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List of works by Ronald J A Wanders

2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency Is Caused by Mutations in the HADH2 Gene ⬇️

scientific article published on April 14, 2003

2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: an X-linked inborn error of isoleucine metabolism that may mimic a mitochondrial disease

scientific article

3-Methylglutaconic aciduria type I is caused by mutations in AUH

scientific journal article

A PEX6-defective peroxisomal biogenesis disorder with severe phenotype in an infant, versus mild phenotype resembling Usher syndrome in the affected parents

scientific article

A case of D-bifunctional protein deficiency: clinical, biochemical and molecular investigations

scientific article published on 01 August 2011

A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism

scientific article

A common mutation, R208X, identified in Vietnamese patients with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency

scientific article

A general introduction to the biochemistry of mitochondrial fatty acid β-oxidation

scientific article

A key role for the peroxisomal ABCD2 transporter in fatty acid homeostasis.

scientific article published on 14 October 2008

A lethal defect of mitochondrial and peroxisomal fission

scientific article published on April 2007

A method for quantitative acylcarnitine profiling in human skin fibroblasts using unlabelled palmitic acid: diagnosis of fatty acid oxidation disorders and differentiation between biochemical phenotypes of MCAD deficiency

scientific article published in October 2002

A mutation in PEX19 causes a severe clinical phenotype in a patient with peroxisomal biogenesis disorder ⬇️

scientific article published on September 1, 2010

A mutation in an alternative untranslated exon of hexokinase 1 associated with hereditary motor and sensory neuropathy -- Russe (HMSNR).

scientific article

A non-enzymatic function of 17beta-hydroxysteroid dehydrogenase type 10 is required for mitochondrial integrity and cell survival

scientific article

A novel HPLC-based method to diagnose peroxisomal D-bifunctional protein enoyl-CoA hydratase deficiency

scientific article published on December 2002

A novel PEX12 mutation identified as the cause of a peroxisomal biogenesis disorder with mild clinical phenotype, mild biochemical abnormalities in fibroblasts and a mosaic catalase immunofluorescence pattern, even at 40 degrees C

scientific article

A novel UPLC-MS/MS based method to determine the activity of N-acetylglutamate synthase in liver tissue

scientific article published on 13 October 2016

A novel aberrant splicing mutation of the PEX16 gene in two patients with Zellweger syndrome

scientific article

A novel bile acid biosynthesis defect due to a deficiency of peroxisomal ABCD3

scientific article

A novel case of ACOX2 deficiency leads to recognition of a third human peroxisomal acyl-CoA oxidase

scientific article

A novel cell model to study the function of the adrenoleukodystrophy-related protein.

scientific article published on 6 January 2006

A novel defect of peroxisome division due to a homozygous non-sense mutation in the PEX11β gene

scientific article published in May 2012

A novel functional assay for simultaneous determination of total fatty acid beta-oxidation flux and acylcarnitine profiling in human skin fibroblasts using (2)H(31)-palmitate by isotope ratio mass spectrometry and electrospray tandem mass spectromet

scientific article published on 21 March 2007

A novel mutation of the ACADM gene (c.145C>G) associated with the common c.985A>G mutation on the other ACADM allele causes mild MCAD deficiency: a case report ⬇️

scientific article published on October 5, 2010

A novel splice site mutation in neonatal carnitine palmitoyl transferase II deficiency

scientific article published on 01 January 2003

A role for the human peroxisomal half-transporter ABCD3 in the oxidation of dicarboxylic acids.

scientific article published on 13 December 2013

A role for the peroxisomal 3-ketoacyl-CoA thiolase B enzyme in the control of PPARα-mediated upregulation of SREBP-2 target genes in the liver.

scientific article published on 23 February 2011

ACBD5 deficiency causes a defect in peroxisomal very long-chain fatty acid metabolism

scientific article published on 31 October 2016

AMC-Bio-Artificial Liver culturing enhances mitochondrial biogenesis in human liver cell lines: The role of oxygen, medium perfusion and 3D configuration

scientific article

Aberrant cardiolipin metabolism in the yeast taz1 mutant: a model for Barth syndrome.

