Detalhe da pesquisa
1.
Triheptanoin for the treatment of long-chain fatty acid oxidation disorders: Final results of an open-label, long-term extension study.
J Inherit Metab Dis
; 46(5): 943-955, 2023 09.
Artigo
Inglês
| MEDLINE | ID: mdl-37276053
2.
Response to triheptanoin therapy in critically ill patients with LC-FAOD: Report of patients treated through an expanded access program.
Mol Genet Metab
; 136(2): 152-162, 2022 06.
Artigo
Inglês
| MEDLINE | ID: mdl-35459555
3.
Growth patterns in patients with mucopolysaccharidosis VII.
Mol Genet Metab Rep
; 36: 100987, 2023 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-37415957
4.
Disease monitoring programs of rare genetic diseases: transparent data sharing between academic and commercial stakeholders.
Orphanet J Rare Dis
; 16(1): 141, 2021 03 20.
Artigo
Inglês
| MEDLINE | ID: mdl-33743771