Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

34 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases.
Maas RR, Iwanicka-Pronicka K, Kalkan Ucar S, Alhaddad B, AlSayed M, Al-Owain MA, Al-Zaidan HI, Balasubramaniam S, Barić I, Bubshait DK, Burlina A, Christodoulou J, Chung WK, Colombo R, Darin N, Freisinger P, Garcia Silva MT, Grunewald S, Haack TB, van Hasselt PM, Hikmat O, Hörster F, Isohanni P, Ramzan K, Kovacs-Nagy R, Krumina Z, Martin-Hernandez E, Mayr JA, McClean P, De Meirleir L, Naess K, Ngu LH, Pajdowska M, Rahman S, Riordan G, Riley L, Roeben B, Rutsch F, Santer R, Schiff M, Seders M, Sequeira S, Sperl W, Staufner C, Synofzik M, Taylor RW, Trubicka J, Tsiakas K, Unal O, Wassmer E, Wedatilake Y, Wolff T, Prokisch H, Morava E, Pronicka E, Wevers RA, de Brouwer AP, Wortmann SB. Maas RR, et al. Among authors: kalkan ucar s. Ann Neurol. 2017 Dec;82(6):1004-1015. doi: 10.1002/ana.25110. Ann Neurol. 2017. PMID: 29205472 Free PMC article.
Unravelling 5-oxoprolinuria (pyroglutamic aciduria) due to bi-allelic OPLAH mutations: 20 new mutations in 14 families.
Sass JO, Gemperle-Britschgi C, Tarailo-Graovac M, Patel N, Walter M, Jordanova A, Alfadhel M, Barić I, Çoker M, Damli-Huber A, Faqeih EA, García Segarra N, Geraghty MT, Jåtun BM, Kalkan Uçar S, Kriewitz M, Rauchenzauner M, Bilić K, Tournev I, Till C, Sayson B, Beumer D, Ye CX, Zhang LH, Vallance H, Alkuraya FS, van Karnebeek CD. Sass JO, et al. Among authors: kalkan ucar s. Mol Genet Metab. 2016 Sep;119(1-2):44-9. doi: 10.1016/j.ymgme.2016.07.008. Epub 2016 Jul 22. Mol Genet Metab. 2016. PMID: 27477828
Erythrocyte Encapsulated Thymidine Phosphorylase for the Treatment of Patients with Mitochondrial Neurogastrointestinal Encephalomyopathy: Study Protocol for a Multi-Centre, Multiple Dose, Open Label Trial.
Bax BE, Levene M, Bain MD, Fairbanks LD, Filosto M, Kalkan Uçar S, Klopstock T, Kornblum C, Mandel H, Rahman S, Roubertie A, Scarpelli M, Sedgwick PM, Baru M, Sellos-Moura M, Price J, Horn P, Nirmalananthan N. Bax BE, et al. Among authors: kalkan ucar s. J Clin Med. 2019 Jul 24;8(8):1096. doi: 10.3390/jcm8081096. J Clin Med. 2019. PMID: 31344955 Free PMC article.
Glutaric aciduria type 1: Insights into diagnosis and neurogenetic outcomes.
Yoldas Celik M, Canda E, Yazici H, Erdem F, Yuksel Yanbolu A, Atik Altınok Y, Eraslan C, Aykut A, Durmaz A, Habif S, Kalkan Ucar S, Coker M. Yoldas Celik M, et al. Among authors: kalkan ucar s. Eur J Pediatr. 2024 Dec 10;184(1):72. doi: 10.1007/s00431-024-05907-7. Eur J Pediatr. 2024. PMID: 39658645
Biotinidase Deficiency: Prevalence, Impact And Management Strategies.
Canda E, Kalkan Uçar S, Çoker M. Canda E, et al. Among authors: kalkan ucar s. Pediatric Health Med Ther. 2020 May 4;11:127-133. doi: 10.2147/PHMT.S198656. eCollection 2020. Pediatric Health Med Ther. 2020. PMID: 32440248 Free PMC article. Review.
34 results