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Peroxisomal disorders I: biochemistry and genetics of peroxisome biogenesis disorders

Clinical genetics, 2005-02, Vol.67 (2), p.107-133

2005

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The Inflammatory Response in Acyl-CoA Oxidase 1 Deficiency (Pseudoneonatal Adrenoleukodystrophy)

Endocrinology (Philadelphia), 2012-06, Vol.153 (6), p.2568-2575

2012

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MRI as diagnostic tool in early-onset peroxisomal disorders

Neurology, 2012-04, Vol.78 (17), p.1304-1308

2012

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Clinical variability of isovaleric acidemia in a genetically homogeneous population

Journal of inherited metabolic disease, 2012-11, Vol.35 (6), p.1021-1029

2012

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Fatty acid metabolism in Saccharomyces cerevisiae

Cellular and molecular life sciences : CMLS, 2003-09, Vol.60 (9), p.1838-1851

2003

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Isoprenoid biosynthesis in hereditary periodic fever syndromes and inflammation

Cellular and molecular life sciences : CMLS, 2003-06, Vol.60 (6), p.1118-1134

2003

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Relapsing rhabdomyolysis due to peroxisomal alpha-methylacyl-coa racemase deficiency

Neurology, 2010-10, Vol.75 (14), p.1300-1302

2010

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Compromized geranylgeranylation of RhoA and Rac1 in mevalonate kinase deficiency

Journal of inherited metabolic disease, 2010-10, Vol.33 (5), p.625-632

2010

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

Nature genetics, 1999-06, Vol.22 (2), p.175-177

1999

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Subcellular localization and physiological role of alpha-methylacyl-CoA racemase

Journal of lipid research, 2000-11, Vol.41 (11), p.1890-1896

2000

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Inherited disorders of cholesterol biosynthesis

Clinical genetics, 2002-06, Vol.61 (6), p.393-403

Waterham, HR

2002

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A Tanzanian Boy with Molecularly Confirmed X-Linked Adrenoleukodystrophy

Case reports in genetics, 2019, Vol.2019 (2019), p.1-5

2019

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Neonatal screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in The Netherlands: The importance of enzyme analysis to ascertain true MCAD deficiency

Journal of inherited metabolic disease, 2008-02, Vol.31 (1), p.88-96

2008

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

Nature genetics, 2000-02, Vol.24 (2), p.188-191

2000

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A dominant activating RAC2 variant associated with immunodeficiency and pulmonary disease

Clinical immunology (Orlando, Fla.), 2020-03, Vol.212, p.108248, Article 108248

2020

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Identification of human PMP34 as a peroxisomal ATP transporter

Biochemical and biophysical research communications, 2002-12, Vol.299 (3), p.494-497

2002

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Smith-Lemli-Opitz Syndrome Is Caused by Mutations in the 7-Dehydrocholesterol Reductase Gene

American journal of human genetics, 1998-08, Vol.63 (2), p.329-338

1998

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

Journal of medical genetics, 2010-09, Vol.47 (9), p.608-615

2010

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Late-onset multiple acyl-CoA dehydrogenase deficiency: a frequently missed diagnosis?

Neurology, 2006-10, Vol.67 (8), p.1519-1519

2006

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Clinical and molecular variability in childhood periodic fever with hyperimmunoglobulinaemia D

British journal of rheumatology, 2001-05, Vol.40 (5), p.579-584

2001

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

Brain (London, England : 1878), 2009-02, Vol.132 (2), p.482-492

2009

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Development and validation of a severity scoring system for Zellweger spectrum disorders

Clinical genetics, 2018-03, Vol.93 (3), p.613-621

2018

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Identification of a Peroxisomal ATP Carrier Required for Medium-Chain Fatty Acid β-Oxidation and Normal Peroxisome Proliferation in Saccharomyces cerevisiae

Molecular and Cellular Biology, 2001-07, Vol.21 (13), p.4321-4329

2001

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Smith‐Lemli‐Opitz Syndrome and the DHCR7 Gene

Annals of human genetics, 2003-05, Vol.67 (3), p.269-280

2003

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High activity of fatty acid oxidation enzymes in human placenta: Implications for fetal‐maternal disease

Journal of inherited metabolic disease, 2003-01, Vol.26 (4), p.385-392

2003

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Peroxisomal disorders I: biochemistry and genetics of peroxisome biogenesis disorders

The Inflammatory Response in Acyl-CoA Oxidase 1 Deficiency (Pseudoneonatal Adrenoleukodystrophy)

MRI as diagnostic tool in early-onset peroxisomal disorders

Clinical variability of isovaleric acidemia in a genetically homogeneous population

Fatty acid metabolism in Saccharomyces cerevisiae

Isoprenoid biosynthesis in hereditary periodic fever syndromes and inflammation

Relapsing rhabdomyolysis due to peroxisomal alpha-methylacyl-coa racemase deficiency

Compromized geranylgeranylation of RhoA and Rac1 in mevalonate kinase deficiency

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

Subcellular localization and physiological role of alpha-methylacyl-CoA racemase

Inherited disorders of cholesterol biosynthesis

A Tanzanian Boy with Molecularly Confirmed X-Linked Adrenoleukodystrophy

Neonatal screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in The Netherlands: The importance of enzyme analysis to ascertain true MCAD deficiency

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

A dominant activating RAC2 variant associated with immunodeficiency and pulmonary disease

Identification of human PMP34 as a peroxisomal ATP transporter

Smith-Lemli-Opitz Syndrome Is Caused by Mutations in the 7-Dehydrocholesterol Reductase Gene

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

Late-onset multiple acyl-CoA dehydrogenase deficiency: a frequently missed diagnosis?

Clinical and molecular variability in childhood periodic fever with hyperimmunoglobulinaemia D

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

Development and validation of a severity scoring system for Zellweger spectrum disorders

Identification of a Peroxisomal ATP Carrier Required for Medium-Chain Fatty Acid β-Oxidation and Normal Peroxisome Proliferation in Saccharomyces cerevisiae

Smith‐Lemli‐Opitz Syndrome and the DHCR7 Gene

High activity of fatty acid oxidation enzymes in human placenta: Implications for fetal‐maternal disease

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