Detalhe da pesquisa
1.
Clinical, pathological and genetic features and follow-up of 110 patients with late-onset MADD: a single-center retrospective study.
Hum Mol Genet
; 31(7): 1115-1129, 2022 03 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-34718578
2.
Increased antioxidant response in medium-chain acyl-CoA dehydrogenase deficiency: does lipoic acid have a protective role?
Pediatr Res
; 88(4): 556-564, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32045933
3.
Riboflavin Deficiency-Implications for General Human Health and Inborn Errors of Metabolism.
Int J Mol Sci
; 21(11)2020 May 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-32481712
4.
An intronic variation in SLC52A1 causes exon skipping and transient riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency.
Mol Genet Metab
; 122(4): 182-188, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29122468
5.
Autoimmunity in patients reporting long-term complications after exposure to human papilloma virus vaccination.
J Autoimmun
; 133: 102921, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36356549
6.
Short-chain acyl-CoA dehydrogenase deficiency: from gene to cell pathology and possible disease mechanisms.
J Inherit Metab Dis
; 40(5): 641-655, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28516284
7.
Serum calcitonin gene-related peptide in patients with persistent post-concussion symptoms, including headache: a cohort study.
J Neurol
; 271(5): 2458-2472, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38231270
8.
Serum neurofilament light chain, inflammatory markers, and kynurenine metabolites in patients with persistent post-concussion symptoms: A cohort study.
J Neurol Sci
; 460: 123016, 2024 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38636323
9.
Genetic and cellular modifiers of oxidative stress: what can we learn from fatty acid oxidation defects?
Mol Genet Metab
; 110 Suppl: S31-9, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-24206932
10.
Simultaneous measurement of kynurenine metabolites and explorative metabolomics using liquid chromatography-mass spectrometry: A novel accurate method applied to serum and plasma samples from a large healthy cohort.
J Pharm Biomed Anal
; 227: 115304, 2023 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36827735
11.
Use of Molecular Genetic Analyses in Danish Routine Newborn Screening.
Int J Neonatal Screen
; 7(3)2021 Jul 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-34449524
12.
High-resolution melting analysis, a simple and effective method for reliable mutation scanning and frequency studies in the ACADVL gene.
J Inherit Metab Dis
; 33(3): 247-60, 2010 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-20480395
13.
Danish expanded newborn screening is a successful preventive public health programme.
Dan Med J
; 67(1)2020 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-31908255
14.
[Myalgic encephalomyelitis or chronic fatigue syndrome].
Ugeskr Laeger
; 181(24)2019 Jun 10.
Artigo
em Dinamarquês
| MEDLINE | ID: mdl-31267953
15.
Post-mortem detection of FLAD1 mutations in 2 Turkish siblings with hypotonia in early infancy.
Neuromuscul Disord
; 28(9): 787-790, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30061063
16.
Mitochondrial Spare Respiratory Capacity Is Negatively Correlated with Nuclear Reprogramming Efficiency.
Stem Cells Dev
; 26(3): 166-176, 2017 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27784195
17.
Normal Levels of Plasma Free Carnitine and Acylcarnitines in Follow-Up Samples from a Presymptomatic Case of Carnitine Palmitoyl Transferase 1 (CPT1) Deficiency Detected Through Newborn Screening in Denmark.
JIMD Rep
; 3: 11-5, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-23430868