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Molecular mechanisms of riboflavin responsiveness in patients with ETF-QO variations and multiple acyl-CoA dehydrogenation deficiency

Human molecular genetics, 2012-08, Vol.21 (15), p.3435-3448

2012

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Mitochondrial fatty acid oxidation defects—remaining challenges

Journal of inherited metabolic disease, 2008-10, Vol.31 (5), p.643-657

2008

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ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency

Brain (London, England : 1878), 2007-08, Vol.130 (8), p.2045-2054

2007

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Human inborn errors of long‐chain fatty acid oxidation show impaired inflammatory responses to TLR4‐ligand LPS

FASEB bioAdvances, 2024-09, Vol.6 (9), p.337-350

2024

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Redox signalling and mitochondrial stress responses; lessons from inborn errors of metabolism

Journal of inherited metabolic disease, 2015-07, Vol.38 (4), p.703-719

2015

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Disease mechanisms and protein structures in fatty acid oxidation defects

Journal of inherited metabolic disease, 2010-10, Vol.33 (5), p.547-553

2010

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Secondary coenzyme Q10 deficiency and oxidative stress in cultured fibroblasts from patients with riboflavin responsive multiple Acyl-CoA dehydrogenation deficiency

Human molecular genetics, 2013-10, Vol.22 (19), p.3819-3827

2013

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Maternal riboflavin deficiency, resulting in transient neonatal-onset glutaric aciduria Type 2, is caused by a microdeletion in the riboflavin transporter gene GPR172B

Human mutation, 2011-01, Vol.32 (1), p.E1976-E1984

2011

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Urgent metabolic service improves survival in long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency detected by symptomatic identification and pilot newborn screening

Journal of inherited metabolic disease, 2011-02, Vol.34 (1), p.185-195

2011

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Bioenergetic and Proteomic Profiling of Immune Cells in Myalgic Encephalomyelitis/Chronic Fatigue Syndrome Patients: An Exploratory Study

Biomolecules (Basel, Switzerland), 2021-06, Vol.11 (7), p.961

2021

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FLAD1, encoding FAD synthase, is mutated in a patient with myopathy, scoliosis and cataracts

Clinical genetics, 2018-12, Vol.94 (6), p.592-593

2018

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Biochemical screening of 504,049 newborns in Denmark, the Faroe Islands and Greenland — Experience and development of a routine program for expanded newborn screening

Molecular genetics and metabolism, 2012-11, Vol.107 (3), p.281-293

2012

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Proteomic investigation of cultivated fibroblasts from patients with mitochondrial short-chain acyl-CoA dehydrogenase deficiency

Molecular genetics and metabolism, 2014-03, Vol.111 (3), p.360-368

2014

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FLAD1‐associated multiple acyl‐CoA dehydrogenase deficiency identified by newborn screening

Molecular genetics & genomic medicine, 2019-09, Vol.7 (9), p.e915-n/a

2019

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Odd- and even-numbered medium-chained fatty acids protect against glutathione depletion in very long-chain acyl-CoA dehydrogenase deficiency

Biochimica et biophysica acta. Molecular and cell biology of lipids, 2023-02, Vol.1868 (2), p.159248-159248, Article 159248

2023

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Bezafibrate activation of PPAR drives disturbances in mitochondrial redox bioenergetics and decreases the viability of cells from patients with VLCAD deficiency

Biochimica et biophysica acta. Molecular basis of disease, 2021-06, Vol.1867 (6), p.166100-166100, Article 166100

2021

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A comprehensive HADHA c.1528G>C frequency study reveals high prevalence of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in Poland

Journal of inherited metabolic disease, 2010-12, Vol.33 (Suppl 3), p.373-377

2010

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A short introduction to acyl-CoA dehydrogenases; deficiencies and novel treatment strategies

Expert opinion on orphan drugs, 2015-12, Vol.3 (12), p.1375-1386

2015

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Cellular consequences of oxidative stress in riboflavin responsive multiple acyl-CoA dehydrogenation deficiency patient fibroblasts

Human molecular genetics, 2014-08, Vol.23 (16), p.4285-4301

2014

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Retrograde response to mitochondrial dysfunctions associated to LOF variations in FLAD1 exon 2: unraveling the importance of RFVT2

Free radical research, 2022-08, Vol.56 (7-8), p.511-525

2022

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Variants in the ethylmalonyl‐CoA decarboxylase (ECHDC1) gene: a novel player in ethylmalonic aciduria?

