Detalhe da pesquisa
1.
Structural characterization of two prototypical repressors of SorC family reveals tetrameric assemblies on DNA and mechanism of function.
Nucleic Acids Res
; 2024 Jun 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38842936
2.
ALG3-CDG: a patient with novel variants and review of the genetic and ophthalmic findings.
BMC Ophthalmol
; 21(1): 249, 2021 Jun 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34090370
3.
Impact of Newborn Screening and Early Dietary Management on Clinical Outcome of Patients with Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency and Medium Chain Acyl-CoA Dehydrogenase Deficiency-A Retrospective Nationwide Study.
Nutrients
; 13(9)2021 Aug 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-34578803