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

artículo científico publicado el 14 de abril de 2003

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

artículo científico publicado en 2005

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

artículo científico publicado en 2002

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

artículo científico publicado en 2012

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

artículo científico publicado en 2010

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

artículo científico publicado en 2010

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

artículo científico publicado en 2008

A lethal defect of mitochondrial and peroxisomal fission

artículo científico publicado en 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

artículo científico publicado en 2002

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

artículo científico publicado el 1 de septiembre de 2010

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

artículo científico publicado en 2009

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

artículo científico publicado en 2010

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

artículo científico publicado en 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

artículo científico publicado en 2007

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

artículo científico publicado en 2016

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

artículo científico publicado en 2002

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

artículo científico publicado en 2015

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

artículo científico publicado en 2017

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

artículo científico publicado en 2006

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

artículo científico publicado en 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

artículo científico publicado en 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 ⬇️

artículo científico publicado el 5 de octubre de 2010

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

artículo científico publicado en 2003

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

artículo científico publicado en 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.

artículo científico publicado en 2011

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

artículo científico publicado en 2016

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

artículo científico publicado en 2017

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

artículo científico publicado en 2004

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

artículo científico publicado en 2014

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

artículo científico publicado en 2002

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

artículo científico publicado en 2017

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

artículo científico publicado en 2010

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

artículo científico publicado en 2010

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

artículo científico publicado en 2011

Alpha-oxidation

artículo científico publicado en 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

artículo científico publicado en 2013

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

artículo científico publicado en 2006

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

artículo científico publicado en 2002

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

artículo científico publicado en 2004

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

artículo científico publicado en 2010

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

artículo científico publicado en 2013

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

artículo científico publicado en 2005

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

artículo científico publicado en 2008

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

artículo científico publicado en 2003

Bezafibrate for X-linked adrenoleukodystrophy

artículo científico publicado en 2012

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

artículo científico publicado en 2012

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

artículo científico publicado en 2007

Bile acids: the role of peroxisomes

artículo científico publicado en 2009

Biochemical aspects of X-linked adrenoleukodystrophy.

artículo científico publicado en 2010

Biochemical markers predicting survival in peroxisome biogenesis disorders.

artículo científico publicado en 2003

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 ⬇️

artículo científico publicado en 2011

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

artículo científico publicado en 2016

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

artículo científico publicado en 2016

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

artículo científico publicado en 2002

Carnitine biosynthesis in mammals

artículo científico publicado en 2002

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

artículo científico publicado en 2013

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

artículo científico publicado en 2015

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

artículo científico publicado en 2008

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

artículo científico publicado en 2003

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

artículo científico publicado en 2007

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

artículo científico publicado en 2003

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

artículo científico publicado en 2011

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

artículo científico publicado en 2008

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

artículo científico publicado en 2005

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

artículo científico publicado en 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

artículo científico publicado en 2003

Clinical and Biochemical Pitfalls in the Diagnosis of Peroxisomal Disorders

artículo científico publicado en 2016

Clinical and Laboratory Diagnosis of Peroxisomal Disorders

artículo científico publicado en 2017

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

artículo científico publicado en 2015

Clinical and biochemical spectrum of D-bifunctional protein deficiency

artículo científico publicado en 2006

Clinical aspects of short-chain acyl-CoA dehydrogenase deficiency

artículo científico publicado en 2010

Clinical implications of mutation analysis in primary hyperoxaluria type 1.

artículo científico publicado en 2004

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

artículo científico publicado en 2002

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

artículo científico publicado en 2006

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

artículo científico publicado en 2006

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

artículo científico publicado en 2007

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

artículo científico publicado en 2013

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

artículo científico publicado en 2017

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

scientific journal article

Complex lipids

artículo científico publicado en 2015

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

artículo científico publicado en 2012

Demonstration and characterization of phosphate transport in mammalian peroxisomes

artículo científico publicado en 2005

Demonstration of bile acid transport across the mammalian peroxisomal membrane

artículo científico publicado en 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

artículo científico publicado en 2005

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

artículo científico publicado el 8 de diciembre de 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

artículo científico publicado en 2014

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

artículo científico publicado en 2005

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

artículo científico publicado en 2014

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

artículo científico publicado en 2008

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

artículo científico publicado en 2010

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

artículo científico publicado en 2005

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

artículo científico publicado en 2017

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

artículo científico publicado en 2003

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

artículo científico publicado en 2005

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

artículo científico publicado en 2014

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

artículo científico publicado en 2010

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

artículo científico publicado el 13 de diciembre de 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

artículo científico publicado en 2006

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

artículo científico publicado en 2010

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

artículo científico publicado en 2014

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

artículo científico publicado en 2005

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

artículo científico

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

artículo científico publicado en 2012

Functions and biosynthesis of plasmalogens in health and disease.

