Detalhe da pesquisa
1.
PAICS deficiency, a new defect of de novo purine synthesis resulting in multiple congenital anomalies and fatal outcome.
Hum Mol Genet
; 28(22): 3805-3814, 2019 11 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31600779
2.
Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients.
J Inherit Metab Dis
; 39(2): 243-52, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26475597
3.
A novel RNASEH2B splice site mutation responsible for Aicardi-Goutieres syndrome in the Faroe Islands.
Acta Paediatr
; 101(11): e509-13, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22882256
4.
Tocilizumab for the Treatment of Mevalonate Kinase Deficiency.
Case Rep Pediatr
; 2018: 3514645, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30225156
5.
A Faroese founder variant in TBCD causes early onset, progressive encephalopathy with a homogenous clinical course.
Eur J Hum Genet
; 26(10): 1512-1520, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29921875
6.
Dystonia and deafness due to SUCLA2 defect; Clinical course and biochemical markers in 16 children.
Mitochondrion
; 9(6): 438-42, 2009 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-19666145
7.
[Three congenital metabolic diseases in the Faeroe Islands. Incidence, clinical and molecular genetic characteristics of Faeroese children with glycogen storage disease type IIIA, carnitine transporter deficiency and holocarboxylase synthetase deficiency]. / Tre medfødte metaboliske sygdomme på Faerøerne. Incidens, klinisk og molekylaergenetisk karakteristik af faeroske born med glykogen transportdefekt type IIIA, karnitintransporterdefekt og holocarboxylasesyntetasedefekt.
Ugeskr Laeger
; 168(7): 667-70, 2006 Feb 13.
Artigo
em Da
| MEDLINE | ID: mdl-16494802