scientific article

Aberrant protein acylation is a common observation in inborn errors of acyl-CoA metabolism

scientific article published on 15 February 2014

Absence of functional peroxisomes does not lead to deficiency of enzymes involved in cholesterol biosynthesis

scientific article

Acute detachment of hexokinase II from mitochondria modestly increases oxygen consumption of the intact mouse heart

scientific article published on 21 April 2017

Acyl-CoA dehydrogenase 9 is required for the biogenesis of oxidative phosphorylation complex I

scientific article

Adult peroxisomal acyl-coenzyme A oxidase deficiency with cerebellar and brainstem atrophy

scientific article

Alkyl-glycerol rescues plasmalogen levels and pathology of ether-phospholipid deficient mice

scientific article

Alpha-oxidation

scientific article published on 26 July 2006

An UPLC-MS/MS Assay to Measure Glutathione as Marker for Oxidative Stress in Cultured Cells

article published in 2019

An algorithm to predict phenotypic severity in mucopolysaccharidosis type I in the first month of life

scientific article published on 9 July 2013

An improved enzyme assay for carnitine palmitoyl transferase I in fibroblasts using tandem mass spectrometry

scientific article published on 28 August 2006

Analysis of carnitine biosynthesis metabolites in urine by HPLC-electrospray tandem mass spectrometry.

scientific article published in June 2002

Analysis of cysteinyl leukotrienes and their metabolites in bile of patients with peroxisomal or mitochondrial beta-oxidation defects

scientific article

Analysis of very long-chain fatty acids using electrospray ionization mass spectrometry

scientific article published on 01 July 2003

Antioxidant dysfunction: potential risk for neurotoxicity in ethylmalonic aciduria

scientific article published on 5 May 2010

Arginine improves peroxisome functioning in cells from patients with a mild peroxisome biogenesis disorder

scientific article published on 9 September 2013

Assay for Sjögren-Larsson syndrome based on a deficiency of phytol degradation.

scientific article

Ataxia with loss of Purkinje cells in a mouse model for Refsum disease

scholarly article

Autosomal recessive HEM/Greenberg skeletal dysplasia is caused by 3 beta-hydroxysterol delta 14-reductase deficiency due to mutations in the lamin B receptor gene

scientific article

Bezafibrate for X-linked adrenoleukodystrophy

scientific article

Bezafibrate lowers very long‐chain fatty acids in X‐linked adrenoleukodystrophy fibroblasts by inhibiting fatty acid elongation ⬇️

scientific article published on March 24, 2012

Bile acid treatment alters hepatic disease and bile acid transport in peroxisome-deficient PEX2 Zellweger mice

scientific article published on 01 April 2007

Bile acids: the role of peroxisomes

scientific article published on 08 April 2009

Biochemical aspects of X-linked adrenoleukodystrophy.

scientific article published on July 2010

Biochemical markers predicting survival in peroxisome biogenesis disorders.

scientific article

Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment ⬇️

scientific article

C26:0-Carnitine Is a New Biomarker for X-Linked Adrenoleukodystrophy in Mice and Man

scientific article

CYP4F2 affects phenotypic outcome in adrenoleukodystrophy by modulating the clearance of very long-chain fatty acids

scientific article published on 14 July 2016

Cardiolipin deficiency in X-linked cardioskeletal myopathy and neutropenia (Barth syndrome, MIM 302060): a study in cultured skin fibroblasts

scientific article published in November 2002

Carnitine biosynthesis in mammals

scientific article

Carnitine palmitoyltransferase 2 and carnitine/acylcarnitine translocase are involved in the mitochondrial synthesis and export of acylcarnitines

scientific article published on 15 January 2013

Carnitine supplementation in high-fat diet-fed rats does not ameliorate lipid-induced skeletal muscle mitochondrial dysfunction in vivo.

scientific article published on 18 August 2015

Carnitine-palmitoyltransferase 2 deficiency: Novel mutations and relevance of newborn screening

scientific article published on 01 November 2008

Carrier frequency of the V377I (1129G>A) MVK mutation, associated with Hyper-IgD and periodic fever syndrome, in the Netherlands

scientific article published on February 2003

Characterisation of recombinant human fatty aldehyde dehydrogenase: implications for Sjögren-Larsson syndrome

scientific article

Characteristic acylcarnitine profiles in inherited defects of peroxisome biogenesis: a novel tool for screening diagnosis using tandem mass spectrometry

scientific article published on 19 March 2003

Characterization of D-3-hydroxybutyrylcarnitine (ketocarnitine): an identified ketosis-induced metabolite

scientific article published on 29 December 2011

Characterization of L-aminocarnitine, an inhibitor of fatty acid oxidation

scientific article published on 20 February 2008

Characterization of carnitine and fatty acid metabolism in the long-chain acyl-CoA dehydrogenase-deficient mouse

scientific article published on April 2005

Characterization of the final step in the conversion of phytol into phytanic acid.

scientific article published on 2 May 2005

Characterization of the human omega-oxidation pathway for omega-hydroxy-very-long-chain fatty acids

scientific article published on 08 January 2008

Cholesterol biosynthesis is not defective in peroxisome biogenesis defective fibroblasts

scientific article

Clinical and Biochemical Pitfalls in the Diagnosis of Peroxisomal Disorders

scientific article published on 18 April 2016

Clinical and Laboratory Diagnosis of Peroxisomal Disorders

scientific article

Clinical and biochemical characterization of four patients with mutations in ECHS1.

