Detalhe da pesquisa
1.
A pioneer study on human 3-nitropropionic acid intoxication: Contributions from metabolomics.
J Appl Toxicol
; 42(5): 818-829, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34725838
2.
Global Metabolomics Discovers Two Novel Biomarkers in Pyridoxine-Dependent Epilepsy Caused by ALDH7A1 Deficiency.
Int J Mol Sci
; 23(24)2022 Dec 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-36555701
3.
Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency.
J Inherit Metab Dis
; 44(1): 178-192, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33200442
4.
Phenotypic expansion of ARSK-related mucopolysaccharidosis.
Am J Med Genet A
; 188(11): 3369-3373, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35959767
5.
Epidemiology and natural history of POLG disease in Norway: a nationwide cohort study.
Ann Clin Transl Neurol
; 2024 Jun 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38845467
6.
Utility and limitations of EEG in the diagnosis and management of ALDH7A1-related pyridoxine-dependent epilepsy. A retrospective observational study.
Front Neurol
; 15: 1355861, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38419708
7.
Fasting and non-fasting plasma levels of monomethyl branched chain fatty acids: Implications for maple syrup urine disease.
JIMD Rep
; 64(5): 360-366, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-37701324
8.
Vitamin B12 Deficiency (Un-)Detected Using Newborn Screening in Norway.
Int J Neonatal Screen
; 9(1)2023 Jan 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36648770
9.
Adult presentation of ornithine transcarbamylase deficiency: a possible cause of hyperammonemia after high-dose chemotherapy and stem cell transplantation.
Hematology
; 28(1): 2265187, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-38078487
10.
The spectrum of pyridoxine dependent epilepsy across the age span: A nationwide retrospective observational study.
Epilepsy Res
; 190: 107099, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36731270
11.
Novel mutations in the HADHB gene causing a mild phenotype of mitochondrial trifunctional protein (MTP) deficiency.
JIMD Rep
; 63(3): 193-198, 2022 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-35433169
12.
Performance of Expanded Newborn Screening in Norway Supported by Post-Analytical Bioinformatics Tools and Rapid Second-Tier DNA Analyses.
Int J Neonatal Screen
; 6(3): 51, 2020 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-33123633
13.
Corrigendum to "The spectrum of pyridoxine dependent epilepsy across the age span: A nationwide retrospective observational study" [Epilepsy Res. 190 (2023) 107099].
Epilepsy Res
; 198: 107113, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-36906427
14.
Varicella-related Primary Health-care Visits, Hospitalizations and Mortality in Norway, 2008-2014.
Pediatr Infect Dis J
; 36(11): 1032-1038, 2017 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-28657969