Detalhe da pesquisa
1.
Does hyperphenylalaninemia induce brain glucose hypometabolism? Cerebral spinal fluid findings in treated adult phenylketonuric patients.
Mol Genet Metab
; 142(1): 108464, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38537426
2.
Kidney urinary biomarkers in patients with branched-chain amino acid and cobalamin metabolism defects.
J Inherit Metab Dis
; 46(6): 1078-1088, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37603032
3.
Targeted cerebrospinal fluid analysis for inborn errors of metabolism on an LC-MS/MS analysis platform.
J Inherit Metab Dis
; 43(4): 712-725, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31930732