Detalhe da pesquisa
1.
Biomarkers to predict disease progression and therapeutic response in isolated methylmalonic acidemia.
J Inherit Metab Dis
; 46(4): 554-572, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37243446
2.
1-13C-propionate breath testing as a surrogate endpoint to assess efficacy of liver-directed therapies in methylmalonic acidemia (MMA).
Genet Med
; 23(8): 1522-1533, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33820958
3.
Correction to: 1-13C-propionate breath testing as a surrogate endpoint to assess efficacy of liver-directed therapies in methylmalonic acidemia (MMA).
Genet Med
; 23(11): 2233, 2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-33972722
4.
Lipodystrophy in methylmalonic acidemia associated with elevated FGF21 and abnormal methylmalonylation.
JCI Insight
; 9(4)2024 Feb 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38271099