Detalhe da pesquisa
1.
D-mannose as a new therapy for fucokinase deficiency-related congenital disorder of glycosylation (FCSK-CDG).
Mol Genet Metab
; 142(2): 108488, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38735264
2.
Fatal COVID-19 infection in a patient with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: A case report.
JIMD Rep
; 56(1): 40-45, 2020 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-33204595