Zobrazeno 1 - 10 of 132 pro vyhledávání: '"Sefer, Kumandaş"'
1
Akademický článek
Evaluation of Patients with Cockayne Syndrome
Autor: Hamit Acer, Gül Demet Özçora, Mehmet Canpolat, Muhammet Ensar Doğan, Zehra Filiz Kahraman, Sefer Kumandaş
Publikováno v: The Journal of Pediatric Academy, Vol 5, Iss 3, Pp 93-98 (2024)
Cockayne syndrome (CS) is a rare, severe, genetic neurodegenerative disorder. To better understand the condition, this article aimed to discuss the clinical manifestations and prognosis of CS. This clinical study was a retrospective review of the med
Externí odkaz: https://doaj.org/article/0339ff09e8e446eba93d577fdbea35ca
Zobrazit plný text záznamu
2
Akademický článek
A Rare Cause of Spasticity and Microcephaly: Argininemia
Autor: Pembe Soylu Üstkoyuncu, Mustafa Kendirci, Songül Gökay, Fatih Kardaş, Hakan Gümüş, Hüseyin Per, Hatice Gamze Poyrazoğlu, Ayşe Kaçar Bayram, Mehmet Canpolat, Sefer Kumandaş
Publikováno v: Türk Nöroloji Dergisi, Vol 26, Iss 3, Pp 250-252 (2020)
Argininemia is an autosomal recessive urea cycle disorder caused by the deficiency of arginase. Our first case presented with psychomotor retardation, difficulty of walking, and progressive tiptoeing. Laboratory investigations revealed mildly elevate
Externí odkaz: https://doaj.org/article/503933fff92c43379d331ccc28772cd4
Zobrazit plný text záznamu
4
Clinical and EEG features, treatment, and outcome of hot water epilepsy in pediatric patients
Autor: Sevgi Çirakli, Aslıhan Demir, Sefer Kumandaş, Ayşe Kaçar Bayram, Hakan Gümüş, Hüseyin Per, Mehmet Canpolat
Publikováno v: The Journal of Pediatric Academy. :21-24
Background: Hot water epilepsy is a type of reflex epilepsy which generally occurs with pouring water on the body during bath. Objective: The aim of this study is to evaluate the clinical and electrophysiological features, treatment, and outcome of t
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::885fdb787f615ace148c12341315e351
https://doi.org/10.38092/jpa-2020-1
Zobrazit plný text záznamu
5
Long-Term Follow-Up of Patients with a Diagnosis of Posterior Reversible Encephalopathy Syndrome
Autor: Hakan Gümüş, Hakan Poyrazoglu, Abdulhakim Coskun, Mehmet Canpolat, Duran Arslan, Gül Demet Kaya Özçora, Ekrem Unal, Musa Karakukcu, Hüseyin Per, Sefer Kumandaş, Turkan Patiroglu
Publikováno v: Turkish archives of pediatrics. 56(6)
The essential characteristics of posterior reversible encephalopathy syndrome (PRES) are the presence of acute onset neurologic symptoms, focal vasogenic edema at neuroimaging, and reversible clinical and/or radiologic findings. This study aimed to e
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b522d8231a6a9c9cd8025a94df6168c
https://pubmed.ncbi.nlm.nih.gov/35110055
Zobrazit plný text záznamu
7
The Complex Genetic Landscape of Hereditary Ataxias in Turkey and Implications in Clinical Practice
Autor: Mefkure Eraksoy, Onder Us, Sibel Ertan, Hacer Durmus, Filiz Koç, Nazan Saner, Şeyma Tekgül, Pinar Tekturk, Cemile Kocoglu, Gençer Genç, Robin Palvadeau, Feza Deymeer, Güneş Kızıltan, Ece Kartal, Hulya Apaydin, Sevda Erer Özbek, Cenk Akbostanci, Suna Lahut, Yesim Parman, Erdi Şahin, Dilcan Kotan, Hülya Tireli, Murat Gultekin, Zeynep Özözen Ayas, Ersin Tan, Sibel Özekmekçi, Irmak Şahbaz, Hamit Acer, Zeynep Tufekcioglu, Dilek Ince Gunal, Hasmet Hanagasi, İhsan Şükrü Şengün, Arman Çakar, Esen Saka Topcuoglu, Gülşah Şimşir, Gülden Akdal, Elif Bayraktar, Fulya Akçimen, Ayşe Bora Tokçaer, Aysegul Gunduz, Uluç Yiş, Gul Serdaroglu, Atay Vural, Ayse Altintas, Hüseyin A. Şahin, Özgür Ömür, Tuğçe Gül, Gül Demet Kaya Özçora, Müge Kovancılar Koç, Vildan Yayla, Aksel Siva, Semra Hiz, Meral Topçu, Piraye Oflazer, Başar Bilgiç, M. Osman Çorbalı, Semiha Kurt, Elçin Bora, Nesli E. Şen, Kadriye Agan, A. Nazli Basak, Halil Güllüoğlu, Ceren Tunca, Sefer Kumandaş, Muhsin Elmas, Özgür Öztop Çakmak, Bulent Elibol, Aysun Soysal, Zeynep E. Kaya Gulec, Caroline Pirkevi Çetinkaya, Dürdane Aksoy, Aslı Gündoğdu Eken
Background The genetic and epidemiological features of hereditary ataxias have been reported in several populations; however, Turkey is still unexplored. Due to high consanguinity, recessive ataxias are more common in Turkey than in Western European
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7bd268a54a7c084aa9507fb520b75a7d
https://avesis.gazi.edu.tr/publication/details/dc537293-2ef2-4fdc-932d-c75876075839/oai
Zobrazit plný text záznamu
8
A Rare Cause of Spasticity and Microcephaly: Argininemia
Autor: Hatice Gamze Poyrazoğlu, Mustafa Kendirci, Ayşe Kaçar Bayram, Pembe Soylu Ustkoyuncu, Hakan Gümüş, Fatih Kardaş, Sefer Kumandaş, Hüseyin Per, Songul Gokay, Mehmet Canpolat
Publikováno v: Türk Nöroloji Dergisi, Vol 26, Iss 3, Pp 250-252 (2020)
Argininemia is an autosomal recessive urea cycle disorder caused by the deficiency of arginase. Our first case presented with psychomotor retardation, difficulty of walking, and progressive tiptoeing. Laboratory investigations revealed mildly elevate
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::52bbc31443c7244e6e0bfa26f8614b4b
https://avesis.erciyes.edu.tr/publication/details/573e2bd6-25d9-45b7-a24d-25c08944f511/oai
Zobrazit plný text záznamu
10
The use of rapamycin in patients with tuberous sclerosis complex: Long-term results
Autor: Hüseyin Per, Sefer Kumandaş, Abdulhakim Coskun, Mehmet Canpolat, Hakan Gümüş
Publikováno v: Epilepsy & Behavior. 88:357-364
Purpose The purpose of this study was to evaluate the long-term results of eight cases diagnosed with tuberous sclerosis complex (TSC) and receiving rapamycin therapy because of epileptic seizures and/or accompanying TSC findings. Method Rapamycin th
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c2197d67b649e4aa6127a46de5d8fc6c
https://doi.org/10.1016/j.yebeh.2018.09.020
Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání

Omezení vyhledávání
Plný text Recenzováno Digitální knihovna AV ČR
Zdroje