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Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia.
Vaz FM, McDermott JH, Alders M, Wortmann SB, Kölker S, Pras-Raves ML, Vervaart MAT, van Lenthe H, Luyf ACM, Elfrink HL, Metcalfe K, Cuvertino S, Clayton PE, Yarwood R, Lowe MP, Lovell S, Rogers RC; Deciphering Developmental Disorders Study, van Kampen AHC, Ruiter JPN, Wanders RJA, Ferdinandusse S, van Weeghel M, Engelen M, Banka S. Vaz FM, et al. Among authors: elfrink hl. Brain. 2019 Nov 1;142(11):3382-3397. doi: 10.1093/brain/awz291. Brain. 2019. PMID: 31637422 Free PMC article.
Metabolomics and lipidomics in Caenorhabditis elegans using a single-sample preparation.
Molenaars M, Schomakers BV, Elfrink HL, Gao AW, Vervaart MAT, Pras-Raves ML, Luyf AC, Smith RL, Sterken MG, Kammenga JE, van Kampen AHC, Janssens GE, Vaz FM, van Weeghel M, Houtkooper RH. Molenaars M, et al. Among authors: elfrink hl. Dis Model Mech. 2021 Apr 1;14(4):dmm047746. doi: 10.1242/dmm.047746. Epub 2021 Apr 27. Dis Model Mech. 2021. PMID: 33653825 Free PMC article.
Nicotinamide riboside supplementation alters body composition and skeletal muscle acetylcarnitine concentrations in healthy obese humans.
Remie CME, Roumans KHM, Moonen MPB, Connell NJ, Havekes B, Mevenkamp J, Lindeboom L, de Wit VHW, van de Weijer T, Aarts SABM, Lutgens E, Schomakers BV, Elfrink HL, Zapata-Pérez R, Houtkooper RH, Auwerx J, Hoeks J, Schrauwen-Hinderling VB, Phielix E, Schrauwen P. Remie CME, et al. Among authors: elfrink hl. Am J Clin Nutr. 2020 Aug 1;112(2):413-426. doi: 10.1093/ajcn/nqaa072. Am J Clin Nutr. 2020. PMID: 32320006 Free PMC article. Clinical Trial.
The Galactose Index measured in fibroblasts of GALT deficient patients distinguishes variant patients detected by newborn screening from patients with classical phenotypes.
Welsink-Karssies MM, van Weeghel M, Hollak CEM, Elfrink HL, Janssen MCH, Lai K, Langendonk JG, Oussoren E, Ruiter JPN, Treacy EP, de Vries M, Ferdinandusse S, Bosch AM. Welsink-Karssies MM, et al. Among authors: elfrink hl. Mol Genet Metab. 2020 Mar;129(3):171-176. doi: 10.1016/j.ymgme.2020.01.002. Epub 2020 Jan 9. Mol Genet Metab. 2020. PMID: 31954591 Free article.
Ribosomal protein gene RPL9 variants can differentially impair ribosome function and cellular metabolism.
Lezzerini M, Penzo M, O'Donohue MF, Marques Dos Santos Vieira C, Saby M, Elfrink HL, Diets IJ, Hesse AM, Couté Y, Gastou M, Nin-Velez A, Nikkels PGJ, Olson AN, Zonneveld-Huijssoon E, Jongmans MCJ, Zhang G, van Weeghel M, Houtkooper RH, Wlodarski MW, Kuiper RP, Bierings MB, van der Werff Ten Bosch J, Leblanc T, Montanaro L, Dinman JD, Da Costa L, Gleizes PE, MacInnes AW. Lezzerini M, et al. Among authors: elfrink hl. Nucleic Acids Res. 2020 Jan 24;48(2):770-787. doi: 10.1093/nar/gkz1042. Nucleic Acids Res. 2020. PMID: 31799629 Free PMC article.