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1 April 1996
PRENATAL DIAGNOSIS OF PEROXISOMAL DISORDERS. † 869
- Ruud B.H Schutqens
- & Ronald J.A Wanders
Pediatric Research 39 , 147–147

Rights & permissionsfor article PRENATAL DIAGNOSIS OF PEROXISOMAL DISORDERS. † 869 . Opens in a new window.
Research | 1 June 1999
Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome
Nature Genetics 22 , 175–177

Rights & permissionsfor article Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome . Opens in a new window.
1 November 1992
IMPAIRED DEGRADATION OF LEUKOTRIENES IN PATIENTS WITH PEROXISOMAL DEFICIENCY DISORDERS
Pediatric Research 32 , 627–627

Rights & permissionsfor article IMPAIRED DEGRADATION OF LEUKOTRIENES IN PATIENTS WITH PEROXISOMAL DEFICIENCY DISORDERS . Opens in a new window.
News and Views | 1 November 1998
A happier sequel to Lorenzo's Oil?
- Ronald J. A. Wanders
Nature Medicine 4 , 1245–1246

Rights & permissionsfor article A happier sequel to Lorenzo's Oil? . Opens in a new window.
1 August 1988
118: MULTIPLE PEROXISOMAL ENZYME DEFICIENCIES IN RHIZOMELIC CHONDRODYSPLASIA PUNCTATA
Pediatric Research 24 , 280–280

Rights & permissionsfor article 118: MULTIPLE PEROXISOMAL ENZYME DEFICIENCIES IN RHIZOMELIC CHONDRODYSPLASIA PUNCTATA . Opens in a new window.
1 November 1992
PEROXISOMAL DYSFUNCTION IN A HETEROGENEOUS GROUP OF CHONDRODYSPLASIA PUNCTATA (CP) SYNDROMES
Pediatric Research 32 , 621–621

Rights & permissionsfor article PEROXISOMAL DYSFUNCTION IN A HETEROGENEOUS GROUP OF CHONDRODYSPLASIA PUNCTATA (CP) SYNDROMES . Opens in a new window.
Research | 10 December 1999
Peroxisomes in human fibroblasts have a basic pH
Nature Cell Biology 2 , 51–53

Rights & permissionsfor article Peroxisomes in human fibroblasts have a basic pH . Opens in a new window.
Research | 19 July 2019 | Open
Mutagenesis separates ATPase and thioesterase activities of the peroxisomal ABC transporter, Comatose
Scientific Reports 9 , 1–13

Rights & permissionsfor article Mutagenesis separates ATPase and thioesterase activities of the peroxisomal ABC transporter, Comatose . Opens in a new window.
Research | 8 August 2018
Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis
European Journal of Human Genetics 26 , 1752–1758

Rights & permissionsfor article Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis . Opens in a new window.
Research | 19 September 2017 | Open
Two NAD-linked redox shuttles maintain the peroxisomal redox balance in Saccharomyces cerevisiae
Scientific Reports 7 , 1–9

Rights & permissionsfor article Two NAD-linked redox shuttles maintain the peroxisomal redox balance in Saccharomyces cerevisiae . Opens in a new window.
1 September 2006
Variations in IBD (ACAD8) in Children with Elevated C₄-Carnitine Detected by Tandem Mass Spectrometry Newborn Screening
- Christina B Pedersen
- , Claus Bischoff
- , Ernst Christensen
- , Henrik Simonsen
- , Allan M Lund
- , Sarah P Young
- , Dwight D Koeberl
- , David S Millington
- , Charles R Roe
- , Diane S Roe
- , Ronald J A Wanders
- , Jos P N Ruiter
- , Laura D Keppen
- , Quinn Stein
- , Inga Knudsen
- , Niels Gregersen
- & Brage S Andresen
Pediatric Research 60 , 315–320

Rights & permissionsfor article Variations in IBD (ACAD8) in Children with Elevated C4-Carnitine Detected by Tandem Mass Spectrometry Newborn Screening . Opens in a new window.
1 July 1994
β-Oxidation Enzymes in Fibroblasts from Patients with 3-Hydroxydicarboxylic Aciduria
Pediatric Research 36 , 111–114

Rights & permissionsfor article β-Oxidation Enzymes in Fibroblasts from Patients with 3-Hydroxydicarboxylic Aciduria . Opens in a new window.
Research | 14 February 2003
Carrier frequency of the V377I (1129G>A) MVK mutation, associated with Hyper-IgD and periodic fever syndrome, in the Netherlands
European Journal of Human Genetics 11 , 196–200

