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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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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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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 (Landmark. Print), 2017-01, Vol.22 (1), p.117-127

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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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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Abnormal Newborn Screening in a Healthy Infant of a Mother with Undiagnosed Medium-Chain Acyl-CoA Dehydrogenase Deficiency

JIMD Reports, Volume 23, 2015, Vol.23, p.67-70

2015

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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

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

Disease mechanisms and protein structures in fatty acid oxidation defects

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

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

Abnormal Newborn Screening in a Healthy Infant of a Mother with Undiagnosed Medium-Chain Acyl-CoA Dehydrogenase Deficiency

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