TY  - GEN
AU  - Almaghlouth,I A
AU  - Mohamed,J Y
AU  - Al-Amoudi,M
AU  - Al-Ahaidib,L
AU  - Al-Odaib,A
AU  - Alkuraya,F S
TI  - 5-Oxoprolinase deficiency: report of the first human OPLAH mutation
SN  - 1399-0004
PY  - 2012///1113
KW  - Amino Acid Metabolism, Inborn Errors
KW  - genetics
KW  - Base Sequence
KW  - Frameshift Mutation
KW  - Heterozygote
KW  - Humans
KW  - Infant
KW  - Male
KW  - Mutation
KW  - Pyroglutamate Hydrolase
KW  - deficiency
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1111/j.1399-0004.2011.01728.x
ER  -