Detalhe da pesquisa
1.
Aspartylglycosamine is a biomarker for NGLY1-CDDG, a congenital disorder of deglycosylation.
Mol Genet Metab
; 127(4): 368-372, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31311714
2.
Efficacy and Safety of Vamorolone Over 48 Weeks in Boys With Duchenne Muscular Dystrophy: A Randomized Controlled Trial.
Neurology
; 102(5): e208112, 2024 Mar 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38335499
3.
Use of dexamethasone in acute rhabdomyolysis in LPIN1 deficiency.
Mol Genet Metab Rep
; 35: 100961, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-36941958
4.
Efficacy and Safety of Vamorolone vs Placebo and Prednisone Among Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial.
JAMA Neurol
; 79(10): 1005-1014, 2022 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36036925