scientific article published on 18 June 2015

Clinical and biochemical spectrum of D-bifunctional protein deficiency

scientific article published in January 2006

Clinical aspects of short-chain acyl-CoA dehydrogenase deficiency

scientific article

Clinical implications of mutation analysis in primary hyperoxaluria type 1.

scientific article published in August 2004

Clinical variability in 3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency

scientific article

Clinical, biochemical, and genetic heterogeneity in short-chain acyl-coenzyme A dehydrogenase deficiency

scientific article published in August 2006

Clinical, biochemical, and molecular findings in three patients with 3-hydroxyisobutyric aciduria

scientific article

Clinical, biochemical, and mutational spectrum of peroxisomal acyl-coenzyme A oxidase deficiency

scientific article

Comment on the paper "Effect of statin treatment on adrenomyeloneuropathy with cerebral inflammation: a revisit".

scientific article

Comparison of C26:0-carnitine and C26:0-lysophosphatidylcholine as diagnostic markers in dried blood spots from newborns and patients with adrenoleukodystrophy

scientific article published on 28 October 2017

Complete beta-oxidation of valproate: cleavage of 3-oxovalproyl-CoA by a mitochondrial 3-oxoacyl-CoA thiolase

scientific journal article

Complex lipids

scientific article published on 01 January 2015

Defective lipid remodeling of GPI anchors in peroxisomal disorders, Zellweger syndrome, and rhizomelic chondrodysplasia punctata ⬇️

scientific article published on January 17, 2012

Demonstration and characterization of phosphate transport in mammalian peroxisomes

scientific article published on August 2005

Demonstration of bile acid transport across the mammalian peroxisomal membrane

scientific article published on 26 March 2007

Design, synthesis, and in vitro testing of alpha-methylacyl-CoA racemase inhibitors

scientific article published on 04 May 2007

Developmental changes of bile acid composition and conjugation in L- and D-bifunctional protein single and double knockout mice

scientific article

Differential substrate specificities of human ABCD1 and ABCD2 in peroxisomal fatty acid β-oxidation ⬇️

scientific article published on December 8, 2010

Direct nonisotopic assay of 3-methylglutaconyl-CoA hydratase in cultured human skin fibroblasts to specifically identify patients with 3-methylglutaconic aciduria type I

scientific article published on 10 June 2004

ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism

scientific article published on 14 August 2014

Elongation of very long-chain fatty acids is enhanced in X-linked adrenoleukodystrophy

scientific article published in February 2005

Enzymatic characterization of ELOVL1, a key enzyme in very long-chain fatty acid synthesis.

scientific article published on 11 December 2014

Enzymatic diagnosis of Sjögren-Larsson syndrome using electrospray ionization mass spectrometry

scientific article published on 25 December 2008

Enzymology of the branched-chain amino acid oxidation disorders: the valine pathway

scientific article published on 23 November 2010

Etiology of mental retardation in children referred to a tertiary care center: a prospective study

scientific article published in July 2005

Evaluation of C26:0-lysophosphatidylcholine and C26:0-carnitine as diagnostic markers for Zellweger spectrum disorders

scientific article

Evidence for increased oxidative stress in peroxisomal D-bifunctional protein deficiency

scientific article published on August 2003

Evidence for two enzymatic pathways for omega-oxidation of docosanoic acid in rat liver microsomes

scientific article

Familial very long chain acyl-CoA dehydrogenase deficiency as a cause of neonatal sudden infant death: improved survival by prompt diagnosis

scientific article

Fasting and fat-loading tests provide pathophysiological insight into short-chain acyl-coenzyme a dehydrogenase deficiency

scientific article published in January 2010

Fatty acid omega‐oxidation as a rescue pathway for fatty acid oxidation disorders in humans ⬇️

scientific article published on December 13, 2010

Fatty acid oxidation in the human fetus: Implications for fetal and adult disease

First identification of a 2-ketoglutarate/isocitrate transport system in mammalian peroxisomes and its characterization

scientific article published on 20 July 2006

Flavin adenine dinucleotide status and the effects of high-dose riboflavin treatment in short-chain acyl-CoA dehydrogenase deficiency

scientific article

Food withdrawal lowers energy expenditure and induces inactivity in long-chain fatty acid oxidation-deficient mouse models

scientific article (publication date: July 2014)

Functional analysis of TMLH variants and definition of domains required for catalytic activity and mitochondrial targeting

scientific article

Functional characterisation of peroxisomal β-oxidation disorders in fibroblasts using lipidomics

scientific article published on 28 August 2017

Functional redundancy of mitochondrial enoyl-CoA isomerases in the oxidation of unsaturated fatty acids.

