Detalhe da pesquisa
1.
Insight on molecular pathogenesis and pharmacochaperoning potential in phosphomannomutase 2 deficiency, provided by novel human phosphomannomutase 2 structures.
J Inherit Metab Dis
; 45(2): 318-333, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34859900
2.
Generation and characterization of a human iPSC line (UAMi005-A) from a patient with nonketotic hyperglycinemia due to mutations in the GLDC gene.
Stem Cell Res
; 39: 101503, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31349202
3.
Generation and characterization of a human iPSC line (UAMi004-A) from a patient with propionic acidemia due to defects in the PCCB gene.
Stem Cell Res
; 38: 101469, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31132581
4.
Generation and characterization of a human iPSC line from a patient with propionic acidemia due to defects in the PCCA gene.
Stem Cell Res
; 23: 173-177, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28925364
5.
Corrigendum to "Generation and characterization of a human iPSC line (UAMi004-A) from a patient with propionic acidemia due to defects in the PCCB gene" [Stem Cell Research, Volume 38, July 2019, 101469].
Stem Cell Res
; 39: 101513, 2019 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-31365893