TY  - GEN
AU  - Jaeken,Jaak
AU  - Lefeber,Dirk
AU  - Matthijs,Gert
TI  - Clinical utility gene card for: Phosphomannose isomerase deficiency
SN  - 1476-5438
PY  - 2015///0413
KW  - Congenital Disorders of Glycosylation
KW  - diagnosis
KW  - Genetic Testing
KW  - Humans
KW  - Mannose-6-Phosphate Isomerase
KW  - deficiency
KW  - Mutation
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1038/ejhg.2014.29
ER  -