Detalhe da pesquisa
1.
A new method for the rapid diagnosis of protein N-linked congenital disorders of glycosylation.
J Proteome Res
; 12(7): 3471-9, 2013 Jul 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-23742123
2.
Cerebrospinal fluid ferritin level, a sensitive diagnostic test in late-presenting subarachnoid hemorrhage.
J Stroke Cerebrovasc Dis
; 20(6): 489-93, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-20719531
3.
Global serum glycoform profiling for the investigation of dystroglycanopathies & Congenital Disorders of Glycosylation.
Mol Genet Metab Rep
; 7: 55-62, 2016 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-27134828
4.
Cerebrospinal fluid total protein cannot reliably distinguish true subarachnoid haemorrhage from other causes of raised cerebrospinal fluid net bilirubin and net oxyhaemoglobin absorbances.
Ann Clin Biochem
; 51(Pt 6): 657-61, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-24847134
5.
Ectopic cerebrospinal-like fluid from retrobulbar cysts as a possible cause of pediatric retinal detachment associated with optic disc coloboma: new implications for management.
Arch Ophthalmol
; 130(8): 1065-7, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22893081
6.
Diagnosis of congenital disorders of glycosylation type-I using protein chip technology.
Proteomics
; 6(7): 2295-304, 2006 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-16552784
7.
A novel mutation (G233D) in the glycogen phosphorylase gene in a patient with hepatic glycogen storage disease and residual enzyme activity.
Mol Genet Metab
; 79(2): 142-5, 2003 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-12809646