Ebberink MS - Search Results

1

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: ebberink ms. 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.

2

Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene.

Ebberink MS, Csanyi B, Chong WK, Denis S, Sharp P, Mooijer PA, Dekker CJ, Spooner C, Ngu LH, De Sousa C, Wanders RJ, Fietz MJ, Clayton PT, Waterham HR, Ferdinandusse S. Ebberink MS, et al. J Med Genet. 2010 Sep;47(9):608-15. doi: 10.1136/jmg.2009.074302. Epub 2010 Jul 20. J Med Genet. 2010. PMID: 20647552 Free article.

3

A novel defect of peroxisome division due to a homozygous non-sense mutation in the PEX11β gene.

Ebberink MS, Koster J, Visser G, Spronsen Fv, Stolte-Dijkstra I, Smit GP, Fock JM, Kemp S, Wanders RJ, Waterham HR. Ebberink MS, et al. J Med Genet. 2012 May;49(5):307-13. doi: 10.1136/jmedgenet-2012-100778. J Med Genet. 2012. PMID: 22581968

4

The important role of biochemical and functional studies in the diagnostics of peroxisomal disorders.

Ferdinandusse S, Ebberink MS, Vaz FM, Waterham HR, Wanders RJ. Ferdinandusse S, et al. Among authors: ebberink ms. J Inherit Metab Dis. 2016 Jul;39(4):531-43. doi: 10.1007/s10545-016-9922-4. Epub 2016 Mar 4. J Inherit Metab Dis. 2016. PMID: 26943801 Free PMC article. Review.

5

A novel case of ACOX2 deficiency leads to recognition of a third human peroxisomal acyl-CoA oxidase.

Ferdinandusse S, Denis S, van Roermund CWT, Preece MA, Koster J, Ebberink MS, Waterham HR, Wanders RJA. Ferdinandusse S, et al. Among authors: ebberink ms. Biochim Biophys Acta Mol Basis Dis. 2018 Mar;1864(3):952-958. doi: 10.1016/j.bbadis.2017.12.032. Epub 2017 Dec 26. Biochim Biophys Acta Mol Basis Dis. 2018. PMID: 29287774 Free article.

6

A mutation creating an upstream translation initiation codon in SLC22A5 5'UTR is a frequent cause of primary carnitine deficiency.

Ferdinandusse S, Te Brinke H, Ruiter JPN, Haasjes J, Oostheim W, van Lenthe H, IJlst L, Ebberink MS, Wanders RJA, Vaz FM, Waterham HR. Ferdinandusse S, et al. Among authors: ebberink ms. Hum Mutat. 2019 Oct;40(10):1899-1904. doi: 10.1002/humu.23839. Epub 2019 Jul 3. Hum Mutat. 2019. PMID: 31187905 Free PMC article.

7

Abnormal VLCADD newborn screening resembling MADD in four neonates with decreased riboflavin levels and VLCAD activity.

Hagemeijer MC, Oussoren E, Ruijter GJG, Onkenhout W, Huidekoper HH, Ebberink MS, Waterham HR, Ferdinandusse S, de Vries MC, Huigen MCDG, Kluijtmans LAJ, Coene KLM, Blom HJ. Hagemeijer MC, et al. Among authors: ebberink ms. JIMD Rep. 2021 May 7;61(1):12-18. doi: 10.1002/jmd2.12223. eCollection 2021 Sep. JIMD Rep. 2021. PMID: 34485012 Free PMC article.

8

Biochemical Studies in Fibroblasts to Interpret Variants of Unknown Significance in the ABCD1 Gene.

van de Stadt SIW, Mooyer PAW, Dijkstra IME, Dekker CJM, Vats D, Vera M, Ruzhnikov MRZ, van Haren K, Tang N, Koop K, Willemsen MA, Hui J, Vaz FM, Ebberink MS, Engelen M, Kemp S, Ferdinandusse S. van de Stadt SIW, et al. Among authors: ebberink ms. Genes (Basel). 2021 Nov 30;12(12):1930. doi: 10.3390/genes12121930. Genes (Basel). 2021. PMID: 34946879 Free PMC article.

9

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: ebberink ms. 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.

10

Autosomal dominant Zellweger spectrum disorder caused by de novo variants in PEX14 gene.

Waterham HR, Koster J, Ebberink MS, Ješina P, Zeman J, Nosková L, Kmoch S, Devic P, Cheillan D, Wanders RJA, Ferdinandusse S. Waterham HR, et al. Among authors: ebberink ms. Genet Med. 2023 Nov;25(11):100944. doi: 10.1016/j.gim.2023.100944. Epub 2023 Jul 23. Genet Med. 2023. PMID: 37493040 Free article.

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