Rights & permissionsfor article Carrier frequency of the V377I (1129G>A) MVK mutation, associated with Hyper-IgD and periodic fever syndrome, in the Netherlands . Opens in a new window.
Research | 1 June 2003
Characteristic Acylcarnitine Profiles in Inherited Defects of Peroxisome Biogenesis: A Novel Tool for Screening Diagnosis Using Tandem Mass Spectrometry
Pediatric Research 53 , 1013–1018

Rights & permissionsfor article Characteristic Acylcarnitine Profiles in Inherited Defects of Peroxisome Biogenesis: A Novel Tool for Screening Diagnosis Using Tandem Mass Spectrometry . Opens in a new window.
Research | 1 December 2000
Progressive Infantile Neurodegeneration Caused by 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency: A Novel Inborn Error of Branched-Chain Fatty Acid and Isoleucine Metabolism
Pediatric Research 48 , 852–855

Rights & permissionsfor article Progressive Infantile Neurodegeneration Caused by 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency: A Novel Inborn Error of Branched-Chain Fatty Acid and Isoleucine Metabolism . Opens in a new window.
1 August 2010
Succinyl-CoA Ligase Deficiency: A Mitochondrial Hepatoencephalomyopathy
- Johan L K Van Hove
- , Margarita S Saenz
- , Janet A Thomas
- , Renata C Gallagher
- , Mark A Lovell
- , Laura Z Fenton
- , Sarah Shanske
- , Sommer M Myers
- , Ronald J A Wanders
- , Jos Ruiter
- , Marjolein Turkenburg
- & Hans R Waterham
Pediatric Research 68 , 159–164

Rights & permissionsfor article Succinyl-CoA Ligase Deficiency: A Mitochondrial Hepatoencephalomyopathy . Opens in a new window.
Research | 1 October 1997
Refsum disease is caused by mutations in the phytanoyl–CoA hydroxylase gene
- Gerbert A. Jansen
- , Rob Oftnan
- , Sacha Ferdinandusse
- , Lodewijk Ijlst
- , Anton O. Muijsers
- , Ola H. Skjeldal
- , Oddvar Stokke
- , Cornells Jakobs
- , Guy T.N. Besley
- , J. Ed Wraith
- & Ronald J.A. Wanders
Nature Genetics 17 , 190–193

Rights & permissionsfor article Refsum disease is caused by mutations in the phytanoyl–CoA hydroxylase gene . Opens in a new window.
Research | 1 August 2005
Molecular Mechanism of a Temperature-Sensitive Phenotype in Peroxisomal Biogenesis Disorder
- Kazuyuki Hashimoto
- , Zenichiro Kato
- , Tomoko Nagase
- , Nobuyuki Shimozawa
- , Kazuo Kuwata
- , Kentaro Omoya
- , Ailian Li
- , Eiji Matsukuma
- , Yutaka Yamamoto
- , Hidenori Ohnishi
- , Hidehito Tochio
- , Masahiro Shirakawa
- , Yasuyuki Suzuki
- , Ronald J A Wanders
- & Naomi Kondo
Pediatric Research 58 , 263–269

Rights & permissionsfor article Molecular Mechanism of a Temperature-Sensitive Phenotype in Peroxisomal Biogenesis Disorder . Opens in a new window.
Research | 1 October 2000
Temperature-Sensitive Mutation of PEX6 in Peroxisome Biogenesis Disorders in Complementation Group C (CG-C): Comparative Study of PEX6 and PEX1
- Atsushi Imamura
- , Nobuyuki Shimozawa
- , Yasuyuki Suzuki
- , Zhongyi Zhang
- , Toshiro Tsukamoto
- , Yukio Fujiki
- , Tadao Orii
- , Takashi Osumi
- , Ronald J A Wanders
- & Naomi Kondo
Pediatric Research 48 , 541–545

Rights & permissionsfor article Temperature-Sensitive Mutation of PEX6 in Peroxisome Biogenesis Disorders in Complementation Group C (CG-C): Comparative Study of PEX6 and PEX1 . Opens in a new window.
Research | 1 April 1997
Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor
Nature Genetics 15 , 377–380

Rights & permissionsfor article Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor . Opens in a new window.
Research | 22 October 2003
Novel mutations in the PEX12 gene of patients with a peroxisome biogenesis disorder
European Journal of Human Genetics 12 , 115–120

