Detalhe da pesquisa
1.
Impact of citrulline substitution on clinical outcome after liver transplantation in carbamoyl phosphate synthetase 1 and ornithine transcarbamylase deficiency.
J Inherit Metab Dis
; 47(2): 220-229, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38375550
2.
Subjective and polysomnographic evaluation of sleep in mitochondrial optic neuropathies.
J Sleep Res
; 30(2): e13051, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32524698
3.
Case report: A rare variant m.4135T>C in the MT-ND1 gene leads to Leber hereditary optic neuropathy and altered respiratory chain supercomplexes.
Front Genet
; 14: 1182288, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37274791
4.
The Phenotypic Spectrum of 47 Czech Patients with Single, Large-Scale Mitochondrial DNA Deletions.
Brain Sci
; 10(11)2020 Oct 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-33105723