Detalhe da pesquisa
1.
Characteristics and outcomes of patients with formiminoglutamic aciduria detected through newborn screening.
J Inherit Metab Dis
; 42(1): 140-146, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30740726
2.
Allelic spectrum of formiminotransferase-cyclodeaminase gene variants in individuals with formiminoglutamic aciduria.
Mol Genet Genomic Med
; 5(6): 795-799, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29178637