PUS1 Geninde Yeni Mutasyon Saptanan Miyopati, Laktik Asidoz, Sideroblastik Anemi (MLASA) Olgusu
Çiğdem Seher Kasapkara1, Leyla Tümer1, Nadia Zanetti2, Fatih Ezgü1, Eleonora Lamantea2, Massimo Zeviani31Gazi University Faculty of Medicine, Division of Metabolism, Ankara, Turkey2Fondazione IRCCS Carlo Besta, Molecular Neurogenetics Unit, Milan, Italy
3Fondazione IRCCS Carlo Besta, Molecular Neurogenetics Unit, Milan, Italy; Medical Research Council, Mitochondrial Biology Unit, Cambridge, United Kingdom
Anahtar Kelimeler: Miyopati, Laktik asidoz, Sideroblastik anemi
A Myopathy, Lactic Acidosis, Sideroblastic Anemia (MLASA) Case Due to a Novel PUS1 Mutation
Çiğdem Seher Kasapkara1, Leyla Tümer1, Nadia Zanetti2, Fatih Ezgü1, Eleonora Lamantea2, Massimo Zeviani31Gazi University Faculty of Medicine, Division of Metabolism, Ankara, Turkey2Fondazione IRCCS Carlo Besta, Molecular Neurogenetics Unit, Milan, Italy
3Fondazione IRCCS Carlo Besta, Molecular Neurogenetics Unit, Milan, Italy; Medical Research Council, Mitochondrial Biology Unit, Cambridge, United Kingdom
Keywords: Myopathy, Lactic acidosis, Sideroblastic anemia
Çiğdem Seher Kasapkara, Leyla Tümer, Nadia Zanetti, Fatih Ezgü, Eleonora Lamantea, Massimo Zeviani. A Myopathy, Lactic Acidosis, Sideroblastic Anemia (MLASA) Case Due to a Novel PUS1 Mutation. . 2017; 34(4): 376-377
Sorumlu Yazar: Çiğdem Seher Kasapkara, Türkiye
Sorumlu Yazar: Çiğdem Seher Kasapkara, Türkiye
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