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Year Number of Results
2016 1
2017 5
2018 3
2019 5
2020 4
2021 0
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14 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: pras raves ml. Brain. 2019 Nov 1;142(11):3382-3397. doi: 10.1093/brain/awz291. Brain. 2019. PMID: 31637422 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: pras raves ml. 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.
Disturbed brain ether lipid metabolism and histology in Sjögren-Larsson syndrome.
Staps P, Rizzo WB, Vaz FM, Bugiani M, Giera M, Heijs B, van Kampen AHC, Pras-Raves ML, Breur M, Groen A, Ferdinandusse S, van der Graaf M, Van Goethem G, Lammens M, Wevers RA, Willemsen MAAP. Staps P, et al. Among authors: pras raves ml. J Inherit Metab Dis. 2020 Nov;43(6):1265-1278. doi: 10.1002/jimd.12275. Epub 2020 Jul 9. J Inherit Metab Dis. 2020. PMID: 32557630 Free PMC article.
Prediction of VLCAD deficiency phenotype by a metabolic fingerprint in newborn screening bloodspots.
Knottnerus SJG, Pras-Raves ML, van der Ham M, Ferdinandusse S, Houtkooper RH, Schielen PCJI, Visser G, Wijburg FA, de Sain-van der Velden MGM. Knottnerus SJG, et al. Among authors: pras raves ml. Biochim Biophys Acta Mol Basis Dis. 2020 Jun 1;1866(6):165725. doi: 10.1016/j.bbadis.2020.165725. Epub 2020 Feb 19. Biochim Biophys Acta Mol Basis Dis. 2020. PMID: 32061778 Free article.
Impact of newborn screening for very-long-chain acyl-CoA dehydrogenase deficiency on genetic, enzymatic, and clinical outcomes.
Bleeker JC, Kok IL, Ferdinandusse S, van der Pol WL, Cuppen I, Bosch AM, Langeveld M, Derks TGJ, Williams M, de Vries M, Mulder MF, Gozalbo ER, de Sain-van der Velden MGM, Rennings AJ, Schielen PJCI, Dekkers E, Houtkooper RH, Waterham HR, Pras-Raves ML, Wanders RJA, van Hasselt PM, Schoenmakers M, Wijburg FA, Visser G. Bleeker JC, et al. Among authors: pras raves ml. J Inherit Metab Dis. 2019 May;42(3):414-423. doi: 10.1002/jimd.12075. Epub 2019 Apr 8. J Inherit Metab Dis. 2019. PMID: 30761551
Cerebellar and hepatic alterations in ACBD5-deficient mice are associated with unexpected, distinct alterations in cellular lipid homeostasis.
Darwisch W, von Spangenberg M, Lehmann J, Singin Ö, Deubert G, Kühl S, Roos J, Horstmann H, Körber C, Hoppe S, Zheng H, Kuner T, Pras-Raves ML, van Kampen AHC, Waterham HR, Schwarz KV, Okun JG, Schultz C, Vaz FM, Islinger M. Darwisch W, et al. Among authors: pras raves ml. Commun Biol. 2020 Nov 26;3(1):713. doi: 10.1038/s42003-020-01442-x. Commun Biol. 2020. PMID: 33244184 Free PMC article.
Direct Infusion Based Metabolomics Identifies Metabolic Disease in Patients' Dried Blood Spots and Plasma.
Haijes HA, Willemsen M, Van der Ham M, Gerrits J, Pras-Raves ML, Prinsen HCMT, Van Hasselt PM, De Sain-van der Velden MGM, Verhoeven-Duif NM, Jans JJM. Haijes HA, et al. Among authors: pras raves ml. Metabolites. 2019 Jan 11;9(1):12. doi: 10.3390/metabo9010012. Metabolites. 2019. PMID: 30641898 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: pras raves ml. 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.
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: pras raves ml. 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
Functional characterisation of peroxisomal β-oxidation disorders in fibroblasts using lipidomics.
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: pras raves ml. J Inherit Metab Dis. 2018 May;41(3):479-487. doi: 10.1007/s10545-017-0076-9. Epub 2017 Aug 28. J Inherit Metab Dis. 2018. PMID: 28849344 Free PMC article.
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