Goorden SM - Search Results

1

Mammalian target of rapamycin complex I (mTORC1) activity in ras homologue enriched in brain (Rheb)-deficient mouse embryonic fibroblasts.

Groenewoud MJ, Goorden SM, Kassies J, Pellis-van Berkel W, Lamb RF, Elgersma Y, Zwartkruis FJ. Groenewoud MJ, et al. Among authors: goorden sm. PLoS One. 2013 Nov 26;8(11):e81649. doi: 10.1371/journal.pone.0081649. eCollection 2013. PLoS One. 2013. PMID: 24303063 Free PMC article.

2

PAK2 is an effector of TSC1/2 signaling independent of mTOR and a potential therapeutic target for Tuberous Sclerosis Complex.

Alves MM, Fuhler GM, Queiroz KC, Scholma J, Goorden S, Anink J, Spek CA, Hoogeveen-Westerveld M, Bruno MJ, Nellist M, Elgersma Y, Aronica E, Peppelenbosch MP. Alves MM, et al. Sci Rep. 2015 Sep 28;5:14534. doi: 10.1038/srep14534. Sci Rep. 2015. PMID: 26412398 Free PMC article.

3

Rheb regulates mitophagy induced by mitochondrial energetic status.

Melser S, Chatelain EH, Lavie J, Mahfouf W, Jose C, Obre E, Goorden S, Priault M, Elgersma Y, Rezvani HR, Rossignol R, Bénard G. Melser S, et al. Cell Metab. 2013 May 7;17(5):719-30. doi: 10.1016/j.cmet.2013.03.014. Epub 2013 Apr 18. Cell Metab. 2013. PMID: 23602449 Free article.

4

Monitoring phenylalanine concentrations in the follow-up of phenylketonuria patients: An inventory of pre-analytical and analytical variation.

Coene KLM, Timmer C, Goorden SMI, Ten Hoedt AE, Kluijtmans LAJ, Janssen MCH, Rennings AJM, Prinsen HCMT, Wamelink MMC, Ruijter GJG, Körver-Keularts IMLW, Heiner-Fokkema MR, van Spronsen FJ, Hollak CE, Vaz FM, Bosch AM, Huigen MCDG. Coene KLM, et al. Among authors: goorden smi. JIMD Rep. 2020 Nov 22;58(1):70-79. doi: 10.1002/jmd2.12186. eCollection 2021 Mar. JIMD Rep. 2020. PMID: 33728249 Free PMC article.

5

Sex differences in the association of sphingolipids with age in Dutch and South-Asian Surinamese living in Amsterdam, the Netherlands.

Muilwijk M, Callender N, Goorden S, Vaz FM, van Valkengoed IGM. Muilwijk M, et al. Biol Sex Differ. 2021 Jan 13;12(1):13. doi: 10.1186/s13293-020-00353-0. Biol Sex Differ. 2021. PMID: 33436072 Free PMC article.

6

Biochemical and imaging parameters in acid sphingomyelinase deficiency: Potential utility as biomarkers.

Eskes ECB, Sjouke B, Vaz FM, Goorden SMI, van Kuilenburg ABP, Aerts JMFG, Hollak CEM. Eskes ECB, et al. Mol Genet Metab. 2020 May;130(1):16-26. doi: 10.1016/j.ymgme.2020.02.002. Epub 2020 Feb 12. Mol Genet Metab. 2020. PMID: 32088119 Review.

7

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. Among authors: goorden smi. 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.

8

Contributions of amino acid, acylcarnitine and sphingolipid profiles to type 2 diabetes risk among South-Asian Surinamese and Dutch adults.

Muilwijk M, Goorden SMI, Celis-Morales C, Hof MH, Ghauharali-van der Vlugt K, Beers-Stet FS, Gill JMR, Vaz FM, van Valkengoed IGM. Muilwijk M, et al. BMJ Open Diabetes Res Care. 2020 May;8(1):e001003. doi: 10.1136/bmjdrc-2019-001003. BMJ Open Diabetes Res Care. 2020. PMID: 32376636 Free PMC article.

9

An improved functional assay in blood spot to diagnose Barth syndrome using the monolysocardiolipin/cardiolipin ratio.

Vaz FM, van Lenthe H, Vervaart MAT, Stet FS, Klinkspoor JH, Vernon HJ, Goorden SMI, Houtkooper RH, Kulik W, Wanders RJA. Vaz FM, et al. Among authors: goorden smi. J Inherit Metab Dis. 2022 Jan;45(1):29-37. doi: 10.1002/jimd.12425. Epub 2021 Aug 24. J Inherit Metab Dis. 2022. PMID: 34382226 Free PMC article.

10

Capecitabine-based treatment of a patient with a novel DPYD genotype and complete dihydropyrimidine dehydrogenase deficiency.

Henricks LM, Siemerink EJM, Rosing H, Meijer J, Goorden SMI, Polstra AM, Zoetekouw L, Cats A, Schellens JHM, van Kuilenburg ABP. Henricks LM, et al. Int J Cancer. 2018 Jan 15;142(2):424-430. doi: 10.1002/ijc.31065. Epub 2017 Sep 30. Int J Cancer. 2018. PMID: 28929491

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