Detalhe da pesquisa
1.
The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.
Brain;
146(8): 3273-3288, 2023 08 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36757831
2.
Early initiation of enzyme replacement therapy in classical Fabry disease normalizes biomarkers in clinically asymptomatic pediatric patients.
Mol Genet Metab Rep;
21: 100530, 2019 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31660293