scientific article

Functions and biosynthesis of plasmalogens in health and disease.

scientific article published on March 2004

Ganciclovir nucleotides accumulate in mitochondria of rat liver cells expressing the herpes simplex virus thymidine kinase gene

scientific article

Gas chromatography/mass spectrometry analysis of very long chain fatty acids, docosahexaenoic acid, phytanic acid and plasmalogen for the screening of peroxisomal disorders

scientific article published in October 2003

Genetic basis of alpha-aminoadipic and alpha-ketoadipic aciduria

scientific article

Genetic basis of hyperlysinemia

scientific article published in 2013

Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder ⬇️

scientific article published on January 1, 2011

Genotype-phenotype correlation in PEX5-deficient peroxisome biogenesis defective cell lines.

scientific article

HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase

scientific article

High incidence of hyperoxaluria in generalized peroxisomal disorders

scientific article published on 18 April 2006

Human disorders of peroxisome metabolism and biogenesis

scientific article

Human mevalonate pyrophosphate decarboxylase is localized in the cytosol

scientific article

Hydrogen sulfide donor NaHS reduces organ injury in a rat model of pneumococcal pneumosepsis, associated with improved bio-energetic status

scientific article

Hypertrophic cardiomyopathy, cataract, developmental delay, lactic acidosis: a novel subtype of 3-methylglutaconic aciduria

scientific article

Identification and characterization of a complete carnitine biosynthesis pathway in Candida albicans

scientific article published on 16 March 2009

Identification and characterization of human cardiolipin synthase

scientific article published on 27 April 2006

Identification and diagnostic value of phytanoyl- and pristanoyl-carnitine in plasma from patients with peroxisomal disorders.

scientific article

Identification of PEX7 as the second gene involved in Refsum disease

scientific article

Identification of PEX7 as the second gene involved in Refsum disease

scientific article published on 01 January 2003

Identification of a new complementation group of the peroxisome biogenesis disorders and PEX14 as the mutated gene

scientific article

Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene

scientific article

Identification of enzymes involved in oxidation of phenylbutyrate

scientific article published on 9 March 2017

Identification of fatty aldehyde dehydrogenase in the breakdown of phytol to phytanic acid

scientific article

Identification of novel mutations in classical galactosemia

scientific article

Identification of the human mitochondrial FAD transporter and its potential role in multiple acyl-CoA dehydrogenase deficiency

scientific article published on 13 September 2005

Identification of the molecular defect in patients with peroxisomal mosaicism using a novel method involving culturing of cells at 40 degrees C: implications for other inborn errors of metabolism

scientific article

Identification of the peroxisomal beta-oxidation enzymes involved in the degradation of leukotrienes.

scientific article

Identification of the peroxisomal beta-oxidation enzymes involved in the degradation of long-chain dicarboxylic acids

scientific article published in April 2004

Identification of three patients with a very mild form of Smith-Lemli-Opitz syndrome

scientific article published in September 2003

Impaired Bile Acid Homeostasis in Children with Severe Acute Malnutrition

scientific article

Impaired amino acid metabolism contributes to fasting-induced hypoglycemia in fatty acid oxidation defects

scientific article published on 9 August 2013

Impaired neuronal migration and endochondral ossification in Pex7 knockout mice: a model for rhizomelic chondrodysplasia punctata

scientific journal article

Impaired ubiquitin-proteasome-mediated PGC-1α protein turnover and induced mitochondrial biogenesis secondary to complex-I deficiency.

scientific article published in May 2012

Improving the description of metabolic networks: the TCA cycle as example.

scientific article published on June 2012

Inactivation of the peroxisomal ABCD2 transporter in the mouse leads to late-onset ataxia involving mitochondria, Golgi and endoplasmic reticulum damage

scientific article

Increased intramyocellular lipid content but normal skeletal muscle mitochondrial oxidative capacity throughout the pathogenesis of type 2 diabetes

scientific article

Inhibition of adenine nucleotide transport in rat liver mitochondria by long-chain acyl-coenzyme A β-oxidation intermediates

scientific article published on 01 December 2006

Inhibition of hepatic carnitine palmitoyl-transferase I (CPT IA) by valproyl-CoA as a possible mechanism of valproate-induced steatosis

scientific article published on 23 October 2009

Intra-familial clinical heterogeneity: absence of genotype-phenotype correlation in primary hyperoxaluria type 1 in Israel

scientific article published in May 2005

Intrinsic acyl-CoA thioesterase activity of a peroxisomal ATP binding cassette transporter is required for transport and metabolism of fatty acids ⬇️

