Detalhe da pesquisa
1.
Two Novel Homozygous Mutations in Phosphoglucomutase 3 Leading to Severe Combined Immunodeficiency, Skeletal Dysplasia, and Malformations.
J Clin Immunol
; 41(5): 958-966, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33534079
2.
Characterization of mammalian sedoheptulokinase and mechanism of formation of erythritol in sedoheptulokinase deficiency.
FEBS Lett
; 582(23-24): 3330-4, 2008 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-18775706
3.
Identification of the gene encoding hydroxyacid-oxoacid transhydrogenase, an enzyme that metabolizes 4-hydroxybutyrate.
FEBS Lett
; 580(9): 2347-50, 2006 Apr 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-16616524