Detalhe da pesquisa
1.
Squalene Synthase Deficiency: Clinical, Biochemical, and Molecular Characterization of a Defect in Cholesterol Biosynthesis.
Am J Hum Genet
; 103(1): 125-130, 2018 07 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29909962
2.
Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy.
Science
; 338(6105): 394-7, 2012 Oct 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-22956686