Journal of inherited metabolic disease, 2021-09, Vol.44 (5), p.1215-1225

2021

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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

Human mutation, 2014-01, Vol.35 (1), p.86-95

2014

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DNA-based prenatal diagnosis for severe and variant forms of multiple acyl-CoA dehydrogenation deficiency

Prenatal diagnosis, 2005-01, Vol.25 (1), p.60-64

2005

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Linking telomere loss and mitochondrial dysfunction in chronic disease

Frontiers in bioscience, 2017-01, Vol.22 (1), p.117-127, Article 4475

2017

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Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency

American journal of human genetics, 2016-06, Vol.98 (6), p.1130-1145

2016

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Molecular mechanisms of riboflavin responsiveness in patients with ETF-QO variations and multiple acyl-CoA dehydrogenation deficiency

Mitochondrial fatty acid oxidation defects—remaining challenges

ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency

Human inborn errors of long‐chain fatty acid oxidation show impaired inflammatory responses to TLR4‐ligand LPS

Redox signalling and mitochondrial stress responses; lessons from inborn errors of metabolism

Disease mechanisms and protein structures in fatty acid oxidation defects

Secondary coenzyme Q10 deficiency and oxidative stress in cultured fibroblasts from patients with riboflavin responsive multiple Acyl-CoA dehydrogenation deficiency

Maternal riboflavin deficiency, resulting in transient neonatal-onset glutaric aciduria Type 2, is caused by a microdeletion in the riboflavin transporter gene GPR172B

Urgent metabolic service improves survival in long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency detected by symptomatic identification and pilot newborn screening

Bioenergetic and Proteomic Profiling of Immune Cells in Myalgic Encephalomyelitis/Chronic Fatigue Syndrome Patients: An Exploratory Study

FLAD1, encoding FAD synthase, is mutated in a patient with myopathy, scoliosis and cataracts

Biochemical screening of 504,049 newborns in Denmark, the Faroe Islands and Greenland — Experience and development of a routine program for expanded newborn screening

Proteomic investigation of cultivated fibroblasts from patients with mitochondrial short-chain acyl-CoA dehydrogenase deficiency

FLAD1‐associated multiple acyl‐CoA dehydrogenase deficiency identified by newborn screening

Odd- and even-numbered medium-chained fatty acids protect against glutathione depletion in very long-chain acyl-CoA dehydrogenase deficiency

Bezafibrate activation of PPAR drives disturbances in mitochondrial redox bioenergetics and decreases the viability of cells from patients with VLCAD deficiency

A comprehensive HADHA c.1528G>C frequency study reveals high prevalence of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in Poland

A short introduction to acyl-CoA dehydrogenases; deficiencies and novel treatment strategies

Cellular consequences of oxidative stress in riboflavin responsive multiple acyl-CoA dehydrogenation deficiency patient fibroblasts

Retrograde response to mitochondrial dysfunctions associated to LOF variations in FLAD1 exon 2: unraveling the importance of RFVT2

Variants in the ethylmalonyl‐CoA decarboxylase (ECHDC1) gene: a novel player in ethylmalonic aciduria?

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

DNA-based prenatal diagnosis for severe and variant forms of multiple acyl-CoA dehydrogenation deficiency

Linking telomere loss and mitochondrial dysfunction in chronic disease

Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency

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