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Revealing of metabolic alterations in primary fibroblasts of patients with Neurodegeneration with Brain Iron Accumulation - subtype MPAN
Biochimica et Biophysica Acta (BBA) - Molecular Basis of DiseaseAgata Wydrych, Barbara Pakula, Patrycja Jakubek, Justyna Janikiewicz, Aneta M. Dobosz, Agnieszka Cudna, Agnieszka Antos, Maciej Rydzewski, Maciej Cwyl, Mariola Popielarz, Karolina Pierzynowska, Lidia Gaffke, Zuzanna Cyske, Estera Rintz, Grzegorz Wegrzyn, Paolo Pinton, Werner J.H. Koopman, Marta Skowronska, Iwona Kurkowska-Jastrzebska, Agnieszka Dobrzyn, Magdalena Lebiedzinska-Arciszewska, Mariusz R. Wieckowski +21 moreopenaire +1 more sourceC19orf12 p. Thr11Met mutation is frequent among adult Turkish patients with MPAN.
2017 YALCIN, DE, SAKA TOPÇUOĞLU, ESEN, BONİFATİ, vincenzo, HANAĞASI, HAŞMET AYHAN, EMRE, murat, ELİBOL, BÜLENT, BİLGİÇ, BAŞAR, GÜLTEKİN, Murat, DİLER, YE, TUFEKCİOĞLU, zeynep, SUNTER, DE, QUADRİ, mario, DOĞU, OKAN, KALEAĞASI, ŞÜKRÜ HAKAN, KUİPERS, DE, GRAAFLAND, JE, ME, breedveld, SURMELİ, GE, OLGİATİ, Simone +18 moreopenaire +1 more source
