Detalhe da pesquisa
1.
Variants in the ethylmalonyl-CoA decarboxylase (ECHDC1) gene: a novel player in ethylmalonic aciduria?
J Inherit Metab Dis
; 44(5): 1215-1225, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33973257
2.
Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency.
Am J Hum Genet
; 98(6): 1130-1145, 2016 Jun 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27259049
3.
Cellular consequences of oxidative stress in riboflavin responsive multiple acyl-CoA dehydrogenation deficiency patient fibroblasts.
Hum Mol Genet
; 23(16): 4285-301, 2014 Aug 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24698980
4.
Secondary coenzyme Q10 deficiency and oxidative stress in cultured fibroblasts from patients with riboflavin responsive multiple Acyl-CoA dehydrogenation deficiency.
Hum Mol Genet
; 22(19): 3819-27, 2013 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23727839
5.
Redox signalling and mitochondrial stress responses; lessons from inborn errors of metabolism.
J Inherit Metab Dis
; 38(4): 703-19, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-26025548
6.
The ETFDH c.158A>G variation disrupts the balanced interplay of ESE- and ESS-binding proteins thereby causing missplicing and multiple Acyl-CoA dehydrogenation deficiency.
Hum Mutat
; 35(1): 86-95, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24123825
7.
Molecular mechanisms of riboflavin responsiveness in patients with ETF-QO variations and multiple acyl-CoA dehydrogenation deficiency.
Hum Mol Genet
; 21(15): 3435-48, 2012 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22611163
8.
Proteomic investigation of cultivated fibroblasts from patients with mitochondrial short-chain acyl-CoA dehydrogenase deficiency.
Mol Genet Metab
; 111(3): 360-368, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24485985
9.
FLAD1, encoding FAD synthase, is mutated in a patient with myopathy, scoliosis and cataracts.
Clin Genet
; 94(6): 592-593, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30427553
10.
Odd- and even-numbered medium-chained fatty acids protect against glutathione depletion in very long-chain acyl-CoA dehydrogenase deficiency.
Biochim Biophys Acta Mol Cell Biol Lipids
; 1868(2): 159248, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36356723
11.
Biochemical screening of 504,049 newborns in Denmark, the Faroe Islands and Greenland--experience and development of a routine program for expanded newborn screening.
Mol Genet Metab
; 107(3): 281-93, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22795865
12.
Retrograde response to mitochondrial dysfunctions associated to LOF variations in FLAD1 exon 2: unraveling the importance of RFVT2.
Free Radic Res
; 56(7-8): 511-525, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36480241
13.
Maternal riboflavin deficiency, resulting in transient neonatal-onset glutaric aciduria Type 2, is caused by a microdeletion in the riboflavin transporter gene GPR172B.
Hum Mutat
; 32(1): E1976-84, 2011 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21089064
14.
Urgent metabolic service improves survival in long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency detected by symptomatic identification and pilot newborn screening.
J Inherit Metab Dis
; 34(1): 185-95, 2011 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-21103935
15.
Bezafibrate activation of PPAR drives disturbances in mitochondrial redox bioenergetics and decreases the viability of cells from patients with VLCAD deficiency.
Biochim Biophys Acta Mol Basis Dis
; 1867(6): 166100, 2021 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33549744
16.
Bioenergetic and Proteomic Profiling of Immune Cells in Myalgic Encephalomyelitis/Chronic Fatigue Syndrome Patients: An Exploratory Study.
Biomolecules
; 11(7)2021 06 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-34209852
17.
Disease mechanisms and protein structures in fatty acid oxidation defects.
J Inherit Metab Dis
; 33(5): 547-53, 2010 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-20151199
18.
A comprehensive HADHA c.1528G>C frequency study reveals high prevalence of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in Poland.
J Inherit Metab Dis
; 33 Suppl 3: S373-7, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-20814823
19.
FLAD1-associated multiple acyl-CoA dehydrogenase deficiency identified by newborn screening.
Mol Genet Genomic Med
; 7(9): e915, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31392824
20.
Mitochondrial fatty acid oxidation defects--remaining challenges.
J Inherit Metab Dis
; 31(5): 643-57, 2008 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-18836889