Detalhe da pesquisa
1.
Expanding the genetic and phenotypic spectrum of branched-chain amino acid transferase 2 deficiency.
J Inherit Metab Dis
; 42(5): 809-817, 2019 09.
Artigo
Inglês
| MEDLINE | ID: mdl-31177572
2.
IDUA mutational profile and genotype-phenotype relationships in UK patients with Mucopolysaccharidosis Type I.
Hum Mutat
; 38(11): 1555-1568, 2017 11.
Artigo
Inglês
| MEDLINE | ID: mdl-28752568
3.
Dynamic inter-domain transformations mediate the allosteric regulation of human 5, 10-methylenetetrahydrofolate reductase.
Nat Commun
; 15(1): 3248, 2024 Apr 15.
Artigo
Inglês
| MEDLINE | ID: mdl-38622112
4.
Novel Starting Points for Human Glycolate Oxidase Inhibitors, Revealed by Crystallography-Based Fragment Screening.
Front Chem
; 10: 844598, 2022.
Artigo
Inglês
| MEDLINE | ID: mdl-35601556
5.
Naturally occurring cobalamin (B12) analogs can function as cofactors for human methylmalonyl-CoA mutase.
Biochimie
; 183: 35-43, 2021 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-32659443
6.
Fragment Screening Reveals Starting Points for Rational Design of Galactokinase 1 Inhibitors to Treat Classic Galactosemia.
ACS Chem Biol
; 16(4): 586-595, 2021 04 16.
Artigo
Inglês
| MEDLINE | ID: mdl-33724769
7.
Succinyl-CoA:3-oxoacid coenzyme A transferase (SCOT) deficiency: A rare and potentially fatal metabolic disease.
Biochimie
; 183: 55-62, 2021 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-33596448
8.
Substrate reduction therapy for inborn errors of metabolism.
Emerg Top Life Sci
; 3(1): 63-73, 2019 Mar 29.
Artigo
Inglês
| MEDLINE | ID: mdl-33523197
9.
Arginine does not rescue p.Q188R mutation deleterious effect in classic galactosemia.
Orphanet J Rare Dis
; 13(1): 212, 2018 11 26.
Artigo
Inglês
| MEDLINE | ID: mdl-30477550