Detalhe da pesquisa
1.
OTC deficiency in females: Phenotype-genotype correlation based on a 130-family cohort.
J Inherit Metab Dis
; 44(5): 1235-1247, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34014569
2.
Topography of brain damage in metabolic hypoglycaemia is determined by age at which hypoglycaemia occurred.
Dev Med Child Neurol
; 55(2): 162-166, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23205874
3.
Dodecyl creatine ester-loaded nanoemulsion as a promising therapy for creatine transporter deficiency.
Nanomedicine (Lond)
; 14(12): 1579-1593, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31038003
4.
Functional imaging of the pancreas: the role of [18F]fluoro-L-DOPA PET in the diagnosis of hyperinsulinism of infancy.
Endocr Dev
; 12: 55-66, 2007.
Artigo
em Inglês
| MEDLINE | ID: mdl-17923769