Detalhe da pesquisa
1.
Phenotypic and genetic spectra of galactose mutarotase deficiency: A nationwide survey conducted in Japan.
Genet Med
; : 101165, 2024 May 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38762772
2.
Metabolic and pathologic profiles of human LSS deficiency recapitulated in mice.
PLoS Genet
; 16(2): e1008628, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32101538
3.
A method for phenylalanine self-monitoring using phenylalanine ammonia-lyase and a pre-existing portable ammonia detection system.
Mol Genet Metab Rep
; 35: 100970, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-37020603
4.
Case Report: Infantile-Onset Fulminant Type 1 Diabetes Mellitus Caused by Novel Compound Heterozygous LRBA Variants.
Front Immunol
; 12: 677572, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33912197