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59 results

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Page 1
Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies.
Opladen T, López-Laso E, Cortès-Saladelafont E, Pearson TS, Sivri HS, Yildiz Y, Assmann B, Kurian MA, Leuzzi V, Heales S, Pope S, Porta F, García-Cazorla A, Honzík T, Pons R, Regal L, Goez H, Artuch R, Hoffmann GF, Horvath G, Thöny B, Scholl-Bürgi S, Burlina A, Verbeek MM, Mastrangelo M, Friedman J, Wassenberg T, Jeltsch K, Kulhánek J, Kuseyri Hübschmann O; International Working Group on Neurotransmitter related Disorders (iNTD). Opladen T, et al. Among authors: sivri hs. Orphanet J Rare Dis. 2020 May 26;15(1):126. doi: 10.1186/s13023-020-01379-8. Orphanet J Rare Dis. 2020. PMID: 32456656 Free PMC article. Review.
Recommendations on phenylketonuria in Turkey.
Coşkun T, Çoker M, Mungan NÖ, Özel HG, Sivri HS. Coşkun T, et al. Among authors: sivri hs. Turk J Pediatr. 2022;64(3):413-434. doi: 10.24953/turkjped.2021.4098. Turk J Pediatr. 2022. PMID: 35899555 Free article.
COVID-19-related anxiety in phenylketonuria patients.
Akar HT, Karaboncuk Y, Çıkı K, Kahraman AB, Erdal İ, Coşkun T, Tokatlı A, Dursun A, Yıldız Y, Sivri HS. Akar HT, et al. Among authors: sivri hs. Turk J Pediatr. 2021;63(5):790-800. doi: 10.24953/turkjped.2021.05.007. Turk J Pediatr. 2021. PMID: 34738361 Free article.
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: sivri hs. Turk J Pediatr. 2018;60(6):617-624. doi: 10.24953/turkjped.2018.06.001. Turk J Pediatr. 2018. PMID: 31365197 Free article.
Oral health status in patients with mucopolysaccharidoses.
Ballıkaya E, Eymirli PS, Yıldız Y, Avcu N, Sivri HS, Uzamış-Tekçiçek M. Ballıkaya E, et al. Among authors: sivri hs. Turk J Pediatr. 2018;60(4):400-406. doi: 10.24953/turkjped.2018.04.007. Turk J Pediatr. 2018. PMID: 30859764 Free article.
The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency.
Julia-Palacios NA, Kuseyri Hübschmann O, Olivella M, Pons R, Horvath G, Lücke T, Fung CW, Wong SN, Cortès-Saladelafont E, Rovira-Remisa MM, Yıldız Y, Mercimek-Andrews S, Assmann B, Stevanović G, Manti F, Brennenstuhl H, Jung-Klawitter S, Jeltsch K, Sivri HS, Garbade SF, García-Cazorla À, Opladen T. Julia-Palacios NA, et al. Among authors: sivri hs. J Inherit Metab Dis. 2024 May;47(3):447-462. doi: 10.1002/jimd.12723. Epub 2024 Mar 18. J Inherit Metab Dis. 2024. PMID: 38499966
Invisible burden of COVID-19: enzyme replacement therapy disruptions.
Kahraman AB, Yıldız Y, Çıkı K, Akar HT, Erdal İ, Dursun A, Tokatlı A, Sivri HS. Kahraman AB, et al. Among authors: sivri hs. J Pediatr Endocrinol Metab. 2021 Apr 5;34(5):539-545. doi: 10.1515/jpem-2021-0067. Print 2021 May 26. J Pediatr Endocrinol Metab. 2021. PMID: 33818036 Free article.
59 results