TY  - JOUR
U1  - Zeitschriftenartikel, wissenschaftlich - begutachtet (reviewed)
A1  - Ofman, Rob
A1  - Ruiter, Jos P. N.
A1  - Feenstra, Marike
A1  - Duran, Marinus
A1  - Poll-The, Bwee Tien
A1  - Zschocke, Johannes
A1  - Ensenauer, Regina
A1  - Lehnert, Willy
A1  - Sass, Jörn Oliver
A1  - Sperl, Wolfgang
A1  - Wanders, Ronald J. A.
T1  - 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH2 gene
JF  - The American Journal of Human Genetics
UR  - https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1180283/
SN  - 0002-9297
SS  - 0002-9297
U6  - https://doi.org/10.1086/375116
DO  - https://doi.org/10.1086/375116
PM  - 12696021
VL  - 72
IS  - 5
SP  - 1300
EP  - 1307
PB  - American Society of Human Genetics
ER  -