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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 3
2003 1
2004 2
2005 2
2006 9
2007 5
2008 1
2009 1
2010 3
2011 3
2013 2
2014 2
2015 2
2016 1
2017 1
2018 2
2019 4
2020 2
2021 2
2022 2
2024 0

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43 results

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Page 1
Thermo-sensitive mitochondrial trifunctional protein deficiency presenting with episodic myopathy.
Schwantje M, Ebberink MS, Doolaard M, Ruiter JPN, Fuchs SA, Darin N, Hedberg-Oldfors C, Régal L, Donker Kaat L, Huidekoper HH, Olpin S, Cole D, Moat SJ, Visser G, Ferdinandusse S. Schwantje M, et al. Among authors: ruiter jpn. J Inherit Metab Dis. 2022 Jul;45(4):819-831. doi: 10.1002/jimd.12503. Epub 2022 May 5. J Inherit Metab Dis. 2022. PMID: 35403730 Free PMC article.
Monocarboxylate transporter 1 deficiency and ketone utilization.
van Hasselt PM, Ferdinandusse S, Monroe GR, Ruiter JP, Turkenburg M, Geerlings MJ, Duran K, Harakalova M, van der Zwaag B, Monavari AA, Okur I, Sharrard MJ, Cleary M, O'Connell N, Walker V, Rubio-Gozalbo ME, de Vries MC, Visser G, Houwen RH, van der Smagt JJ, Verhoeven-Duif NM, Wanders RJ, van Haaften G. van Hasselt PM, et al. Among authors: ruiter jp. N Engl J Med. 2014 Nov 13;371(20):1900-7. doi: 10.1056/NEJMoa1407778. N Engl J Med. 2014. PMID: 25390740 Free article.
3-Hydroxyisobutyric acid dehydrogenase deficiency: Expanding the clinical spectrum and quantitation of D- and L-3-Hydroxyisobutyric acid by an LC-MS/MS method.
Sasarman F, Ferdinandusse S, Sinasac DS, Fung E, Sparkes R, Reeves M, Rombough C, Sass JO, Voit R, Ruiter JPN, Koster J, Waterham HR, Pasquini E, Donati MA, Marquardt T, Wanders RJA, Al-Hertani W. Sasarman F, et al. Among authors: ruiter jpn. J Inherit Metab Dis. 2022 May;45(3):445-455. doi: 10.1002/jimd.12486. Epub 2022 Mar 7. J Inherit Metab Dis. 2022. PMID: 35174513
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: ruiter jpn. 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.
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: ruiter jpn. Brain. 2019 Nov 1;142(11):3382-3397. doi: 10.1093/brain/awz291. Brain. 2019. PMID: 31637422 Free PMC article.
An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids.
Ferdinandusse S, McWalter K, Te Brinke H, IJlst L, Mooijer PM, Ruiter JPN, van Lint AEM, Pras-Raves M, Wever E, Millan F, Guillen Sacoto MJ, Begtrup A, Tarnopolsky M, Brady L, Ladda RL, Sell SL, Nowak CB, Douglas J, Tian C, Ulm E, Perlman S, Drack AV, Chong K, Martin N, Brault J, Brokamp E, Toro C, Gahl WA, Macnamara EF, Wolfe L; Undiagnosed Diseases Network; Waisfisz Q, Zwijnenburg PJG, Ziegler A, Barth M, Smith R, Ellingwood S, Gaebler-Spira D, Bakhtiari S, Kruer MC, van Kampen AHC, Wanders RJA, Waterham HR, Cassiman D, Vaz FM. Ferdinandusse S, et al. Among authors: ruiter jpn. Genet Med. 2021 Apr;23(4):740-750. doi: 10.1038/s41436-020-01027-3. Epub 2020 Nov 26. Genet Med. 2021. PMID: 33239752 Free PMC article.
Barth syndrome cells display widespread remodeling of mitochondrial complexes without affecting metabolic flux distribution.
Chatzispyrou IA, Guerrero-Castillo S, Held NM, Ruiter JPN, Denis SW, IJlst L, Wanders RJ, van Weeghel M, Ferdinandusse S, Vaz FM, Brandt U, Houtkooper RH. Chatzispyrou IA, et al. Among authors: ruiter jpn. Biochim Biophys Acta Mol Basis Dis. 2018 Nov;1864(11):3650-3658. doi: 10.1016/j.bbadis.2018.08.041. Epub 2018 Sep 1. Biochim Biophys Acta Mol Basis Dis. 2018. PMID: 30251684 Free article.
Prediction of disease severity in multiple acyl-CoA dehydrogenase deficiency: A retrospective and laboratory cohort study.
van Rijt WJ, Ferdinandusse S, Giannopoulos P, Ruiter JPN, de Boer L, Bosch AM, Huidekoper HH, Rubio-Gozalbo ME, Visser G, Williams M, Wanders RJA, Derks TGJ. van Rijt WJ, et al. Among authors: ruiter jpn. J Inherit Metab Dis. 2019 Sep;42(5):878-889. doi: 10.1002/jimd.12147. Epub 2019 Jul 17. J Inherit Metab Dis. 2019. PMID: 31268564
43 results