Clinical and biochemical spectrum of D-bifunctional protein deficiency. - Wikidata - awgldk - TriplyDB

Clinical and biochemical spectrum of D-bifunctional protein deficiency.

Clinical and biochemical spectrum of D-bifunctional protein deficiency.

http://www.wikidata.org/entity/Q48701952

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Peroxisomes in brain development and function Zellweger spectrum disorders: clinical overview and management approach ABC Transporter Subfamily D: Distinct Differences in Behavior between ABCD1-3 and ABCD4 in Subcellular Localization, Function, and Human Disease Zellweger spectrum disorders: clinical manifestations in patients surviving into adulthood.Mutations in the gene encoding peroxisomal sterol carrier protein X (SCPx) cause leukencephalopathy with dystonia and motor neuropathy.Current concepts of polymicrogyria.Next generation sequencing with copy number variant detection expands the phenotypic spectrum of HSD17B4-deficiency.Genetic and dietary regulation of lipid droplet expansion in Caenorhabditis elegans.Effects of naturally occurring missense mutations and G525V in the hydratase domain of human d-bifunctional protein on hydratase activity Fatty acid omega-oxidation as a rescue pathway for fatty acid oxidation disorders in humans.Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome.Biochemistry and genetics of inherited disorders of peroxisomal fatty acid metabolism On the molecular basis of D-bifunctional protein deficiency type III.The beta-3 adrenergic agonist (CL-316,243) restores the expression of down-regulated fatty acid oxidation genes in type 2 diabetic mice Peroxisomal L-bifunctional enzyme (Ehhadh) is essential for the production of medium-chain dicarboxylic acids MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing.The important role of biochemical and functional studies in the diagnostics of peroxisomal disorders Mechanisms of disease: Inborn errors of bile acid synthesis.Heterozygous mutations in HSD17B4 cause juvenile peroxisomal D-bifunctional protein deficiency.Bile acids: the role of peroxisomes.Peroxisomes, myelination, and axonal integrity in the CNS.Peroxisomal D-bifunctional protein deficiency: three adults diagnosed by whole-exome sequencing.Myelin lesions associated with lysosomal and peroxisomal disorders.Peroxisomal Disorders: A Review on Cerebellar Pathologies.Functional characterisation of peroxisomal β-oxidation disorders in fibroblasts using lipidomics.Clinical utility gene card for: Zellweger syndrome spectrum.Clinical and Laboratory Diagnosis of Peroxisomal Disorders.Transcriptional regulation of human and murine short-chain dehydrogenase/reductases (SDRs) - an in silico approach.A homozygous missense variant in HSD17B4 identified in a consanguineous Chinese Han family with type II Perrault syndrome.Lymphoblastoid cell lines for diagnosis of peroxisome biogenesis disorders.Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency.Plasma lipidomics as a diagnostic tool for peroxisomal disorders.Identification of a chronic non-neurodegenerative microglia activation state in a mouse model of peroxisomal β-oxidation deficiency.Expanding the genotypic spectrum of Perrault syndrome.Deficiency of a Retinal Dystrophy Protein, Acyl-CoA Binding Domain-containing 5 (ACBD5), Impairs Peroxisomal β-Oxidation of Very-long-chain Fatty Acids.Quaternary structure of human, Drosophila melanogaster and Caenorhabditis elegans MFE-2 in solution from synchrotron small-angle X-ray scattering.Effect of Lorenzo's Oil on Hepatic Gene Expression and the Serum Fatty Acid Level in abcd1-Deficient Mice.Neuronal Dysfunction and Behavioral Abnormalities Are Evoked by Neural Cells and Aggravated by Inflammatory Microglia in Peroxisomal β-Oxidation Deficiency.

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P2860

Clinical and biochemical spectrum of D-bifunctional protein deficiency.

http://www.wikidata.org/entity/Q48701952

description

2006 nî lūn-bûn

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2006年の論文

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2006年学术文章

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2006年学术文章

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2006年學術文章

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2006年學術文章

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name

Clinical and biochemical spectrum of D-bifunctional protein deficiency.

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Clinical and biochemical spectrum of D-bifunctional protein deficiency.

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type

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Clinical and biochemical spectrum of D-bifunctional protein deficiency.

@en

Clinical and biochemical spectrum of D-bifunctional protein deficiency.

@nl

prefLabel

Clinical and biochemical spectrum of D-bifunctional protein deficiency.

@en

Clinical and biochemical spectrum of D-bifunctional protein deficiency.

@nl

P1433

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P1433

Annals of Neurology

P1476

Clinical and biochemical spectrum of D-bifunctional protein deficiency.

@en

P2093

Alfons Macaya

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Bwee Tien Poll-The

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Charles B L M Majoie

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Conny Dekker

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Jutta Gärtner

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Marinus Duran

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Peter G Barth

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Petra A W Mooyer

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Roelineke J Soorani-Lunsing

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Sacha Ferdinandusse

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P2860

Physiological role of D-3-hydroxyacyl-CoA dehydratase/D-3-hydroxyacyl-CoA dehydrogenase bifunctional protein

The human peroxisomal multifunctional protein involved in bile acid synthesis: activity measurement, deficiency in Zellweger syndrome and chromosome mapping

Purification and properties of oestradiol 17 beta-dehydrogenase extracted from cytoplasmic vesicles of porcine endometrial cells.

Evidence that multifunctional protein 2, and not multifunctional protein 1, is involved in the peroxisomal beta-oxidation of pristanic acid.

Neuroimaging of peroxisome biogenesis disorders (Zellweger spectrum) with prolonged survival.

Biochemical markers predicting survival in peroxisome biogenesis disorders.

The neuronal migration defect in mice with Zellweger syndrome (Pex5 knockout) is not caused by the inactivity of peroxisomal beta-oxidation.

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92-104

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scholarly article

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10.1002/ANA.20702

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1

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59

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Eugen Boltshauser

Ronald J A Wanders

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2006-01-01T00:00:00Z

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P698

16278854

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