@article{SassMohrOlbrichetal.2006, author = {J{\"o}rn Oliver Sass and Verena Mohr and Heike Olbrich and Udo Engelke and Judit Horvath and Manfred Fliegauf and Niki Tomas Loges and Susanne Schweitzer-Krantz and Ralf Moebus and Polly Weiler and Andreas Kispert and Andrea Superti-Furga and Ron A. Wevers and Heymut Omran}, title = {Mutations in ACY1, the gene encoding aminoacylase 1, cause a novel inborn error of metabolism}, series = {The American Journal of Human Genetics}, volume = {78}, number = {3}, publisher = {American Society of Human Genetics}, issn = {0002-9297}, doi = {10.1086/500563}, pages = {401 -- 409}, year = {2006}, language = {en} }