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21 results

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Page 1
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: luyf acm. 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. 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.
Plasma lipidomics as a diagnostic tool for peroxisomal disorders.
Herzog K, Pras-Raves ML, Ferdinandusse S, Vervaart MAT, Luyf ACM, van Kampen AHC, Wanders RJA, Waterham HR, Vaz FM. Herzog K, et al. Among authors: luyf acm. J Inherit Metab Dis. 2018 May;41(3):489-498. doi: 10.1007/s10545-017-0114-7. Epub 2017 Dec 5. J Inherit Metab Dis. 2018. PMID: 29209936 Free PMC article.
[No title available]
[No authors listed] [No authors listed] PMID: 34424297
Defining functional classes of Barth syndrome mutation in humans.
Lu YW, Galbraith L, Herndon JD, Lu YL, Pras-Raves M, Vervaart M, Van Kampen A, Luyf A, Koehler CM, McCaffery JM, Gottlieb E, Vaz FM, Claypool SM. Lu YW, et al. Hum Mol Genet. 2016 May 1;25(9):1754-70. doi: 10.1093/hmg/ddw046. Epub 2016 Feb 16. Hum Mol Genet. 2016. PMID: 26908608 Free PMC article.
21 results