TY  - JOUR
U1  - Zeitschriftenartikel, wissenschaftlich - begutachtet (reviewed)
A1  - Sass, Jörn Oliver
A1  - Mohr, Verena
A1  - Olbrich, Heike
A1  - Engelke, Udo
A1  - Horvath, Judit
A1  - Fliegauf, Manfred
A1  - Loges, Niki Tomas
A1  - Schweitzer-Krantz, Susanne
A1  - Moebus, Ralf
A1  - Weiler, Polly
A1  - Kispert, Andreas
A1  - Superti-Furga, Andrea
A1  - Wevers, Ron A.
A1  - Omran, Heymut
T1  - Mutations in ACY1, the gene encoding aminoacylase 1, cause a novel inborn error of metabolism
JF  - The American Journal of Human Genetics
SN  - 0002-9297
SS  - 0002-9297
U6  - https://doi.org/10.1086/500563
DO  - https://doi.org/10.1086/500563
PM  - 16465618
VL  - 78
IS  - 3
SP  - 401
EP  - 409
PB  - American Society of Human Genetics
ER  -