Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene
about
Peroxisomes in brain development and functionThe genetic landscape of X-linked adrenoleukodystrophy: inheritance, mutations, modifier genes, and diagnosisZellweger spectrum disorders: clinical manifestations in patients surviving into adulthood.X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management.Peroxisomal biogenesis is genetically and biochemically linked to carbohydrate metabolism in Drosophila and mouse.Endocrine manifestations related to inherited metabolic diseases in adults.A homozygous mutation in PEX16 identified by whole-exome sequencing ending a diagnostic odyssey.Childhood cerebellar ataxia.Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelinesPeroxisome biogenesis disorders: Biological, clinical and pathophysiological perspectives.Peroxisomal Disorders: A Review on Cerebellar Pathologies.Clinical utility gene card for: Zellweger syndrome spectrum.Clinical and Laboratory Diagnosis of Peroxisomal Disorders.Novel PEX3 Gene Mutations Resulting in a Moderate Zellweger Spectrum Disorder.Identification of a novel mutation in PEX10 in a patient with attenuated Zellweger spectrum disorder: a case report.Diagnosis of a mild peroxisomal phenotype with next-generation sequencing.Peroxisome deficiency but not the defect in ether lipid synthesis causes activation of the innate immune system and axonal loss in the central nervous systemZellweger Spectrum Disorder with Mild Phenotype Caused by PEX2 Gene Mutations.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.
P2860
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P2860
Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene
description
2011 nî lūn-bûn
@nan
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
2011年论文
@zh
2011年论文
@zh-cn
name
Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene
@en
Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene
@nl
type
label
Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene
@en
Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene
@nl
prefLabel
Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene
@en
Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene
@nl
P2093
P2860
P356
P1476
Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene
@en
P2093
Caroline Sevin
Hans R Waterham
Patrick Aubourg
Ronald J Wanders
Sacha Ferdinandusse
P2860
P2888
P356
10.1186/1750-1172-6-8
P577
2011-03-10T00:00:00Z
P5875
P6179
1022797211