The frequency of Duchenne muscular dystrophy/Becker muscular dystrophy and Pompe disease in children with isolated transaminase elevation: results from the observational VICTORIA study

Autor: Aydan Kansu, Zarife Kuloglu, Gökhan Tümgör, Didem Gülcü Taşkın, Buket Dalgıç, Gönül Çaltepe, Kaan Demirören, Güzide Doğan, Ceyda Tuna Kırsaçlıoğlu, Duran Arslan, İshak Abdurrahman Işık, Hülya Demir, Özlem Bekem, Yasin Şahin, Nevzat Aykut Bayrak, Mukadder Ayşe Selimoğlu, Sibel Yavuz, İbrahim Ethem Taşkaya, Derya Altay, the VICTORIA Study Group, Ayşegül Bükülmez, Arzu Meltem Demir, Yavuz Tokgöz, Zarife Kuloğlu, Hasret Ayyıldız, Günsel Kutluk, Meryem Keçeli Başaran, Oya Balcı Sezer, Tanju Başarır Özkan, Taner Özgür, Gonca Handan Üstündağ, Eda Somuncu, Ali İşlek, Ferda Özbay Hoşnut, Gülseren Evirgen Şahin, Yaşar Doğan, Uğur Deveci, Kamercan Ceylan, Ahmet Baştürk, Necati Balamtekin, Melike Arslan, Hayriye Hızarcıoğlu Gülşen, Atakan Comba, İlknur Varol, Sebahat Çam, Eylem Sevinç, Erkan Doğan, Murat Çakır, Burcu Güven, Suna Selbuz, Hacer Fulya Gülerman, Zeynep Arslan, Ayşen Uncuoğlu, Neslihan Gürcan Kaya, Deniz Ertem, Engin Tutar, Burcu Volkan, Yusuf Usta, Asuman Nur Karhan, Halil Kocamaz, Tuğba Gürsoy Koca, Fatih Ünal, Birol Öztürk, Cansu Altuntaş, Halil Haldun Emiroğlu, Meltem Gümüş, Mustafa Akçam, Yeliz Çağan Appak, Betül Aksoy, Elif Sağ, Ulaş Emre Akbulut, Cahit Barış Erdur, Nafiye Urgancı, Ayşe Merve Usta, Coşkun Çeltik, Nelgin Gerenli

Publikováno v: Frontiers in Pediatrics, Vol 11 (2023)

IntroductionElevated transaminases and/or creatine phosphokinase can indicate underlying muscle disease. Therefore, this study aims to determine the frequency of Duchenne muscular dystrophy/Becker muscular dystrophy (DMD/BMD) in male children and Pom

Externí odkaz: https://doaj.org/article/017a5b24b62a45e585ae24595455e694

A novel etiologic factor of highly elevated cholestanol levels: progressive familial intrahepatic cholestasis

Autor: Özlem Ünal Uzun, Mehmet Gündüz, Ayşen Uncuoğlu, Aynur Küçükçongar Yavaş, Büşra Çavdarlı

BackgroundProgressive familial intrahepatic cholestasis type 3 (PFIC3) is an uncommon cholestatic liver disease caused by mutations in the ATP binding cassette subfamily B member 4 (ABCB4) gene. Although PFIC3 is frequently identified in childhood, A

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a54e0a4cf468ab4370742f96ac8a7362
https://hdl.handle.net/20.500.12619/71380

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