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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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Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency

Human mutation, 2003-07, Vol.22 (1), p.12-23

2003

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Mutation analysis in mitochondrial fatty acid oxidation defects: Exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype-phenotype relationship

Human mutation, 2001-09, Vol.18 (3), p.169-189

2001

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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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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Electron transfer flavoprotein deficiency: Functional and molecular aspects

Molecular genetics and metabolism, 2006-06, Vol.88 (2), p.153-158

2006

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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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Non-Loss-of-Function Frameshift Variants in the FAD Synthase Gene Cause Combined Respiratory Chain Deficiency

Biochimica et biophysica acta. Bioenergetics, 2016-08, Vol.1857, p.e95-e95

2016

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Flavin-sensitive variant FAD synthases underlying riboflavin responsive Multiple Acyl-CoA Dehydrogenation Deficiency

Biochimica et biophysica acta. Bioenergetics, 2016-08, Vol.1857, p.e97-e97

2016

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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

Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency

Mutation analysis in mitochondrial fatty acid oxidation defects: Exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype-phenotype relationship

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

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

Linking telomere loss and mitochondrial dysfunction in chronic disease

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

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

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

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

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

Mitochondrial fatty acid oxidation defects—remaining challenges

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

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

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

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

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

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

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

Disease mechanisms and protein structures in fatty acid oxidation defects

Electron transfer flavoprotein deficiency: Functional and molecular aspects

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

Non-Loss-of-Function Frameshift Variants in the FAD Synthase Gene Cause Combined Respiratory Chain Deficiency

Flavin-sensitive variant FAD synthases underlying riboflavin responsive Multiple Acyl-CoA Dehydrogenation Deficiency

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