artículo científico publicado en 2004

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

artículo científico publicado en 2003

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

artículo científico publicado en 2003

Genetic basis of alpha-aminoadipic and alpha-ketoadipic aciduria

artículo científico publicado en 2015

Genetic basis of hyperlysinemia

artículo científico publicado en 2013

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

artículo científico publicado el 1 de enero de 2011

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

artículo científico publicado en 2009

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

artículo científico publicado en 2013

High incidence of hyperoxaluria in generalized peroxisomal disorders

artículo científico publicado en 2006

Human disorders of peroxisome metabolism and biogenesis

artículo científico publicado en 2015

Human mevalonate pyrophosphate decarboxylase is localized in the cytosol

artículo científico publicado en 2004

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

artículo científico publicado en 2013

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

artículo científico publicado en 2006

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

artículo científico publicado en 2009

Identification and characterization of human cardiolipin synthase

artículo científico publicado en 2006

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

artículo científico publicado en 2017

Identification of PEX7 as the second gene involved in Refsum disease

artículo científico publicado en 2003

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

artículo científico publicado en 2004

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

artículo científico publicado en 2010

Identification of enzymes involved in oxidation of phenylbutyrate

artículo científico publicado en 2017

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

artículo científico publicado en 2004

Identification of novel mutations in classical galactosemia

artículo científico publicado en 2005

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

artículo científico publicado en 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

artículo científico publicado en 2004

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

artículo científico publicado en 2002

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

artículo científico publicado en 2004

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

artículo científico publicado en 2003

Impaired Bile Acid Homeostasis in Children with Severe Acute Malnutrition

artículo científico publicado en 2016

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

artículo científico publicado en 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.

artículo científico publicado en 2012

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

artículo científico publicado en 2012

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

artículo científico publicado en 2005

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

artículo científico publicado en 2008

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

artículo científico publicado en 2006

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

artículo científico publicado en 2009

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

artículo científico publicado en 2005

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

artículo científico publicado en 2013

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

artículo científico publicado en 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

artículo científico publicado en 2007

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

artículo científico publicado en 2002

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

artículo científico publicado en 2017

Lipid-induced endoplasmic reticulum stress in X-linked adrenoleukodystrophy

artículo científico publicado en 2017

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

artículo científico publicado en 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

artículo científico publicado en 2002

Lovastatin in X-linked adrenoleukodystrophy

artículo científico publicado en 2010

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

artículo científico publicado el 1 de septiembre de 2003

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

artículo científico publicado en 2011

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

artículo científico publicado en 2006

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

artículo científico publicado en 2006

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

artículo científico publicado en 2015

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

artículo científico publicado en 2015

Metabolite transport across the peroxisomal membrane

artículo científico publicado en 2007

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

artículo científico publicado en 2004

Mevalonate kinase deficiency: enlarging the clinical and biochemical spectrum

artículo científico publicado en 2003

Mevalonate kinase is a cytosolic enzyme in humans

artículo científico publicado en 2004

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

artículo científico publicado en 2014

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

artículo científico publicado en 2009

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

artículo científico publicado en 2014

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

artículo científico publicado en 2015

Mitochondrial trifunctional protein deficiency with recurrent rhabdomyolysis.

artículo científico publicado en 2009

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

artículo científico publicado en 2003

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

artículo científico publicado en 2014

Modern theories of metabolic control and their applications

artículo científico publicado en 1984

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

artículo científico publicado en 2004

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

artículo científico publicado en 2005

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

artículo científico publicado en 2009

Monocarboxylate transporter 1 deficiency and ketone utilization

artículo científico publicado en 2014

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

artículo científico publicado en 2005

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

artículo científico publicado en 2002

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

artículo científico publicado en 2005

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

artículo científico publicado en 2013

Mutations in PEX10 are a cause of autosomal recessive ataxia.

artículo científico publicado en 2010

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

artículo científico publicado en 2006

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

artículo científico publicado en 2006

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

artículo científico publicado en 2012

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

artículo científico publicado en 2006

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

artículo científico publicado en 2010

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

artículo científico publicado en 2011

Novel metabolic and molecular findings in hepatic carnitine palmitoyltransferase I deficiency

artículo científico publicado en 2005

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

artículo científico publicado en 2009

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

artículo científico publicado el 1 de febrero de 2004

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

artículo científico publicado en 2003

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

artículo científico publicado en 2003

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

artículo científico publicado en 2017

PEX1 deficiency presenting as Leber congenital amaurosis

artículo científico publicado en 2004

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

artículo científico publicado en 2007

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

artículo científico publicado en 2002

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

artículo científico publicado en 2016

Peripheral nervous system plasmalogens regulate Schwann cell differentiation and myelination

