Detalhe da pesquisa
1.
Clinical and molecular characterization of novel FARS2 variants causing neonatal mitochondrial disease.
Mol Genet Metab
; 140(3): 107657, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37523899
2.
Natural history of epilepsy in argininosuccinic aciduria provides new insights into pathophysiology: A retrospective international study.
Epilepsia
; 64(6): 1612-1626, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36994644
3.
The incidence of movement disorder increases with age and contrasts with subtle and limited neuroimaging abnormalities in argininosuccinic aciduria.
J Inherit Metab Dis
; 2023 Dec 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38044746
4.
What are the information needs of parents caring for a child with Glutaric aciduria type 1?
BMC Pediatr
; 19(1): 349, 2019 10 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-31607269
5.
Clinical experience with glycerol phenylbutyrate in 20 patients with urea cycle disorders at a UK paediatric centre.
JIMD Rep
; 64(5): 317-326, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-37701329
6.
Liver transplantation in ornithine transcarbamylase deficiency: A retrospective multicentre cohort study.
Mol Genet Metab Rep
; 37: 101020, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-38053940
7.
Direct replacement of oral sodium benzoate with glycerol phenylbutyrate in children with urea cycle disorders.
JIMD Rep
; 63(2): 137-145, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-35281661
8.
Clinical utilization of dried blood spot nitisinone (NTBC) and succinylacetone (SA) concentrations in hereditary tyrosinaemia type 1 - A UK centre experience.
Ann Clin Biochem
; 57(6): 412-419, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32936663
9.
Neonatal head and torso vibration exposure during inter-hospital transfer.
Proc Inst Mech Eng H
; 231(2): 99-113, 2017 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-28056712
10.
Expanding the phenotypic spectrum of ALDH18A1-related autosomal recessive cutis laxa with a description of novel neuroradiological findings.
Clin Dysmorphol
; 31(2): 66-70, 2022 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34954732
11.
Closed reduction of radius refracture: A case report.
Int J Surg Case Rep
; 2(8): 275-7, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-22096752