Clinical presentation and outcome in a series of 32 patients with 2-methylacetoacetyl-coenzyme A thiolase (B-ketothiolase, MAT) deficiency.
Conference paper > Summary Text · 2017
Authors: Jörn Oliver SASS, Robert Niklas SCHMİTT, Sonja Marina SCHLATTER, Corinne GEMPERLE-BRİTSCHGİ, Volker BERG, Mahmut ÇOKER, Anibh M DAS, Terry GJ DERKS, GÜLDEN FATMA GÖKÇAY, Sema KALKAN UÇAR, Vassiliki KONSTANTOPOULOU, Korenke G CHRİSTOPH, Amelie Sophia LOTZ-HAVLA, Andrea SCHLUNE, Christian STAUFNER, Christel TRAN, Gepke VİSSER, Karl Otfried SCHWAB, Toshiyuki FUKAO, MEHMET CİHAN BALCI, SC GRÜNERT
13th International Congress of Inborn Errors of Metabolism, Rio de Janeiro, Brazil, Journal of Inborn Errors of Metabolism and Screening, special supplement with the abstracts, International, Poster, Summary Text, 2017-2017, vol 5