scientific article published on 3 January 2013

Isolated mitochondrial long-chain ketoacyl-CoA thiolase deficiency resulting from mutations in the HADHB gene

scientific article published on 19 January 2006

Kinetic and expression analyses of seven novel mutations in mitochondrial acetoacetyl-CoA thiolase (T2): identification of a Km mutant and an analysis of the mutational sites in the structure

scientific article published on 22 January 2007

Lack of isoprenoid products raises ex vivo interleukin-1beta secretion in hyperimmunoglobulinemia D and periodic fever syndrome

scientific article published on October 2002

Lethal neonatal case and review of primary short-chain enoyl-CoA hydratase (SCEH) deficiency associated with secondary lymphocyte pyruvate dehydrogenase complex (PDC) deficiency

scientific article published on 2 February 2017

Lipid-induced endoplasmic reticulum stress in X-linked adrenoleukodystrophy

scientific article

Lipidomic analysis of fibroblasts from Zellweger spectrum disorder patients identifies disease-specific phospholipid ratios

scientific article published on 9 June 2016

Long-Chain Fatty Acid Oxidation during Early Human Development

article

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: clinical presentation and follow-up of 50 patients

scientific article

Lovastatin in X-linked adrenoleukodystrophy

scientific article published in January 2010

MS/MS-based newborn and family screening detects asymptomatic patients with very-long-chain acyl-CoA dehydrogenase deficiency ⬇️

scientific article published on September 1, 2003

Mammalian peroxisomal ABC transporters: from endogenous substrates to pathology and clinical significance.

scientific article published on December 2011

Manipulation of isoprenoid biosynthesis as a possible therapeutic option in mevalonate kinase deficiency

scientific article published on July 2006

Measurement of carnitine biosynthesis enzyme activities by tandem mass spectrometry: differences between the mouse and the rat

scientific article published on 02 May 2006

Metabolic Interplay between Peroxisomes and Other Subcellular Organelles Including Mitochondria and the Endoplasmic Reticulum

scientific article

Metabolic functions and biogenesis of peroxisomes in health and disease ⬇️

scientific article published on 07 June 2012

Metabolite studies in HIBCH and ECHS1 defects: Implications for screening

scientific article published on 24 June 2015

Metabolite transport across the peroxisomal membrane

scientific article published on January 2007

Method for measurement of peroxisomal very-long-chain fatty acid beta-oxidation in human skin fibroblasts using stable-isotope-labeled tetracosanoic acid

scientific article published in October 2004

Mevalonate kinase deficiency: enlarging the clinical and biochemical spectrum

scientific article published on February 2003

Mevalonate kinase is a cytosolic enzyme in humans

scientific article

Mitochondrial NADP(H) deficiency due to a mutation in NADK2 causes dienoyl-CoA reductase deficiency with hyperlysinemia

scientific article

Mitochondrial long chain fatty acid beta-oxidation in man and mouse

scientific article (publication date: August 2009)

Mitochondrial protein acetylation is driven by acetyl-CoA from fatty acid oxidation

scientific article

Mitochondrial trifunctional protein deficiency in human cultured fibroblasts: effects of bezafibrate.

scientific article

Mitochondrial trifunctional protein deficiency with recurrent rhabdomyolysis.

scientific article published in June 2009

Mitochondrial trifunctional protein deficiency: a severe fatty acid oxidation disorder with cardiac and neurologic involvement

scientific article (publication date: June 2003)

Modeling the mitochondrial cardiomyopathy of Barth syndrome with induced pluripotent stem cell and heart-on-chip technologies

scientific article

Modern theories of metabolic control and their applications

scientific article

Molecular basis of Refsum disease: sequence variations in phytanoyl-CoA hydroxylase (PHYH) and the PTS2 receptor (PEX7).

scientific article published on March 2004

Molecular mechanism of a temperature-sensitive phenotype in peroxisomal biogenesis disorder

scientific article

Monitoring of fatty aldehyde dehydrogenase by formation of pyrenedecanoic acid from pyrenedecanal

scientific article

Monocarboxylate transporter 1 deficiency and ketone utilization

scientific article published in November 2014

Monolysocardiolipins accumulate in Barth syndrome but do not lead to enhanced apoptosis

scientific article (publication date: June 2005)

Mutational spectrum in the PEX7 gene and functional analysis of mutant alleles in 78 patients with rhizomelic chondrodysplasia punctata type 1.

scientific article published on 7 January 2002

Mutational spectrum of D-bifunctional protein deficiency and structure-based genotype-phenotype analysis

scientific article

Mutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduria

scientific article

Mutations in PEX10 are a cause of autosomal recessive ataxia.

