Zellweger spectrum disorders: clinical manifestations in patients surviving into adulthood. - Wikidata - wikimedia - TriplyDB

Zellweger spectrum disorders: clinical manifestations in patients surviving into adulthood.

Zellweger spectrum disorders: clinical manifestations in patients surviving into adulthood.

http://www.wikidata.org/entity/Q30393521

about

Peroxisomes in brain development and function Zellweger spectrum disorders: clinical overview and management approach Synthesis and evaluation of vitamin D receptor-mediated activities of cholesterol and vitamin D metabolites The important role of biochemical and functional studies in the diagnostics of peroxisomal disorders Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome.Coagulopathy in Zellweger spectrum disorders: a role for vitamin K.Development and validation of a severity scoring system for Zellweger spectrum disorders.Evaluation of C26:0-lysophosphatidylcholine and C26:0-carnitine as diagnostic markers for Zellweger spectrum disorders.Mild Zellweger syndrome due to a novel PEX6 mutation: correlation between clinical phenotype and in silico prediction of variant pathogenicity.Peroxisome biogenesis disorders.Long-Term Cholic Acid Therapy in Zellweger Spectrum Disorders

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Zellweger spectrum disorders: clinical manifestations in patients surviving into adulthood.

http://www.wikidata.org/entity/Q30393521

description

2015 nî lūn-bûn

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2015 թուականի Օգոստոսին հրատարակուած գիտական յօդուած

@hyw

2015 թվականի օգոստոսին հրատարակված գիտական հոդված

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2015年の論文

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2015年論文

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2015年論文

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2015年論文

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2015年論文

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Journal of Inherited Metabolic Disease

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Zellweger spectrum disorders: ...... ents surviving into adulthood.

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Bwee Tien Poll-The

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Charles B L M Majoie

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Frédéric M Vaz

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Hans R Waterham

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Johannes H T M Koelman

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Kevin Berendse

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Marc Engelen

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Peter G Barth

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Sacha Ferdinandusse

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P2860

A PEX6-defective peroxisomal biogenesis disorder with severe phenotype in an infant, versus mild phenotype resembling Usher syndrome in the affected parents

Diagnosis of cirrhosis by transient elastography (FibroScan): a prospective study

The Pex1-G844D mouse: a model for mild human Zellweger spectrum disorder.

Peroxisome biogenesis disorders

Nerve conduction studies in adrenomyeloneuropathy.

Genotype-phenotype correlations in disorders of peroxisome biogenesis.

Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome.

High prevalence of primary adrenal insufficiency in Zellweger spectrum disorders.

Clinical diagnosis, biochemical findings and MRI spectrum of peroxisomal disorders.

A FAMILIAL SYNDROME OF MULTIPLE CONGENITAL DEFECTS.

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Ronald J A Wanders

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