Rights & permissionsfor article Novel mutations in the PEX12 gene of patients with a peroxisome biogenesis disorder . Opens in a new window.
1 March 2010
Flavin Adenine Dinucleotide Status and the Effects of High-Dose Riboflavin Treatment in Short-Chain Acyl-CoA Dehydrogenase Deficiency
Pediatric Research 67 , 304–308

Rights & permissionsfor article Flavin Adenine Dinucleotide Status and the Effects of High-Dose Riboflavin Treatment in Short-Chain Acyl-CoA Dehydrogenase Deficiency . Opens in a new window.
Research | 1 March 2004
Novel Mutations in the PEX2 Gene of Four Unrelated Patients with a Peroxisome Biogenesis Disorder
Pediatric Research 55 , 431–436

Rights & permissionsfor article Novel Mutations in the PEX2 Gene of Four Unrelated Patients with a Peroxisome Biogenesis Disorder . Opens in a new window.
1 August 1998
Analysis of Carnitine Esters by Radio-High Performance Liquid Chromatography in Cultured Skin Fibroblasts from Patients with Mitochondrial Fatty Acid Oxidation Disorders
Pediatric Research 44 , 210–214

Rights & permissionsfor article Analysis of Carnitine Esters by Radio-High Performance Liquid Chromatography in Cultured Skin Fibroblasts from Patients with Mitochondrial Fatty Acid Oxidation Disorders . Opens in a new window.
Research | 30 May 2007
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 °C
Journal of Human Genetics 52 , 599–606

Rights & permissionsfor article 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 °C . Opens in a new window.
Research | 1 February 2000
Mutations in the gene encoding peroxisomal α-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy
- Sacha Ferdinandusse
- , Simone Denis
- , Peter T. Clayton
- , Andrew Graham
- , John E. Rees
- , John T. Allen
- , Brendan N. McLean
- , Ann Y. Brown
- , Peter Vreken
- , Hans R. Waterham
- & Ronald J.A. Wanders
Nature Genetics 24 , 188–191

Rights & permissionsfor article Mutations in the gene encoding peroxisomal α-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy . Opens in a new window.
Research | 1 April 1993
Deficiency of the Adenine Nucleotide Translocator in Muscle of a Patient with Myopathy and Lactic Acidosis: A New Mitochondrial Defect
Pediatric Research 33 , 412–417

Rights & permissionsfor article Deficiency of the Adenine Nucleotide Translocator in Muscle of a Patient with Myopathy and Lactic Acidosis: A New Mitochondrial Defect . Opens in a new window.
Research | 1 June 2005
Long-Chain Fatty Acid Oxidation during Early Human Development
Pediatric Research 57 , 755–759

Rights & permissionsfor article Long-Chain Fatty Acid Oxidation during Early Human Development . Opens in a new window.
Research | 1 December 1990
Deficiency of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase: A Cause of Lethal Myopathy and Cardiomyopathy in Early Childhood
Pediatric Research 28 , 657–662

Rights & permissionsfor article Deficiency of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase: A Cause of Lethal Myopathy and Cardiomyopathy in Early Childhood . Opens in a new window.
Research | 1 September 2005
2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase (MHBD) Deficiency: An X-linked Inborn Error of Isoleucine Metabolism that May Mimic a Mitochondrial Disease
Pediatric Research 58 , 488–491

Rights & permissionsfor article 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase (MHBD) Deficiency: An X-linked Inborn Error of Isoleucine Metabolism that May Mimic a Mitochondrial Disease . Opens in a new window.
Research | 1 August 2000
Heterozygosity for the Common LCHAD Mutation (1528G>C) Is Not a Major Cause of HELLP Syndrome and the Prevalence of the Mutation in the Dutch Population Is Low
Pediatric Research 48 , 151–154

Rights & permissionsfor article Heterozygosity for the Common LCHAD Mutation (1528G>C) Is Not a Major Cause of HELLP Syndrome and the Prevalence of the Mutation in the Dutch Population Is Low . Opens in a new window.
Research | 2 May 2018 | Open
Systematic mapping of contact sites reveals tethers and a function for the peroxisome-mitochondria contact
- Nadav Shai
- , Eden Yifrach
- , Carlo W. T. van Roermund
- , Nir Cohen
- , Chen Bibi
- , Lodewijk IJlst
- , Laetitia Cavellini
- , Julie Meurisse
- , Ramona Schuster
- , Lior Zada
- , Muriel C. Mari
- , Fulvio M. Reggiori
- , Adam L. Hughes
- , Mafalda Escobar-Henriques
- , Mickael M. Cohen
- , Hans R. Waterham
- , Ronald J. A. Wanders
- , Maya Schuldiner
- & Einat Zalckvar
Nature Communications 9 , 1–13