scientific article published on August 2010

Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase results in progressive infantile neurodegeneration

scientific article

NMR spectroscopic studies on the late onset form of 3-methylglutaconic aciduria type I and other defects in leucine metabolism

scientific article published in April 2006

Necrotizing enterocolitis and respiratory distress syndrome as first clinical presentation of mitochondrial trifunctional protein deficiency

scientific article published on 31 March 2012

Neonatal screening for very long-chain acyl-coA dehydrogenase deficiency: enzymatic and molecular evaluation of neonates with elevated C14:1-carnitine levels

scientific article published on 01 September 2006

New insights on the mechanisms of valproate-induced hyperammonemia: Inhibition of hepatic N-acetylglutamate synthase activity by valproyl-CoA

scientific article published on 13 December 2010

Newborn screening for metabolic disorders: how are we doing, and where are we going? ⬇️

scientific article published on August 24, 2011

Novel metabolic and molecular findings in hepatic carnitine palmitoyltransferase I deficiency

scientific article

Novel missense mutations in the first Chinese patient with very-long-chain acyl-CoA dehydrogenase deficiency

article

Novel mutations in ETFDH gene in Chinese patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency

scientific article published on 3 March 2009

Novel mutations in the PEX12 gene of patients with a peroxisome biogenesis disorder ⬇️

scientific article (publication date: February 2004)

Novel mutations in the PEX2 gene of four unrelated patients with a peroxisome biogenesis disorder

scientific article

Omega-oxidation of very long-chain fatty acids in human liver microsomes. Implications for X-linked adrenoleukodystrophy

scientific article published on 17 March 2006

Only one splice variant of the human TAZ gene encodes a functional protein with a role in cardiolipin metabolism

scientific article

Oral Cholic Acid in Zellweger Spectrum Disorders: A Word of Caution

scientific article published on 26 September 2017

PEX1 deficiency presenting as Leber congenital amaurosis

scientific article published on 01 August 2004

PPAR alpha-activation results in enhanced carnitine biosynthesis and OCTN2-mediated hepatic carnitine accumulation

scientific article published on 13 July 2007

Participation of two members of the very long-chain acyl-CoA synthetase family in bile acid synthesis and recycling

scientific article

Pathogenicity of novel ABCD1 variants: The need for biochemical testing in the era of advanced genetics.

scientific article

Peripheral nervous system plasmalogens regulate Schwann cell differentiation and myelination

scientific article

Peroxisomal D-bifunctional protein deficiency: three adults diagnosed by whole-exome sequencing

scientific article published on 19 February 2014

Peroxisomal Fatty Acid Uptake Mechanism in Saccharomyces cerevisiae ⬇️

scientific article published on April 9, 2012

Peroxisomal L-bifunctional enzyme (Ehhadh) is essential for the production of medium-chain dicarboxylic acids

scientific article

Peroxisomal acyl-CoA-oxidase deficiency: two new cases

scientific article

Peroxisomal alterations in Alzheimer's disease

scientific article

Peroxisomal branched chain fatty acid beta-oxidation pathway is upregulated in prostate cancer

scientific article

Peroxisomal disorders: Improved laboratory diagnosis, new defects and the complicated route to treatment

scientific article published on 10 February 2018

Peroxisomal disorders: the single peroxisomal enzyme deficiencies

scientific article

Peroxisomal fatty acid alpha- and beta-oxidation in health and disease: new insights.

scientific article published on January 2003

Peroxisome biogenesis disorders with prolonged survival: phenotypic expression in a cohort of 31 patients

scientific article published in May 2004

Peroxisome deficiency does not result in deficiency of enzymes involved in cholesterol biosynthesis.

scientific article

Peroxisome mosaics.

scientific article

PeroxisomeDB: a database for the peroxisomal proteome, functional genomics and disease

scientific article published on 28 November 2006

Peroxisomes and Their Central Role in Metabolic Interaction Networks in Humans

scientific article published on 01 January 2018

Peroxisomes contribute to the acylcarnitine production when the carnitine shuttle is deficient

scientific article published on 10 July 2013

Phospholipid abnormalities in children with Barth syndrome

scientific article

Phosphomevalonate kinase is a cytosolic protein in humans

scientific article

Phytanic acid alpha-oxidation, new insights into an old problem: a review

scientific article

Phytanic acid metabolism in health and disease

scientific article published on 13 June 2011

Pitfalls of neonatal screening for very-long-chain acyl-CoA dehydrogenase deficiency using tandem mass spectrometry

scientific article published on 01 July 2006

Plasmalogens participate in very-long-chain fatty acid-induced pathology

scientific article published on 20 November 2008

Position statement on the role of healthcare professionals, patient organizations and industry in European Reference Networks.

