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Year Number of Results
2006 2
2007 1
2008 1
2011 3
2012 3
2013 1
2014 2
2015 4
2016 2
2017 2
2018 5
2019 5
2020 8
2021 14
2022 7
2023 2
2024 1

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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.
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.
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.
Management of early treated adolescents and young adults with phenylketonuria: Development of international consensus recommendations using a modified Delphi approach.
Burton BK, Hermida Á, Bélanger-Quintana A, Bell H, Bjoraker KJ, Christ SE, Grant ML, Harding CO, Huijbregts SCJ, Longo N, McNutt MC 2nd, Nguyen-Driver MD, Santos Pessoa AL, Rocha JC, Sacharow S, Sanchez-Valle A, Sivri HS, Vockley J, Walterfang M, Whittle S, Muntau AC. Burton BK, et al. Among authors: sivri hs. Mol Genet Metab. 2022 Sep-Oct;137(1-2):114-126. doi: 10.1016/j.ymgme.2022.07.012. Epub 2022 Jul 29. Mol Genet Metab. 2022. PMID: 36027720 Free article.
Liver-Directed Adeno-Associated Virus-Mediated Gene Therapy for Mucopolysaccharidosis Type VI.
Brunetti-Pierri N, Ferla R, Ginocchio VM, Rossi A, Fecarotta S, Romano R, Parenti G, Yildiz Y, Zancan S, Pecorella V, Dell'Anno M, Graziano M, Alliegro M, Andria G, Santamaria F, Brunetti-Pierri R, Simonelli F, Nigro V, Vargas M, Servillo G, Borgia F, Soscia E, Gargaro M, Funghini S, Tedesco N, Le Brun PR, Rupar CA, Prasad C, O'Callaghan M, Mitchell JJ, Danos O, Marteau JB, Galimberti S, Valsecchi MG, Veron P, Mingozzi F, Fallarino F, la Marca G, Sivri HS, Auricchio A. Brunetti-Pierri N, et al. Among authors: sivri hs. NEJM Evid. 2022 Jul;1(7):EVIDoa2200052. doi: 10.1056/EVIDoa2200052. Epub 2022 Jun 6. NEJM Evid. 2022. PMID: 38319253
Natural History of Vanishing White Matter.
Hamilton EMC, van der Lei HDW, Vermeulen G, Gerver JAM, Lourenço CM, Naidu S, Mierzewska H, Gemke RJBJ, de Vet HCW, Uitdehaag BMJ, Lissenberg-Witte BI; VWM Research Group; van der Knaap MS. Hamilton EMC, et al. Ann Neurol. 2018 Aug;84(2):274-288. doi: 10.1002/ana.25287. Epub 2018 Sep 6. Ann Neurol. 2018. PMID: 30014503 Free PMC article.
59 results