Detalhe da pesquisa
1.
Molecular and biochemical characterization of a unique mutation in CCS, the human copper chaperone to superoxide dismutase.
Hum Mutat
; 33(8): 1207-15, 2012 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-22508683
2.
Molecular correlates of epilepsy in early diagnosed and treated Menkes disease.
J Inherit Metab Dis
; 33(5): 583-9, 2010 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-20652413
3.
Increased frequency of congenital heart defects in Menkes disease.
Clin Dysmorphol
; 21(2): 59-63, 2012 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-22134099
4.
Diagnosis of copper transport disorders.
Curr Protoc Hum Genet
; Chapter 17: Unit17.9, 2011 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-21735378