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Year Number of Results
2013 1
2014 2
2015 1
2017 2
2018 6
2019 3
2020 7
2021 7
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2023 5
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36 results

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Page 1
Three-Country Snapshot of Ornithine Transcarbamylase Deficiency.
Seker Yilmaz B, Baruteau J, Arslan N, Aydin HI, Barth M, Bozaci AE, Brassier A, Canda E, Cano A, Chronopoulou E, Connolly GM, Damaj L, Dawson C, Dobbelaere D, Douillard C, Eminoglu FT, Erdol S, Ersoy M, Fang S, Feillet F, Gokcay G, Goksoy E, Gorce M, Inci A, Kadioglu B, Kardas F, Kasapkara CS, Kilic Yildirim G, Kor D, Kose M, Marelli C, Mundy H, O'Sullivan S, Ozturk Hismi B, Ramachandran R, Roubertie A, Sanlilar M, Schiff M, Sreekantam S, Stepien KM, Uzun Unal O, Yildiz Y, Zubarioglu T, Gissen P. Seker Yilmaz B, et al. Among authors: kose m. Life (Basel). 2022 Oct 27;12(11):1721. doi: 10.3390/life12111721. Life (Basel). 2022. PMID: 36362876 Free PMC article.
A surprising cause of proteinuria: Answers.
Demir BK, Kanık A, Köse M, Hişmi BÖ, Baran M. Demir BK, et al. Among authors: kose m. Pediatr Nephrol. 2022 May;37(5):1033-1039. doi: 10.1007/s00467-021-05363-7. Epub 2022 Jan 9. Pediatr Nephrol. 2022. PMID: 34999986 No abstract available.
A surprising cause of proteinuria: Questions.
Demir BK, Kanık A, Köse M, Hişmi BÖ, Baran M. Demir BK, et al. Among authors: kose m. Pediatr Nephrol. 2022 May;37(5):1031-1032. doi: 10.1007/s00467-021-05339-7. Epub 2022 Jan 9. Pediatr Nephrol. 2022. PMID: 34999980 No abstract available.
Biallelic variants in OGDH encoding oxoglutarate dehydrogenase lead to a neurodevelopmental disorder characterized by global developmental delay, movement disorder, and metabolic abnormalities.
Whittle EF, Chilian M, Karimiani EG, Progri H, Buhas D, Kose M, Ganetzky RD, Toosi MB, Torbati PN, Badv RS, Shelihan I, Yang H, Elloumi HZ, Lee S, Jamshidi Y, Pittman AM, Houlden H, Ignatius E, Rahman S, Maroofian R, Yoon WH, Carroll CJ. Whittle EF, et al. Among authors: kose m. Genet Med. 2023 Feb;25(2):100332. doi: 10.1016/j.gim.2022.11.001. Epub 2022 Dec 15. Genet Med. 2023. PMID: 36520152 Free PMC article.
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.
Vogel GF, Mozer-Glassberg Y, Landau YE, Schlieben LD, Prokisch H, Feichtinger RG, Mayr JA, Brennenstuhl H, Schröter J, Pechlaner A, Alkuraya FS, Baker JJ, Barcia G, Baric I, Braverman N, Burnyte B, Christodoulou J, Ciara E, Coman D, Das AM, Darin N, Della Marina A, Distelmaier F, Eklund EA, Ersoy M, Fang W, Gaignard P, Ganetzky RD, Gonzales E, Howard C, Hughes J, Konstantopoulou V, Kose M, Kerr M, Khan A, Lenz D, McFarland R, Margolis MG, Morrison K, Müller T, Murayama K, Nicastro E, Pennisi A, Peters H, Piekutowska-Abramczuk D, Rötig A, Santer R, Scaglia F, Schiff M, Shagrani M, Sharrard M, Soler-Alfonso C, Staufner C, Storey I, Stormon M, Taylor RW, Thorburn DR, Teles EL, Wang JS, Weghuber D, Wortmannd S. Vogel GF, et al. Among authors: kose m. Genet Med. 2023 Jun;25(6):100828. doi: 10.1016/j.gim.2023.100828. Epub 2023 Apr 13. Genet Med. 2023. PMID: 37272928 Free article. No abstract available.
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.
Vogel GF, Mozer-Glassberg Y, Landau YE, Schlieben LD, Prokisch H, Feichtinger RG, Mayr JA, Brennenstuhl H, Schröter J, Pechlaner A, Alkuraya FS, Baker JJ, Barcia G, Baric I, Braverman N, Burnyte B, Christodoulou J, Ciara E, Coman D, Das AM, Darin N, Della Marina A, Distelmaier F, Eklund EA, Ersoy M, Fang W, Gaignard P, Ganetzky RD, Gonzales E, Howard C, Hughes J, Konstantopoulou V, Kose M, Kerr M, Khan A, Lenz D, McFarland R, Margolis MG, Morrison K, Müller T, Murayama K, Nicastro E, Pennisi A, Peters H, Piekutowska-Abramczuk D, Rötig A, Santer R, Scaglia F, Schiff M, Shagrani M, Sharrard M, Soler-Alfonso C, Staufner C, Storey I, Stormon M, Taylor RW, Thorburn DR, Teles EL, Wang JS, Weghuber D, Wortmann S. Vogel GF, et al. Among authors: kose m. Genet Med. 2023 Jun;25(6):100314. doi: 10.1016/j.gim.2022.09.015. Epub 2022 Oct 29. Genet Med. 2023. PMID: 36305855 Free article.
Inborn errors of metabolism in palliative care.
Harputluoğlu N, Köse M, Yılmaz Ü, Çelik T. Harputluoğlu N, et al. Among authors: kose m. Pediatr Int. 2021 Oct;63(10):1175-1179. doi: 10.1111/ped.14660. Epub 2021 Sep 3. Pediatr Int. 2021. PMID: 33600034
A new mutation associated with Pierson syndrome.
Kulali F, Calkavur S, Basaran C, Serdaroglu E, Kose M, Saka Guvenc M. Kulali F, et al. Among authors: kose m. Arch Argent Pediatr. 2020 Jun;118(3):e288-e291. doi: 10.5546/aap.2020.eng.e288. Arch Argent Pediatr. 2020. PMID: 32470267 Free article. English, Spanish.
The effectiveness of the ketogenic diet in drug-resistant childhood epilepsy.
Yılmaz Ü, Edizer S, Akışin Z, Köse M, Güzin Y, Gürbüz G, Baysal BT, Sarıtaş S, Pekuz S, Kırkgöz HH, Yavuz M, Ünalp A. Yılmaz Ü, et al. Among authors: kose m. Turk J Pediatr. 2022;64(2):210-220. doi: 10.24953/turkjped.2021.4. Turk J Pediatr. 2022. PMID: 35611409 Free article.
36 results