verhoeven duif nm. Haematologica. 2025 Nov 1;110(11):2620-2634. doi: 10.3324/haematol.2023.284869. Epub 2025 Apr 24. Haematologica. 2025. PMID: 40270205 Free PMC article.
Optimising urinary catecholamine metabolite diagnostics for neuroblastoma.
Matser YAH, Verly IRN, van der Ham M, de Sain-van der Velden MGM, Verhoeven-Duif NM, Ash S, Cangemi G, Barco S, Popovic MB, van Kuilenburg ABP, Tytgat GAM; SIOPEN Catecholamine Working Group. Matser YAH, et al. Among authors: verhoeven duif nm. Pediatr Blood Cancer. 2023 Jun;70(6):e30289. doi: 10.1002/pbc.30289. Epub 2023 Apr 3. Pediatr Blood Cancer. 2023. PMID: 37010353
Inborn errors of enzymes in glutamate metabolism.
Rumping L, Vringer E, Houwen RHJ, van Hasselt PM, Jans JJM, Verhoeven-Duif NM. Rumping L, et al. Among authors: verhoeven duif nm. J Inherit Metab Dis. 2020 Mar;43(2):200-215. doi: 10.1002/jimd.12180. Epub 2019 Oct 11. J Inherit Metab Dis. 2020. PMID: 31603991 Free PMC article. Review.
87 results