3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals.
Orphanet Journal Of Rare Diseases
Grünert, Sarah C SC; Stucki, Martin M; Morscher, Raphael J RJ; Suormala, Terttu T; Bürer, Celine C; Burda, Patricie P; Christensen, Ernst E; Ficicioglu, Can C; Herwig, Jürgen J; Kölker, Stefan S; Möslinger, Dorothea D; Pasquini, Elisabetta E; Santer, René R; Schwab, K Otfried KO; Wilcken, Bridget B; Fowler, Brian B; Yue, Wyatt W WW; Baumgartner, Matthias R MR
Publication Date: 2012-05-29
Variant appearance in text: MCCC1: 1193_1194delTG; V398Gfs*19