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A Lethal Defect of Mitochondrial and Peroxisomal Fission

The New England journal of medicine, 2007-04, Vol.356 (17), p.1736-1741

2007

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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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Clinical and biochemical spectrum of D-bifunctional protein deficiency

Annals of neurology, 2006-01, Vol.59 (1), p.92-104

2006

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

Journal of medical genetics, 2017-05, Vol.54 (5), p.330

2017

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

Orphanet journal of rare diseases, 2012-11, Vol.7 (1), p.90-90, Article 90

2012

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

American journal of physiology: endocrinology and metabolism, 2009-01, Vol.296 (1), p.E211-E221

2009

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Biochemical Studies in Fibroblasts to Interpret Variants of Unknown Significance in the ABCD1 Gene

Genes, 2021-11, Vol.12 (12), p.1930

2021

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

Human molecular genetics, 2003-09, Vol.12 (18), p.2255-2267

2003

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

Human mutation, 2009, Vol.30 (1), p.93-98

2009

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

Human molecular genetics, 2005-12, Vol.14 (23), p.3565-3577

2005

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

Clinical chemistry (Baltimore, Md.), 2004-10, Vol.50 (10), p.1824-1826

2004

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

Molecular genetics and metabolism, 2005-02, Vol.84 (2), p.144-151

2005

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

Human mutation, 2011-01, Vol.32 (1), p.59-69

2011

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Specific combination of compound heterozygous mutations in 17[beta]-hydroxysteroid dehydrogenase type 4 defines a new subtype of D-bifunctional protein deficiency

Orphanet journal of rare diseases, 2012-11, Vol.7

2012

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

American journal of physiology: endocrinology and metabolism, 2009, Vol.59 (1)

2009

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A Lethal Defect of Mitochondrial and Peroxisomal FissionBrief Report

The New England journal of medicine, 2007-04, Vol.356 (17), p.1736

2007

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Corrigendum to “Elongation of very long-chain fatty acids is enhanced in X-linked adrenoleukodystrophy” [Mol. Genet. Metab. 84 (2005) 144–151]

Molecular genetics and metabolism, 2008-03, Vol.93 (3), p.350-350

2008

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Method for Measurement of Peroxisomal Very-Long-Chain Fatty Acid Î²-Oxidation in Human Skin Fibroblasts Using Stable-Isotope-Labeled Tetracosanoic Acid

Clinical chemistry (Baltimore, Md.), 2004-10, Vol.50 (10), p.1824

2004

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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

American journal of human genetics, 2003-04, Vol.72 (4), p.1013-1017

2003

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Autosomal Recessive HEM/Greenberg Skeletal Dysplasia Is Caused by 3β-Hydroxysterol Δ14-Reductase Deficiency Due to Mutations in the Lamin B Receptor Gene

American journal of human genetics, 2003-04, Vol.72 (4), p.1013-1017

2003

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The IMP dehydrogenase inhibitor mycophenolic acid antagonizes the CTP synthetase inhibitor 3-deazauridine in MOLT-3 human leukemia cells: A central role for phosphoribosyl pyrophosphate

Biochemical pharmacology, 1995-09, Vol.50 (7), p.1095-1098

1995

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A Lethal Defect of Mitochondrial and Peroxisomal Fission

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

Clinical and biochemical spectrum of D-bifunctional protein deficiency

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

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

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

Biochemical Studies in Fibroblasts to Interpret Variants of Unknown Significance in the ABCD1 Gene

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

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

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

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

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

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

Specific combination of compound heterozygous mutations in 17[beta]-hydroxysteroid dehydrogenase type 4 defines a new subtype of D-bifunctional protein deficiency

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

A Lethal Defect of Mitochondrial and Peroxisomal FissionBrief Report

Corrigendum to “Elongation of very long-chain fatty acids is enhanced in X-linked adrenoleukodystrophy” [Mol. Genet. Metab. 84 (2005) 144–151]

Method for Measurement of Peroxisomal Very-Long-Chain Fatty Acid Î²-Oxidation in Human Skin Fibroblasts Using Stable-Isotope-Labeled Tetracosanoic Acid

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

Autosomal Recessive HEM/Greenberg Skeletal Dysplasia Is Caused by 3β-Hydroxysterol Δ14-Reductase Deficiency Due to Mutations in the Lamin B Receptor Gene

The IMP dehydrogenase inhibitor mycophenolic acid antagonizes the CTP synthetase inhibitor 3-deazauridine in MOLT-3 human leukemia cells: A central role for phosphoribosyl pyrophosphate

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