UB Paderborn / Katalog / Suche / in CDI

Sortiert nach

Einfacher Volltextzugriff von (fast) überall

Installieren Sie die LibKey Nomad-Browsererweiterung und erhalten Sie von vielen Webseiten einfachen Zugriff auf lizenzierte Volltexte oder Open Access Publikationen. Mehr erfahren...

A Lethal Defect of Mitochondrial and Peroxisomal Fission

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

2007

Volltextzugriff (PDF)

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

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

2009

Volltextzugriff (PDF)

Clinical and biochemical spectrum of D-bifunctional protein deficiency

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

2006

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

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

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

2021

Volltextzugriff (PDF)

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

Journal of medical genetics, 2017-05, Vol.54 (5), p.330-337

2017

Volltextzugriff (PDF)

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

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

2009

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

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

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

2009

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

A Lethal Defect of Mitochondrial and Peroxisomal FissionBrief Report

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

2007

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

1 – 20 von 20

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(20)
Mit Volltextzugriff
(19)

Publikationsform

Artikel
(20)

Sprache

Englisch
(20)

Erscheinungsjahr

n.n

Thema

Life Sciences & Biomedicine
(14)
Science & Technology
(14)
Humans
(10)
Mutation
(10)
Biological And Medical Sciences
(8)
Genetics & Heredity
(8)
Medical Sciences
(8)
Fibroblasts - Metabolism
(7)
Peroxisomes - Metabolism
(7)
Fatty Acids - Metabolism
(6)
Fatty Acids
(5)
Adrenoleukodystrophy - Metabolism
(4)
Animals
(4)
Fundamental And Applied Biological Sciences. Psychology
(4)
Male
(4)
Mice
(4)
Mice, Knockout
(4)
Neurology
(4)
Peroxisome
(4)
Receptors, Cytoplasmic And Nuclear - Genetics
(4)

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

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

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

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

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

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

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

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

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

A Lethal Defect of Mitochondrial and Peroxisomal FissionBrief Report

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

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

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

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

Suchergebnisse filtern