Demirdas S - Search Results

1

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

2

Osteosclerotic Metaphyseal Dysplasia Due to a Likely Pathogenic LRRK1 Variant as a Cause of Recurrent Long Bone Fractures.

van Velsen EFS, Demirdas S, Hanff D, Zillikens MC. van Velsen EFS, et al. Among authors: demirdas s. JBMR Plus. 2023 Jun 28;7(8):e10755. doi: 10.1002/jbm4.10755. eCollection 2023 Aug. JBMR Plus. 2023. PMID: 37614307 Free PMC article.

3

DNA methylation episignature for Witteveen-Kolk syndrome due to SIN3A haploinsufficiency.

Coenen-van der Spek J, Relator R, Kerkhof J, McConkey H, Levy MA, Tedder ML, Louie RJ, Fletcher RS, Moore HW, Childers A, Farrelly ER, Champaigne NL, Lyons MJ, Everman DB, Rogers RC, Skinner SA, Renck A, Matalon DR, Dills SK, Monteleone B, Demirdas S, Dingemans AJM, Donker Kaat L, Kolk SM, Pfundt R, Rump P, Sadikovic B, Kleefstra T, Butler KM. Coenen-van der Spek J, et al. Among authors: demirdas s. Genet Med. 2023 Jan;25(1):63-75. doi: 10.1016/j.gim.2022.10.004. Epub 2022 Nov 18. Genet Med. 2023. PMID: 36399132 Free article.

4

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.

5

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.

6

Bone health in phenylketonuria: a systematic review and meta-analysis.

Demirdas S, Coakley KE, Bisschop PH, Hollak CE, Bosch AM, Singh RH. Demirdas S, et al. Orphanet J Rare Dis. 2015 Feb 15;10:17. doi: 10.1186/s13023-015-0232-y. Orphanet J Rare Dis. 2015. PMID: 25758373 Free PMC article. Review.

7

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. 2017;70(2):111-121. doi: 10.1159/000465529. Epub 2017 Mar 24. Ann Nutr Metab. 2017. PMID: 28334709 Free PMC article.

8

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.

9

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.

10

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.

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