Detalhe da pesquisa
1.
Endovascular aneurysm repair of aortoiliac aneurysms with an iliac side-branched stent graft: studying the morphological applicability of the Cook device.
Eur J Vasc Endovasc Surg
; 49(3): 283-8, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25661450
2.
Lower limb salvage: indication and decision making for replantation, revascularisation and amputation.
Acta Chir Orthop Traumatol Cech
; 81(1): 9-21, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24755062
3.
Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene.
Nat Genet
; 17(2): 190-3, 1997 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-9326940
4.
Pharmacologic rescue of lethal seizures in mice deficient in succinate semialdehyde dehydrogenase.
Nat Genet
; 29(2): 212-6, 2001 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-11544478
5.
A lymphoblast model for IDH2 gain-of-function activity in d-2-hydroxyglutaric aciduria type II: novel avenues for biochemical and therapeutic studies.
Biochim Biophys Acta
; 1812(11): 1380-4, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21889589
6.
Guanidinoacetate methyltransferase deficiency: first steps to newborn screening for a treatable neurometabolic disease.
Mol Genet Metab
; 107(3): 433-7, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23031365
7.
Cellular hypomethylation is associated with impaired nitric oxide production by cultured human endothelial cells.
Amino Acids
; 42(5): 1903-11, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-21614558
8.
4-Hydroxybutyric aciduria associated with catheter usage: a diagnostic pitfall in the identification of SSADH deficiency.
Mol Genet Metab
; 102(2): 216-7, 2011 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-20965758
9.
Elevated concentrations of sedoheptulose in bloodspots of patients with cystinosis caused by the 57-kb deletion: implications for diagnostics and neonatal screening.
Mol Genet Metab
; 102(3): 339-42, 2011 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21195649
10.
Clinical features and X-inactivation in females heterozygous for creatine transporter defect.
Clin Genet
; 79(3): 264-72, 2011 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-20528887
11.
N-acetylaspartylglutamate in CNS hypomyelination.
Neuropediatrics
; 42(2): 74-7, 2011 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-21544765
12.
Comparative genomics of aldehyde dehydrogenase 5a1 (succinate semialdehyde dehydrogenase) and accumulation of gamma-hydroxybutyrate associated with its deficiency.
Hum Genomics
; 3(2): 106-20, 2009 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-19164088
13.
The screening of SLC6A8 deficiency among Estonian families with X-linked mental retardation.
J Inherit Metab Dis
; 33 Suppl 3: S5-11, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24137762
14.
Use of a long-chain triglyceride-restricted/medium-chain triglyceride-supplemented diet in a case of malonyl-CoA decarboxylase deficiency with cardiomyopathy.
J Inherit Metab Dis
; 33 Suppl 3: S253-6, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-20549361
15.
Clinical, radiological and genetic aspects of leukodystrophies.
Ideggyogy Sz
; 63(7-8): 266-73, 2010 Jul 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-20812455
16.
Low elevation of Svalbard glaciers drives high mass loss variability.
Nat Commun
; 11(1): 4597, 2020 09 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-32929066
17.
Measurement of D: -2-hydroxyglutarate dehydrogenase activity in cell homogenates derived from D: -2-hydroxyglutaric aciduria patients.
J Inherit Metab Dis
; 32(2): 264-8, 2009 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-19283509
18.
Sepiapterin reductase deficiency in a 2-year-old girl with incomplete response to treatment during short-term follow-up.
J Inherit Metab Dis
; 32 Suppl 1: S5-10, 2009 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-19130291
19.
Succinic semialdehyde dehydrogenase deficiency: lessons from mice and men.
J Inherit Metab Dis
; 32(3): 343-52, 2009 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-19172412
20.
Development and implementation of a novel assay for L-2-hydroxyglutarate dehydrogenase (L-2-HGDH) in cell lysates: L-2-HGDH deficiency in 15 patients with L-2-hydroxyglutaric aciduria.
J Inherit Metab Dis
; 32(6): 713, 2009 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-19821142