TY  - GEN
AU  - Cohen,L H
AU  - Vamos,E
AU  - Heinrichs,C
AU  - Toppet,M
AU  - Courtens,W
AU  - Kumps,A
AU  - Mardens,Y
AU  - Carlsson,B
AU  - Grillner,L
AU  - Larsson,A
TI  - Growth failure, encephalopathy, and endocrine dysfunctions in two siblings, one with 5-oxoprolinase deficiency
SN  - 0340-6199
PY  - 1998///0210
KW  - Brain Diseases
KW  - enzymology
KW  - Consanguinity
KW  - Endocrine System Diseases
KW  - Female
KW  - Growth Disorders
KW  - Humans
KW  - Infant
KW  - Metabolism, Inborn Errors
KW  - Phenotype
KW  - Pyroglutamate Hydrolase
KW  - deficiency
KW  - Syndrome
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1007/s004310050746
ER  -