未登录Expanding the clinical and molecular spectrum of NGLY1 deficiency: A multicenter cohort扩大NGLY1缺乏症的临床和分子谱:一项多中心队列研究
Yilmaz-Gumus, Emel; Kilavuz, Sebile; Demir, Senol; Aydogan, Ayca; Genc, Emine; Akar, Halil Tuna; Akbeyaz, Ismail Hakki; Cakar, Nafiye Emel; Er, Esra; Gulbahce, Aliye; Gunes, Hatice; Kardas, Fatih; Kilic, Mustafa; Teke-Kisa, Pelin; Kosukcu, Can; Onal, Hasan; Tas, Ibrahim; Turkdogan, Dilsad; Dursun, Ali; Ozturk-Hismi, Burcu
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收藏Primary adrenal insufficiency caused by pseudo-neonatal adrenoleukodystrophy associated with biallelic ACOX1 mutations原发性肾上腺功能不全由假性新生儿肾上腺脑白质营养不良引起,并与双等位基因ACOX1突变相关。
Helvacioglu, Didem; Canbaz, Aylin Tugba; Tekmenuray-Unal, Aysel; Ada, Yasin; Yapici, Ozge; Genc, Emine; Kilavuz, Sebile; Tosun, Busra Gurpinar; Hismi, Burcu Ozturk; Guran, Tulay
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收藏Clinical, biochemical, and molecular insights into Cerebrotendinous Xanthomatosis: A nationwide study of 100 Turkish individuals
Zubarioglu, Tanyel; Kiykim, Ertugrul; Kose, Engin; Eminoglu, Fatma Tuba; Kisa, Pelin Teke; Balci, Mehmet Cihan; Ozer, Isil; Inci, Asli; Cilesiz, Kubra; Canda, Ebru; Yazici, Havva; Ozturk-Hismi, Burcu; Bulut, Fatma Derya; Dorum, Sevil; Akgun, Abdurrahman; Yalcin-Cakmakli, Guel; Kilic-Yildirim, Gonca; Soyucen, Erdogan; Akcali, Aylin; Gunes, Dilek; Durmus, Asli; Gunduz, Aysegul; Kasapkara, cigdem Seher; Goksoy, Emine; Akar, Halil Tuna; Ersoy, Melike; Erdol, Sahin; Yildiz, Yilmaz; Hanagasi, Hasmet Ayhan; Arslan, Nur; Aktuglu-Zeybek, Cigdem
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收藏Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes (vol 139, 107624, 2023)
Himmelreich, Nastassja; Bertoldi, Mariarita; Alfadhel, Majid; Alghamdi, Malak Ali; Anikster, Yair; Bao, Xinhua; Bashiri, Fahad A.; Ben Zeev, Bruria; Bisello, Giovanni; Ceylan, Ahmet Cevdet; Chien, Yin-Hsiu; Choy, Yew Sing; Elsea, Sarah H.; Flint, Lisa; Garcia-Cazorla, Angels; Gijavanekar, Charul; Gumus, Emel Yilmaz; Hamad, Muddathir H.; Hismi, Burcu; Honzik, Tomas; Hubschmann, Oya Kuseyri; Hwu, Wuh-Liang; Ibanez-Mico, Salvador; Jeltsch, Kathrin; Julia-Palacios, Natalia; Kasapkara, Cigdem Seher; Kurian, Manju A.; Kusmierska, Katarzyna; Liu, Ning; Ngu, Lock Hock; Odom, John D.; Ong, Winnie Peitee; Opladen, Thomas; Oppeboen, Mari; Pearl, Phillip L.; Perez, Belen; Pons, Roser; Rygiel, Agnieszka Magdalena; Shien, Tan Ee; Spaull, Robert; Sykut-Cegielska, Jolanta; Tabarki, Brahim; Tangeraas, Trine; Thony, Beat; Wassenberg, Tessa; Wen, Yongxin; Yakob, Yusnita; Yin, Jasmine Goh Chew; Zeman, Jiri; Blau, Nenad
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收藏Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes
Himmelreich, Nastassja; Bertoldi, Mariarita; Alfadhel, Majid; Alghamdi, Malak Ali; Anikster, Yair; Bao, Xinhua; Bashiri, Fahad A.; Ben Zeev, Bruria; Bisello, Giovanni; Ceylan, Ahmet Cevdet; Chien, Yin-Hsiu; Choy, Yew Sing; Elsea, Sarah H.; Flint, Lisa; Garcia-Cazorla, Angels; Gijavanekar, Charul; Guemues, Emel Yilmaz; Hamad, Muddathir H.; Hismi, Burcu; Honzik, Tomas; Huebschmann, Oya Kuseyri; Hwu, Wuh-Liang; Ibanez-Mico, Salvador; Jeltsch, Kathrin; Julia-Palacios, Natalia; Kasapkara, Cigdem Seher; Kurian, Manju A.; Kusmierska, Katarzyna; Liu, Ning; Ngu, Lock Hock; Odom, John D.; Ong, Winnie Peitee; Opladen, Thomas; Oppeboen, Mari; Pearl, Phillip L.; Perez, Belen; Pons, Roser; Rygiel, Agnieszka Magdalena; Shien, Tan Ee; Spaull, Robert; Sykut-Cegielska, Jolanta; Tabarki, Brahim; Tangeraas, Trine; Thoeny, Beat; Wassenberg, Tessa; Wen, Yongxin; Yakob, Yusnita; Yin, Jasmine Goh Chew; Zeman, Jiri; Blau, Nenad
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收藏BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screeningBCKDK缺乏症: 一种可治疗的神经发育疾病,适合新生儿筛查
