Demirdas S - Search Results

1

Integration of metabolomics with genomics: Metabolic gene prioritization using metabolomics data and genomic variant (CADD) scores.

Bongaerts M, Bonte R, Demirdas S, Huidekoper HH, Langendonk J, Wilke M, de Valk W, Blom HJ, Reinders MJT, Ruijter GJG. Bongaerts M, et al. Among authors: demirdas s. Mol Genet Metab. 2022 Jul;136(3):199-218. doi: 10.1016/j.ymgme.2022.05.002. Epub 2022 May 25. Mol Genet Metab. 2022. PMID: 35660124 Free article.

2

Evaluation of quality of life in PKU before and after introducing tetrahydrobiopterin (BH4); a prospective multi-center cohort study.

Demirdas S, Maurice-Stam H, Boelen CC, Hofstede FC, Janssen MC, Langendonk JG, Mulder MF, Rubio-Gozalbo ME, van Spronsen FJ, de Vries M, Grootenhuis MA, Bosch AM. Demirdas S, et al. Mol Genet Metab. 2013;110 Suppl:S49-56. doi: 10.1016/j.ymgme.2013.09.015. Epub 2013 Sep 25. Mol Genet Metab. 2013. PMID: 24100246

3

Molecular characterization of MPS IIIA, MPS IIIB and MPS IIIC in Tunisian patients.

Deden AC, van Slegtenhorst MA, Ruijter GJG, Schoonderwoerd GC, Huidekoper HH, Oussoren E, Brooks AS, Demirdas S. Deden AC, et al. Among authors: demirdas s. Clin Chim Acta. 2018 Sep;484:231. doi: 10.1016/j.cca.2018.06.003. Epub 2018 Jun 2. Clin Chim Acta. 2018. PMID: 29870682 No abstract available.

4

Untargeted Metabolomics-Based Screening Method for Inborn Errors of Metabolism using Semi-Automatic Sample Preparation with an UHPLC- Orbitrap-MS Platform.

Bonte R, Bongaerts M, Demirdas S, Langendonk JG, Huidekoper HH, Williams M, Onkenhout W, Jacobs EH, Blom HJ, Ruijter GJG. Bonte R, et al. Among authors: demirdas s. Metabolites. 2019 Nov 26;9(12):289. doi: 10.3390/metabo9120289. Metabolites. 2019. PMID: 31779119 Free PMC article.

5

Using Out-of-Batch Reference Populations to Improve Untargeted Metabolomics for Screening Inborn Errors of Metabolism.

Bongaerts M, Bonte R, Demirdas S, Jacobs EH, Oussoren E, van der Ploeg AT, Wagenmakers MAEM, Hofstra RMW, Blom HJ, Reinders MJT, Ruijter GJG. Bongaerts M, et al. Among authors: demirdas s. Metabolites. 2020 Dec 25;11(1):8. doi: 10.3390/metabo11010008. Metabolites. 2020. PMID: 33375624 Free PMC article.

6

Mucolipidosis type II and type III: a systematic review of 843 published cases.

Dogterom EJ, Wagenmakers MAEM, Wilke M, Demirdas S, Muschol NM, Pohl S, Meijden JCV, Rizopoulos D, Ploeg ATV, Oussoren E. Dogterom EJ, et al. Among authors: demirdas s. Genet Med. 2021 Nov;23(11):2047-2056. doi: 10.1038/s41436-021-01244-4. Epub 2021 Jun 25. Genet Med. 2021. PMID: 34172897 Free article.

7

Impressive clinical improvement and disappearance of neuropathic pain in an adult patient with hypophosphatasia treated with asfotase alfa.

Zervou Z, Plooij R, van Velsen EFS, Timmermans RGM, Demirdas S, Zillikens MC. Zervou Z, et al. Among authors: demirdas s. Eur J Med Genet. 2024 Apr;68:104915. doi: 10.1016/j.ejmg.2024.104915. Epub 2024 Feb 5. Eur J Med Genet. 2024. PMID: 38325645 Free article.

8

The time consuming nature of phenylketonuria: a cross-sectional study investigating time burden and costs of phenylketonuria in the Netherlands.

Eijgelshoven I, Demirdas S, Smith TA, van Loon JM, Latour S, Bosch AM. Eijgelshoven I, et al. Among authors: demirdas s. Mol Genet Metab. 2013 Jul;109(3):237-42. doi: 10.1016/j.ymgme.2013.05.003. Epub 2013 May 10. Mol Genet Metab. 2013. PMID: 23731533 Free article.

9

Response to the Letter to the Editor Regarding "Micronutrients, Essential Fatty Acids and Bone Health in Phenylketonuria".

Demirdas S, van Spronsen FJ, Hollak CEM, van der Lee JH, Bisschop PH, Vaz FM, Ter Horst NM, Rubio-Gozalbo ME, Bosch AM. Demirdas S, et al. Ann Nutr Metab. 2018;72(1):80-81. doi: 10.1159/000486185. Epub 2018 Jan 16. Ann Nutr Metab. 2018. PMID: 29339635 Free article. No abstract available.

10

Clinical pathways for inborn errors of metabolism: warranted and feasible.

Demirdas S, van Kessel IN, Korndewal MJ, Hollak CE, Meutgeert H, Klaren A, van Rijn M, van Spronsen FJ, Bosch AM; Dutch working Group. Demirdas S, et al. Orphanet J Rare Dis. 2013 Feb 25;8:37. doi: 10.1186/1750-1172-8-37. Orphanet J Rare Dis. 2013. PMID: 23442887 Free PMC article.

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