scientific article published on 25 January 2016

Primary hyperoxaluria remains undiagnosed in patients with hyperoxaluria and recurrent urolithiasis

scientific article published on 01 August 2007

Primary hyperoxaluria type 1 in The Netherlands: prevalence and outcome

scientific article

Proteomic analysis of mouse kidney peroxisomes: identification of RP2p as a peroxisomal nudix hydrolase with acyl-CoA diphosphatase activity

scientific article published on January 2006

Proteomic and Biochemical Studies of Lysine Malonylation Suggest Its Malonic Aciduria-associated Regulatory Role in Mitochondrial Function and Fatty Acid Oxidation

scientific article

Proteomics characterization of mouse kidney peroxisomes by tandem mass spectrometry and protein correlation profiling

scientific journal article

Pyruvate uptake is inhibited by valproic acid and metabolites in mitochondrial membranes

scientific article

Quantitative and compositional study of cardiolipin in platelets by electrospray ionization mass spectrometry: application for the identification of Barth syndrome patients.

scientific article published in September 2002

Rapid prenatal diagnosis of fetal Zellweger syndrome by biochemical tests, complementation studies, and molecular analyses

scientific article published on 9 January 2013

Real-Time Nucleic Acid Sequence-Based Amplification Assay to Quantify Changes in Mitochondrial DNA Concentrations in Cell Cultures and Blood Cells from HIV-Infected Patients Receiving Antiviral Therapy

article

Red blood cell polyunsaturated fatty acids measured in red blood cells and schizophrenia: A meta-analysis ⬇️

scientific article published on October 13, 2012

Regulation of isoprenoid/cholesterol biosynthesis in cells from mevalonate kinase-deficient patients

scientific article published on 10 December 2002

Regulation of sterol carrier protein gene expression by the forkhead transcription factor FOXO3a

scientific article (publication date: 2004)

Relapsing encephalopathy in a patient with α-methylacyl-CoA racemase deficiency

scientific article

Reply: Age-dependent penetrance among females with X-linked adrenoleukodystrophy

scientific article published on 22 August 2014

Resolution of the molecular defect in a patient with peroxisomal mosaicism in the liver.

scientific article published on January 2003

Reversal of mouse Acyl-CoA oxidase 1 (ACOX1) null phenotype by human ACOX1b isoform [corrected]

scientific article

Rhizomelic chondrodysplasia punctata and cardiac pathology.

scientific article

Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an old gene

article

Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency: data from a cohort study

scientific article

Role of Pex19p in the targeting of PMP70 to peroxisome

scientific article

Role of isovaleryl-CoA dehydrogenase and short branched-chain acyl-CoA dehydrogenase in the metabolism of valproic acid: implications for the branched-chain amino acid oxidation pathway

scientific article

Short-Chain Acyl-CoA Dehydrogenase Deficiency: Studies in a Large Family Adding to the Complexity of the Disorder ⬇️

scientific article (publication date: November 2003)

Short/branched-chain acyl-CoA dehydrogenase deficiency due to an IVS3+3A>G mutation that causes exon skipping

scientific article

Single-base substitution at the last nucleotide of exon 6 (c.671G>A), resulting in the skipping of exon 6, and exons 6 and 7 in human succinyl-CoA:3-ketoacid CoA transferase (SCOT) gene

scientific article published on 13 December 2006

Sjögren–Larsson syndrome in clinical practice ⬇️

scientific article published on July 26, 2012

Spastic diplegia and periventricular white matter abnormalities in 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, a defect of isoleucine metabolism: differential diagnosis with hypoxic-ischemic brain diseases

scientific article published in April 2004

Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency

scientific article published on 22 November 2012

Spectrum of PEX6 mutations in Zellweger syndrome spectrum patients

scientific article published on January 2010

Studies on the extra-mitochondrial CoA-ester formation of valproic and Δ4-valproic acids

scientific article published on 23 January 2007

Studies on the metabolic fate of n-3 polyunsaturated fatty acids

scientific article published in August 2003

Studying fatty aldehyde metabolism in living cells with pyrene-labeled compounds

scientific article

Submitochondrial localization of 6-N-trimethyllysine dioxygenase - implications for carnitine biosynthesis

scientific article published on 18 October 2007

Substrate specificity of human carnitine acetyltransferase: Implications for fatty acid and branched-chain amino acid metabolism.

