@article{f0f377547c924c05bcb03de7bbcf6b5b,
title = "3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals.",
keywords = "TANDEM MASS-SPECTROMETRY, DEVELOPMENTAL DELAY, METABOLIC STROKE, MCCB MUTATIONS, INBORN-ERRORS, NEWBORN, BIOTIN, RESPONSIVENESS, DIAGNOSIS, INFANT",
author = "Gr{\"u}nert, \{Sarah C\} and Martin Stucki and Morscher, \{Raphael Johannes\} and Terttu Suormala and Celine B{\"u}rer and Patricie Burda and Ernst Christensen and Can Ficicioglu and J{\"u}rgen Herwig and Stefan K{\"o}lker and Dorothea M{\"o}slinger and Elisabetta Pasquini and Ren{\'e} Santer and Schwab, \{K Otfried\} and Bridget Wilcken and Brian Fowler and Yue, \{Wyatt W\} and Baumgartner, \{Matthias R\}",
year = "2012",
doi = "10.1186/1750-1172-7-31",
language = "English",
volume = "7",
pages = "31",
journal = "ORPHANET JOURNAL OF RARE DISEASES",
issn = "1750-1172",
publisher = "Springer Nature",
}