Yıldız Y - Search Results

1

Homozygous missense VPS16 variant is associated with a novel disease, resembling mucopolysaccharidosis-plus syndrome in two siblings.

Yıldız Y, Koşukcu C, Aygün D, Akçaboy M, Öztek Çelebi FZ, Taşcı Yıldız Y, Şahin G, Aytekin C, Yüksel D, Lay İ, Özgül RK, Dursun A. Yıldız Y, et al. Clin Genet. 2021 Sep;100(3):308-317. doi: 10.1111/cge.14002. Epub 2021 Jun 4. Clin Genet. 2021. PMID: 34013567

2

Partial hydatidiform mole in a phenylketonuria patient treated with sapropterin dihydrochloride.

Yildiz Y, Dursun A, Tokatli A, Coskun T, Sivri S. Yildiz Y, et al. Gynecol Endocrinol. 2017 Jan;33(1):19-20. doi: 10.1080/09513590.2016.1247796. Epub 2016 Nov 29. Gynecol Endocrinol. 2017. PMID: 27898272 Free article.

3

Late-diagnosed phenylketonuria in an eight-year-old boy with dyslexia and attention-deficit hyperactivity disorder.

Yıldız Y, Dursun A, Tokatlı A, Coşkun T, Sivri HS. Yıldız Y, et al. Turk J Pediatr. 2016;58(1):94-96. doi: 10.24953/turkjped.2016.01.014. Turk J Pediatr. 2016. PMID: 27922243 Free article.

4

Determinants of Riboflavin Responsiveness in Multiple Acyl-CoA Dehydrogenase Deficiency.

Yıldız Y, Talim B, Haliloglu G, Topaloglu H, Akçören Z, Dursun A, Sivri HS, Coşkun T, Tokatlı A. Yıldız Y, et al. Pediatr Neurol. 2019 Oct;99:69-75. doi: 10.1016/j.pediatrneurol.2019.06.015. Epub 2019 Jun 28. Pediatr Neurol. 2019. PMID: 31331668

5

Cognitive and behavioral impairment in mild hyperphenylalaninemia.

Evinç SG, Pektaş E, Foto-Özdemir D, Yıldız Y, Karaboncuk Y, Bilginer-Gürbüz B, Dursun A, Tokatlı A, Coskun T, Öktem F, Sivri HS. Evinç SG, et al. Among authors: yildiz y. Turk J Pediatr. 2018;60(6):617-624. doi: 10.24953/turkjped.2018.06.001. Turk J Pediatr. 2018. PMID: 31365197 Free article.

Evinc SG, Pektas E, Foto-Ozdemir D, Yildiz Y, Karaboncuk Y, Bilginer-Gurbuz B, Dursun A, Tokatli A, Coskun T, Oktem F, Sivri HS. ...

Evinc SG, Pektas E, Foto-Ozdemir D, Yildiz Y, Karaboncuk Y, Bilginer-Gurbuz B, Dursun A, Tokatli A, Coskun T, Oktem F, …

6

Erratum to 'Determinants of Riboflavin Responsiveness in Multiple Acyl-CoA Dehydrogenase Deficiency' [Pediatric Neurology 99 (2019) 69-75].

Yıldız Y, Talim B, Haliloglu G, Topaloglu H, Akçören Z, Dursun A, Sivri HS, Coşkun T, Tokatlı A. Yıldız Y, et al. Pediatr Neurol. 2020 Feb;103:91. doi: 10.1016/j.pediatrneurol.2019.11.001. Epub 2019 Dec 6. Pediatr Neurol. 2020. PMID: 31818519 No abstract available.

7

When Pancreatitis Stinks: A Rare Cause of Acute Recurrent Pancreatitis in a Child.

Yildiz Y, Şahin G, Özbay Hoşnut F. Yildiz Y, et al. Pancreas. 2020 Jan;49(1):e7-e8. doi: 10.1097/MPA.0000000000001416. Pancreas. 2020. PMID: 31856096 No abstract available.

8

Genotypes and estimated prevalence of phosphomannomutase 2 deficiency in Turkey differ significantly from those in Europe.

Yıldız Y, Arslan M, Çelik G, Kasapkara ÇS, Ceylaner S, Dursun A, Sivri HS, Coşkun T, Tokatlı A. Yıldız Y, et al. Am J Med Genet A. 2020 Apr;182(4):705-712. doi: 10.1002/ajmg.a.61488. Epub 2020 Jan 25. Am J Med Genet A. 2020. PMID: 31981409

9

Predictors of acute metabolic decompensation in children with maple syrup urine disease at the emergency department.

Yıldız Y, Akcan Yıldız L, Dursun A, Tokatlı A, Coşkun T, Tekşam Ö, Sivri HS. Yıldız Y, et al. Eur J Pediatr. 2020 Jul;179(7):1107-1114. doi: 10.1007/s00431-020-03602-x. Epub 2020 Feb 11. Eur J Pediatr. 2020. PMID: 32048023

10

Oral health status of children with phenylketonuria.

Ballikaya E, Yildiz Y, Sivri HS, Tokatli A, Dursun A, Olmez S, Coskun T, Uzamis Tekcicek M. Ballikaya E, et al. Among authors: yildiz y. J Pediatr Endocrinol Metab. 2020 Mar 26;33(3):361-365. doi: 10.1515/jpem-2019-0439. J Pediatr Endocrinol Metab. 2020. PMID: 32049652

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