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CIAO1 and MMS19 deficiency: A lethal neurodegenerative phenotype caused by cytosolic Fe-S cluster protein assembly disorders.
Genet Med. 2024 Feb 24;26(6):101104. doi: 10.1016/j.gim.2024.101104. Online ahead of print.
Genet Med. 2024.
PMID: 38411040
Free article.
Tracer-based lipidomics enables the discovery of disease-specific candidate biomarkers in mitochondrial β-oxidation disorders.
Schwantje M, Mosegaard S, Knottnerus SJG, van Klinken JB, Wanders RJ, van Lenthe H, Hermans J, IJlst L, Denis SW, Jaspers YRJ, Fuchs SA, Houtkooper RH, Ferdinandusse S, Vaz FM.
Schwantje M, et al. Among authors: jaspers yrj.
FASEB J. 2024 Feb 29;38(4):e23478. doi: 10.1096/fj.202302163R.
FASEB J. 2024.
PMID: 38372965
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Sex-specific newborn screening for X-linked adrenoleukodystrophy.
Albersen M, van der Beek SL, Dijkstra IME, Alders M, Barendsen RW, Bliek J, Boelen A, Ebberink MS, Ferdinandusse S, Goorden SMI, Heijboer AC, Jansen M, Jaspers YRJ, Metgod I, Salomons GS, Vaz FM, Verschoof-Puite RK, Visser WF, Dekkers E, Engelen M, Kemp S.
Albersen M, et al. Among authors: jaspers yrj.
J Inherit Metab Dis. 2023 Jan;46(1):116-128. doi: 10.1002/jimd.12571. Epub 2022 Oct 26.
J Inherit Metab Dis. 2023.
PMID: 36256460
Free PMC article.
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Polar metabolomics in human muscle biopsies using a liquid-liquid extraction and full-scan LC-MS.
Schomakers BV, Hermans J, Jaspers YRJ, Salomons G, Vaz FM, van Weeghel M, Houtkooper RH.
Schomakers BV, et al. Among authors: jaspers yrj.
STAR Protoc. 2022 Apr 16;3(2):101302. doi: 10.1016/j.xpro.2022.101302. eCollection 2022 Jun 17.
STAR Protoc. 2022.
PMID: 35479116
Free PMC article.
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Molecular Biomarkers for Adrenoleukodystrophy: An Unmet Need.
Honey MIJ, Jaspers YRJ, Engelen M, Kemp S, Huffnagel IC.
Honey MIJ, et al. Among authors: jaspers yrj.
Cells. 2021 Dec 6;10(12):3427. doi: 10.3390/cells10123427.
Cells. 2021.
PMID: 34943935
Free PMC article.
Review.
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Corrigendum: Adrenoleukodystrophy Newborn Screening in the Netherlands (SCAN Study): The X-Factor.
Barendsen RW, Dijkstra IME, Visser WF, Alders M, Bliek J, Boelen A, Bouva MJ, van der Crabben SN, Elsinghorst E, van Gorp AGM, Heijboer AC, Jansen M, Jaspers YRJ, van Lenthe H, Metgod I, Mooij CF, van der Sluijs EHC, van Trotsenburg ASP, Verschoof-Puite RK, Vaz FM, Waterham HR, Wijburg FA, Engelen M, Dekkers E, Kemp S.
Barendsen RW, et al. Among authors: jaspers yrj.
Front Cell Dev Biol. 2021 Jan 28;9:631655. doi: 10.3389/fcell.2021.631655. eCollection 2021.
Front Cell Dev Biol. 2021.
PMID: 33585488
Free PMC article.
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Comparison of the Diagnostic Performance of C26:0-Lysophosphatidylcholine and Very Long-Chain Fatty Acids Analysis for Peroxisomal Disorders.
Jaspers YRJ, Ferdinandusse S, Dijkstra IME, Barendsen RW, van Lenthe H, Kulik W, Engelen M, Goorden SMI, Vaz FM, Kemp S.
Jaspers YRJ, et al.
Front Cell Dev Biol. 2020 Jul 29;8:690. doi: 10.3389/fcell.2020.00690. eCollection 2020.
Front Cell Dev Biol. 2020.
PMID: 32903870
Free PMC article.
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Adrenoleukodystrophy Newborn Screening in the Netherlands (SCAN Study): The X-Factor.
Barendsen RW, Dijkstra IME, Visser WF, Alders M, Bliek J, Boelen A, Bouva MJ, van der Crabben SN, Elsinghorst E, van Gorp AGM, Heijboer AC, Jansen M, Jaspers YRJ, van Lenthe H, Metgod I, Mooij CF, van der Sluijs EHC, van Trotsenburg ASP, Verschoof-Puite RK, Vaz FM, Waterham HR, Wijburg FA, Engelen M, Dekkers E, Kemp S.
Barendsen RW, et al. Among authors: jaspers yrj.
Front Cell Dev Biol. 2020 Jun 17;8:499. doi: 10.3389/fcell.2020.00499. eCollection 2020.
Front Cell Dev Biol. 2020.
PMID: 32626714
Free PMC article.
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