scientific article

Succinyl-CoA ligase deficiency: a mitochondrial hepatoencephalomyopathy

scientific article

Temperature dependence of mutant mevalonate kinase activity as a pathogenic factor in hyper-IgD and periodic fever syndrome

scientific article published on December 2002

The Arabidopsis peroxisomal ABC transporter, comatose, complements the Saccharomyces cerevisiae pxa1 pxa2Delta mutant for metabolism of long-chain fatty acids and exhibits fatty acyl-CoA-stimulated ATPase activity ⬇️

scientific article published on 21 July 2010

The Biochemistry and Physiology of Mitochondrial Fatty Acid β-Oxidation and Its Genetic Disorders

scientific article published on 14 October 2015

The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives ⬇️

scientific article published on October 29, 2012

The Effects of Long- or Medium-Chain Fat Diets on Glucose Tolerance and Myocellular Content of Lipid Intermediates in Rats

scientific article published on 01 July 2010

The chemical biology of branched-chain lipid metabolism

scientific article

The cholic acid extension study in Zellweger spectrum disorders: results and implications for therapy

scientific article published on 21 February 2019

The cystathionine beta-synthase variant c.844_845ins68 protects against CNS demyelination in X-linked adrenoleukodystrophy

scientific article published on 01 October 2006

The enzymology of mitochondrial fatty acid beta-oxidation and its application to follow-up analysis of positive neonatal screening results

scientific article published on 20 May 2010

The human TAZ gene complements mitochondrial dysfunction in the yeast taz1Delta mutant. Implications for Barth syndrome

scientific article

The human peroxisomal ABC half transporter ALDP functions as a homodimer and accepts acyl-CoA esters

scientific article

The impact of altered carnitine availability on acylcarnitine metabolism, energy expenditure and glucose tolerance in diet-induced obese mice.

scientific article

The important role of biochemical and functional studies in the diagnostics of peroxisomal disorders

scientific article published on 04 March 2016

The peroxisomal ABC transporter family

scientific article published on 13 October 2006

The peroxisomal lumen in Saccharomyces cerevisiae is alkaline

scientific article

The reduced expression of the HADH2 protein causes X-linked mental retardation, choreoathetosis, and abnormal behavior

scientific article

The role of ELOVL1 in very long-chain fatty acid homeostasis and X-linked adrenoleukodystrophy

scientific article

The role of the clinician in the multi-omics era: are you ready?

scientific article published on 23 January 2018

The significance of peroxisome function in chronological aging of Saccharomyces cerevisiae

scientific article published on 08 July 2013

Toxic response caused by a misfolding variant of the mitochondrial protein short-chain acyl-CoA dehydrogenase

scientific article published on 18 December 2010

Toxicity of peroxisomal C27-bile acid intermediates

scientific article

Transient decrease of hepatic NAD+ and amino acid alterations during treatment with valproate: new insights on drug-induced effects in vivo using targeted MS-based metabolomics

Typical cMRI pattern as diagnostic clue for D-bifunctional protein deficiency without apparent biochemical abnormalities in plasma

Valproic acid induces antioxidant effects in X-linked adrenoleukodystrophy

scientific article published on 23 February 2010

Valproic acid metabolites inhibit dihydrolipoyl dehydrogenase activity leading to impaired 2-oxoglutarate-driven oxidative phosphorylation

scientific article published on 10 July 2007

Valproyl-CoA inhibits the activity of ATP- and GTP-dependent succinate:CoA ligases.

scientific article

Valproyl-dephosphoCoA: a novel metabolite of valproate formed in vitro in rat liver mitochondria

scientific article published in November 2004

Variations in IBD (ACAD8) in Children with Elevated C4-Carnitine Detected by Tandem Mass Spectrometry Newborn Screening

scientific article published on 20 July 2006

Ventricular fibrillation without overt cardiomyopathy as first presentation of organic cation transporter 2-deficiency in adolescence

scientific article

X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management.

scientific article

X-linked adrenoleukodystrophy in women: a cross-sectional cohort study.

scientific article published on 29 January 2014

X-linked adrenoleukodystrophy: very long-chain fatty acid metabolism, ABC half-transporters and the complicated route to treatment

scientific article published on 7 November 2006

X-linked adrenomyeloneuropathy due to a novel missense mutation in the ABCD1 start codon presenting as demyelinating neuropathy

scientific article published in December 2011

X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update

scientific article

Zellweger Spectrum Disorder with Mild Phenotype Caused by PEX2 Gene Mutations

scientific article published on 29 January 2012

Zellweger spectrum disorders: clinical manifestations in patients surviving into adulthood

scientific article

Zellweger spectrum disorders: clinical overview and management approach

scientific article

Zellweger syndrome resulting from maternal isodisomy of chromosome 1

scientific article published on 01 September 2007

[Recurrent rhabdomyolysis: screening for underlying disease]

scientific article published on 01 January 2010

dif-1 and colt, both implicated in early embryonic development, encode carnitine acylcarnitine translocase

scientific article published in April 2005

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