Detalhe da pesquisa
1.
Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study.
J Med Genet
; 54(4): 288-296, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27834756
2.
Host conditioning and rejection monitoring in hepatocyte transplantation in humans.
J Hepatol
; 66(5): 987-1000, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28027971
3.
Blood ammonia and glutamine as predictors of hyperammonemic crises in patients with urea cycle disorder.
Genet Med
; 17(7): 561-8, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25503497
4.
Convergent patterns of association between phenylalanine hydroxylase variants and schizophrenia in four independent samples.
Am J Med Genet B Neuropsychiatr Genet
; 150B(4): 560-9, 2009 Jun 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-18937293
5.
REMOVED: Short-chain acyl-CoA dehydrogenase gene mutation (319 C>T) presents with clinical heterogeneity and is candidate founder mutation in Ashkenazi Jewish population.
Mol Genet Metab
; 2007 Jan 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-17234443
6.
2-methylbutyryl-CoA dehydrogenase deficiency in Hmong infants identified by expanded newborn screen.
WMJ
; 106(1): 12-5, 2007 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-17393751
7.
The Role of ARF6 in Biliary Atresia.
PLoS One
; 10(9): e0138381, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26379158