@article{OfmanRuiterFeenstraetal.2003, author = {Ofman, Rob and Ruiter, Jos P. N. and Feenstra, Marike and Duran, Marinus and Poll-The, Bwee Tien and Zschocke, Johannes and Ensenauer, Regina and Lehnert, Willy and Sass, J{\"o}rn Oliver and Sperl, Wolfgang and Wanders, Ronald J. A.}, title = {2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH2 gene}, journal = {The American Journal of Human Genetics}, volume = {72}, number = {5}, issn = {0002-9297}, doi = {10.1086/375116}, url = {https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1180283/}, institution = {Institut f{\"u}r funktionale Gen-Analytik (IFGA)}, pages = {1300 -- 1307}, year = {2003}, language = {en} }