Detalhe da pesquisa
1.
Neurocognitive outcome and mental health in children with tyrosinemia type 1 and phenylketonuria: A comparison between two genetic disorders affecting the same metabolic pathway.
J Inherit Metab Dis
; 45(5): 952-962, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35722880
2.
A review of treatment modalities in gyrate atrophy of the choroid and retina (GACR).
Mol Genet Metab
; 134(1-2): 96-116, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34340878
3.
Monitoring phenylalanine concentrations in the follow-up of phenylketonuria patients: An inventory of pre-analytical and analytical variation.
JIMD Rep
; 58(1): 70-79, 2021 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-33728249
4.
Emotional and behavioral problems, quality of life and metabolic control in NTBC-treated Tyrosinemia type 1 patients.
Orphanet J Rare Dis
; 14(1): 285, 2019 12 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31801588