Detalhe da pesquisa
1.
ALG13-Congenital Disorder of Glycosylation (ALG13-CDG): Updated clinical and molecular review and clinical management guidelines.
Mol Genet Metab
; 142(2): 108472, 2024 Apr 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-38703411
2.
Defining the phenotype of PGAP3-congenital disorder of glycosylation; a review of 65 cases.
Mol Genet Metab
; 140(3): 107688, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37647829
3.
Long-term outcomes in ALG13-Congenital Disorder of Glycosylation.
Am J Med Genet A
; 191(6): 1626-1631, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36930724
4.
Neural and metabolic dysregulation in PMM2-deficient human in vitro neural models.
Cell Rep
; 43(3): 113883, 2024 Mar 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-38430517
5.
Development of a multiomics model for identification of predictive biomarkers for COVID-19 severity: a retrospective cohort study.
Lancet Digit Health
; 4(9): e632-e645, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35835712
6.
Substance Use Disorder in the COVID-19 Pandemic: A Systematic Review of Vulnerabilities and Complications.
Pharmaceuticals (Basel)
; 13(7)2020 Jul 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-32708495