TMEM70 deficiency: long-term outcome of 48 patients

Magner, Martin; Dvorakova, Veronika; Tesarova, Marketa; Mazurova, Stella; Hansikova, Hana; Zahorec, Martin; Brennerova, Katarina; Bzduch, Vladimir; Spiegel, Ronen; Horovitz, Yoseph; Mandel, Hanna; EMİNOĞLU, FATMA; Mayr, Johannes; Koch, Johannes; Martinelli, Diego; Bertini, Enrico; Konstantopoulou, Vassiliki; Smet, Joel; Rahman, Shamima; Broomfield, Alexander; Stojanovic, Vesna; Dionisi-Vici, Carlo; van Coster, Rudy; Morava-Kozicz, Eva; Sperl, Wolfgang; Zeman, Jiri; Honzik, Tomas

doi:10.1007/s10545-014-9774-8

TMEM70 deficiency: long-term outcome of 48 patients

Atıf İçin Kopyala

Magner M., Dvorakova V., Tesarova M., Mazurova S., Hansikova H., Zahorec M., ...Daha Fazla

JOURNAL OF INHERITED METABOLIC DISEASE, cilt.38, sa.3, ss.417-426, 2015 (SCI-Expanded)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 38 Sayı: 3
Basım Tarihi: 2015
Doi Numarası: 10.1007/s10545-014-9774-8
Dergi Adı: JOURNAL OF INHERITED METABOLIC DISEASE
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.417-426
Ankara Üniversitesi Adresli: Evet

Özet

Objectives TMEM70 deficiency is the most common nuclear-encoded defect affecting the ATP synthase. In this multicentre retrospective study we characterise the natural history of the disease, treatment and outcome in 48 patients with mutations in TMEM70. Eleven centers from eight European countries, Turkey and Israel participated.