author = { Slavin, T. P. AND Zaidi, S. J. AND Neal, C. AND Nishikawa, B. AND Seaver, L. H. },

title = { JIMD Reports: Clinical Presentation and Positive Outcome of Two Siblings with Holocarboxylase Synthetase Deficiency Caused by a Homozygous L216R Mutation },

publisher = {Springer International Publishing},

isbn = {2192-8312},

isbn = {2192-8304},

year = {2013},

url = { http://slubdd.de/katalog?TN_libero_mab2 }