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.
Case report: Novel genotype of ALG2-CDG and confirmation of the heptasaccharide glycan (NeuAc-Gal-GlcNAc-Man2-GlcNAc2) as a specific diagnostic biomarker.
Front Genet
; 15: 1363558, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38770420
3.
Guillan-barre syndrome during COVID-19 pandemic: a case series from Syria.
Ann Med Surg (Lond)
; 85(6): 3166-3170, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-37363509
4.
Filamin C-Associated Nemaline Myopathy.
Neurology
; 102(10): e209477, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38657199