Detalhe da pesquisa
1.
Leigh syndrome in a patient with a novel C12orf65 pathogenic variant: case report and literature review.
Genet Mol Biol
; 43(2): e20180271, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32478789
2.
Impact of ERT and follow-up of 17 patients from the same family with a mild form of MPS II.
Clinics (Sao Paulo)
; 77: 100082, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35882106
3.
A New Mutation in IDS Gene Causing Hunter Syndrome: A Case Report.
Front Genet
; 10: 1383, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-32256517
4.
Lysosomal Acid Lipase Deficiency: Report of Five Cases across the Age Spectrum.
Case Rep Pediatr
; 2018: 4375434, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29527374
5.
Impact of ERT and follow-up of 17 patients from the same family with a mild form of MPS II
Clinics
; 77: 100082, 2022. tab, graf
Artigo
em Inglês
|
LILACS-Express
| ID: biblio-1404298