Tangeraas, Trine; Constante, Juliana R.; Backe, Paul Hoff; Oyarzabal, Alfonso; Neugebauer, Julia; Weinhold, Natalie; Boemer, Francois; Debray, Francois G.; Ozturk-Hism, Burcu; Evren, Gumus; Tuba, Eminoglu F.; Ummuhan, Oncul; Footitt, Emma; Davison, James; Martinez, Caroline; Bueno, Clarissa; Machado, Irene; Rodriguez-Pombo, Pilar; Al-Sannaa, Nouriya; de los Santos, Mariela; Muchart Lopez, Jordi; Ozturkmen-Akay, Hatice; Karaca, Meryem; Tekin, Mustafa; Pajares, Sonia; Ormazabal, Aida; Stoway, Stephanie D.; Artuch, Rafael; Dixon, Marjorie; Morkrid, Lars; Garcia-Cazorla, Angeles
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收藏Three-Country Snapshot of Ornithine Transcarbamylase Deficiency
Seker Yilmaz, Berna; Baruteau, Julien; Arslan, Nur; Aydin, Halil Ibrahim; Barth, Magalie; Bozaci, Ayse Ergul; Brassier, Anais; Canda, Ebru; Cano, Aline; Chronopoulou, Efstathia; Connolly, Grainne M.; Damaj, Lena; Dawson, Charlotte; Dobbelaere, Dries; Douillard, Claire; Eminoglu, Fatma Tuba; Erdol, Sahin; Ersoy, Melike; Fang, Sherry; Feillet, Francois; Gokcay, Gulden; Goksoy, Emine; Gorce, Magali; Inci, Asli; Kadioglu, Banu; Kardas, Fatih; Kasapkara, Cigdem Seher; Kilic Yildirim, Gonca; Kor, Deniz; Kose, Melis; Marelli, Cecilia; Mundy, Helen; O'Sullivan, Siobhan; Ozturk Hismi, Burcu; Ramachandran, Radha; Roubertie, Agathe; Sanlilar, Mehtap; Schiff, Manuel; Sreekantam, Srividya; Stepien, Karolina M.; Uzun Unal, Ozlem; Yildiz, Yilmaz; Zubarioglu, Tanyel; Gissen, Paul
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收藏Patients with cerebrotendinous xanthomatosis diagnosed with diverse multisystem involvement被诊断为多种多系统受累的脑膜黄瘤病患者
Kisa, Pelin Teke; Yildirim, Gonca Kilic; Hismi, Burcu Ozturk; Dorum, Sevil; Kusbeci, Ozge Yilmaz; Topak, Ali; Baydan, Figen; Celik, Fatma Nazli Durmaz; Gorukmez, Orhan; Gulten, Zumrut Arslan; Ekici, Arzu; Ozkan, Serhat; Yaman, Aylin; Arslan, Nur
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收藏Detection of biotinidase gene mutations in Turkish patients ascertained by newborn and family screening
Karaca, Mehmet; Ozgul, Riza Koksal; Unal, Ozlem; Yucel-Yilmaz, Didem; Kilic, Mustafa; Hismi, Burcu; Tokatli, Aysegul; Coskun, Turgay; Dursun, Ali; Sivri, Hatice Serap
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收藏Recurrence of carbamoyl phosphate synthetase 1 (CPS1) deficiency in Turkish patients: Characterization of a founder mutation by use of recombinant CPS1 from insect cells expression
Hu, Liyan; Diez-Fernandez, Carmen; Ruefenacht, Veronique; Hismi, Burcu Ozturk; Unal, Ozlem; Soyucen, Erdogan; Coker, Mahmut; Bayraktar, Bilge Tanyeri; Gunduz, Mehmet; Kiykim, Ertugrul; Olgac, Asburce; Perez-Tur, Jordi; Rubio, Vicente; Haeberle, Johannes
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收藏A Truncating Mutation in SERPINB6 Is Associated with Autosomal-Recessive Nonsyndromic Sensorineural Hearing Loss
Sirmaci, Asli; Erbek, Seyra; Price, Justin; Huang, Mingqian; Duman, Duygu; Cengiz, F. Basak; Bademci, Gueney; Tokgoz-Yilmaz, Suna; Hismi, Burcu; Ozdag, Hilal; Ozturk, Banu; Kulaksizoglu, Sevsen; Yildirim, Erkan; Kokotas, Haris; Grigoriadou, Maria; Petersen, Michael B.; Shahin, Hashem; Kanaan, Moien; King, Mary-Claire; Chen, Zheng-Yi; Blanton, Susan H.; Liu, Xue Z.; Zuchner, Stephan; Akar, Nejat; Tekin, Mustafa
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收藏Homozygous mutations in fibroblast growth factor 3 are associated with a new form of syndromic deafness characterized by inner ear agenesis, microtia, and microdontia
Tekin, Mustafa; Hismi, Burcu Ozturk; Fitoz, Suat; Ozdag, Hilal; Cengiz, Filiz Basak; Sirmaci, Asli; Aslan, Idil; Inceoglu, Bora; Yuksel-Konuk, E. Berrin; Yilmaz, Seda Tasir; Yasun, Oztan; Akar, Nejat
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