artículo científico publicado en 2014

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

scientific article published on 19 February 2014

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

artículo científico publicado en 2012

Peroxisomal acyl-CoA-oxidase deficiency: two new cases

artículo científico publicado en 2008

Peroxisomal alterations in Alzheimer's disease

artículo científico publicado en 2011

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

artículo científico publicado en 2005

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

artículo científico publicado en 2018

Peroxisomal disorders: the single peroxisomal enzyme deficiencies

artículo científico publicado en 2006

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

artículo científico publicado en 2003

Peroxisomal fatty acid uptake mechanism in Saccharomyces cerevisiae

artículo científico publicado en 2012

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

artículo científico publicado en 2004

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

artículo científico publicado en 2003

Peroxisome mosaics.

artículo científico publicado en 2003

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

artículo científico publicado en 2006

Peroxisomes and Their Central Role in Metabolic Interaction Networks in Humans

artículo científico publicado en 2018

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

artículo científico publicado en 2013

Phospholipid abnormalities in children with Barth syndrome

artículo científico publicado en 2003

Phosphomevalonate kinase is a cytosolic protein in humans

artículo científico publicado en 2004

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

artículo científico publicado en 2003

Phytanic acid metabolism in health and disease

artículo científico publicado en 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

artículo científico publicado en 2008

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

artículo científico publicado en 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

artículo científico publicado en 2003

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

artículo científico publicado en 2006

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

artículo científico publicado en 2015

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

artículo científico publicado en 2008

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

artículo científico publicado en 2002

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

artículo científico publicado en 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

artículo científico

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

artículo científico publicado en 2002

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

artículo científico publicado en 2004

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

artículo científico publicado en 2009

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

artículo científico publicado en 2014

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

artículo científico publicado en 2003

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

artículo científico publicado en 2010

Rhizomelic chondrodysplasia punctata and cardiac pathology.

artículo científico publicado en 2013

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

artículo científico publicado en 2012

Role of Pex19p in the targeting of PMP70 to peroxisome

artículo científico publicado en 2005

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

artículo científico publicado en 2011

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

artículo científico publicado el 1 de noviembre de 2003

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

artículo científico publicado en 2006

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

artículo científico publicado en 2006

Sjögren-Larsson syndrome in clinical practice

artículo científico publicado en 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

artículo científico publicado en 2004

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

artículo científico publicado en 2012

Spectrum of PEX6 mutations in Zellweger syndrome spectrum patients

artículo científico publicado en 2010

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

artículo científico publicado en 2007

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

artículo científico publicado en 2003

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

artículo científico publicado en 2012

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

artículo científico publicado en 2007

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

artículo científico publicado en 2013

Succinyl-CoA ligase deficiency: a mitochondrial hepatoencephalomyopathy

artículo científico publicado en 2010

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

artículo científico publicado en 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 ⬇️

artículo científico publicado en 2010

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

artículo científico

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

artículo científico publicado en 2012

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

artículo científico publicado en 2010

The chemical biology of branched-chain lipid metabolism

artículo científico publicado en 2003

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

artículo científico publicado en 2019

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

artículo científico publicado en 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

artículo científico publicado en 2004

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

artículo científico publicado en 2008

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

artículo científico publicado en 2016

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

artículo científico publicado en 2016

The peroxisomal ABC transporter family

artículo científico publicado en 2006

The peroxisomal lumen in Saccharomyces cerevisiae is alkaline

artículo científico publicado en 2004

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

artículo científico publicado en 2007

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

artículo científico publicado en 2010

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

artículo científico publicado en 2018

The significance of peroxisome function in chronological aging of Saccharomyces cerevisiae

artículo científico publicado en 2013

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

artículo científico publicado en 2010

Toxicity of peroxisomal C27-bile acid intermediates

artículo científico publicado en 2009

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

artículo científico publicado en 2010

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

artículo científico publicado en 2007

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

artículo científico publicado en 2013

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

artículo científico publicado en 2004

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

artículo científico publicado en 2006

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

artículo científico publicado en 2004

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

artículo científico publicado en 2012

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

artículo científico publicado en 2014

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

artículo científico publicado en 2006

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

artículo científico publicado en 2011

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

artículo científico publicado en 2004

Zellweger Spectrum Disorder with Mild Phenotype Caused by PEX2 Gene Mutations

artículo científico publicado en 2012

Zellweger spectrum disorders: clinical manifestations in patients surviving into adulthood

artículo científico publicado en 2015

Zellweger spectrum disorders: clinical overview and management approach

artículo científico publicado en 2015

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.

artículo científico publicado en 2005

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