Detalhe da pesquisa
1.
KIF5A mutations cause an infantile onset phenotype including severe myoclonus with evidence of mitochondrial dysfunction.
Ann Neurol
; 80(4): 633-7, 2016 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-27463701
2.
Mannose treatment improves immune deficiency in mannose phosphate isomerase-congenital disorder of glycosylation: case report and review of literature.
Ther Adv Rare Dis
; 3: 26330040221091283, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-37180423