Rights & permissionsfor article Systematic mapping of contact sites reveals tethers and a function for the peroxisome-mitochondria contact . Opens in a new window.
Research | 11 May 2014
Modeling the mitochondrial cardiomyopathy of Barth syndrome with induced pluripotent stem cell and heart-on-chip technologies
- Gang Wang
- , Megan L McCain
- , Luhan Yang
- , Aibin He
- , Francesco Silvio Pasqualini
- , Ashutosh Agarwal
- , Hongyan Yuan
- , Dawei Jiang
- , Donghui Zhang
- , Lior Zangi
- , Judith Geva
- , Amy E Roberts
- , Qing Ma
- , Jian Ding
- , Jinghai Chen
- , Da-Zhi Wang
- , Kai Li
- , Jiwu Wang
- , Ronald J A Wanders
- , Wim Kulik
- , Frédéric M Vaz
- , Michael A Laflamme
- , Charles E Murry
- , Kenneth R Chien
- , Richard I Kelley
- , George M Church
- , Kevin Kit Parker
- & William T Pu
Nature Medicine 20 , 616–623

Rights & permissionsfor article Modeling the mitochondrial cardiomyopathy of Barth syndrome with induced pluripotent stem cell and heart-on-chip technologies . Opens in a new window.

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PRENATAL DIAGNOSIS OF PEROXISOMAL DISORDERS. † 869

Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome

IMPAIRED DEGRADATION OF LEUKOTRIENES IN PATIENTS WITH PEROXISOMAL DEFICIENCY DISORDERS

A happier sequel to Lorenzo's Oil?

118: MULTIPLE PEROXISOMAL ENZYME DEFICIENCIES IN RHIZOMELIC CHONDRODYSPLASIA PUNCTATA

PEROXISOMAL DYSFUNCTION IN A HETEROGENEOUS GROUP OF CHONDRODYSPLASIA PUNCTATA (CP) SYNDROMES

Peroxisomes in human fibroblasts have a basic pH

Mutagenesis separates ATPase and thioesterase activities of the peroxisomal ABC transporter, Comatose

Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis

Two NAD-linked redox shuttles maintain the peroxisomal redox balance in Saccharomyces cerevisiae

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

β-Oxidation Enzymes in Fibroblasts from Patients with 3-Hydroxydicarboxylic Aciduria

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

Characteristic Acylcarnitine Profiles in Inherited Defects of Peroxisome Biogenesis: A Novel Tool for Screening Diagnosis Using Tandem Mass Spectrometry

Progressive Infantile Neurodegeneration Caused by 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency: A Novel Inborn Error of Branched-Chain Fatty Acid and Isoleucine Metabolism

Succinyl-CoA Ligase Deficiency: A Mitochondrial Hepatoencephalomyopathy

Refsum disease is caused by mutations in the phytanoyl–CoA hydroxylase gene

Molecular Mechanism of a Temperature-Sensitive Phenotype in Peroxisomal Biogenesis Disorder

Temperature-Sensitive Mutation of PEX6 in Peroxisome Biogenesis Disorders in Complementation Group C (CG-C): Comparative Study of PEX6 and PEX1

Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor

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

Flavin Adenine Dinucleotide Status and the Effects of High-Dose Riboflavin Treatment in Short-Chain Acyl-CoA Dehydrogenase Deficiency

Novel Mutations in the PEX2 Gene of Four Unrelated Patients with a Peroxisome Biogenesis Disorder

Analysis of Carnitine Esters by Radio-High Performance Liquid Chromatography in Cultured Skin Fibroblasts from Patients with Mitochondrial Fatty Acid Oxidation Disorders

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 °C

Mutations in the gene encoding peroxisomal α-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy

Deficiency of the Adenine Nucleotide Translocator in Muscle of a Patient with Myopathy and Lactic Acidosis: A New Mitochondrial Defect

Long-Chain Fatty Acid Oxidation during Early Human Development

Deficiency of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase: A Cause of Lethal Myopathy and Cardiomyopathy in Early Childhood

2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase (MHBD) Deficiency: An X-linked Inborn Error of Isoleucine Metabolism that May Mimic a Mitochondrial Disease

Heterozygosity for the Common LCHAD Mutation (1528G>C) Is Not a Major Cause of HELLP Syndrome and the Prevalence of the Mutation in the Dutch Population Is Low

Systematic mapping of contact sites reveals tethers and a function for the peroxisome-mitochondria contact

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

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