TY  - GEN
AU  - Funghini,S
AU  - Thusberg,J
AU  - Spada,M
AU  - Gasperini,S
AU  - Parini,R
AU  - Ventura,L
AU  - Meli,C
AU  - De Cosmo,L
AU  - Sibilio,M
AU  - Mooney,S D
AU  - Guerrini,R
AU  - Donati,M A
AU  - Morrone,A
TI  - Carbamoyl phosphate synthetase 1 deficiency in Italy: clinical and genetic findings in a heterogeneous cohort
SN  - 1879-0038
PY  - 2012///0330
KW  - Adolescent
KW  - Adult
KW  - Carbamoyl-Phosphate Synthase (Ammonia)
KW  - genetics
KW  - Carbamoyl-Phosphate Synthase I Deficiency Disease
KW  - diagnosis
KW  - Child, Preschool
KW  - Cohort Studies
KW  - Female
KW  - Humans
KW  - Infant
KW  - Infant, Newborn
KW  - Italy
KW  - Male
KW  - Mutation
N1  - Publication Type: Journal Article
UR  - https://doi.org/10.1016/j.gene.2011.11.052
ER  -