Neuroimaging of peroxisome biogenesis disorders (Zellweger spectrum) with prolonged survival.
about
Peroxisomal acyl-CoA-oxidase deficiency: two new casesPeroxisomes in brain development and functionPEX1 mutations in the Zellweger spectrum of the peroxisome biogenesis disordersZellweger spectrum disorders: clinical manifestations in patients surviving into adulthood.Neurometabolic diseases of childhood.In Vivo NMR Studies of the Brain with Hereditary or Acquired Metabolic Disorders.Cerebral MRI as a valuable diagnostic tool in Zellweger spectrum patients.Peroxisomes, myelination, and axonal integrity in the CNS.Peroxisome biogenesis disorders: Biological, clinical and pathophysiological perspectives.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.Clinical and biochemical spectrum of D-bifunctional protein deficiency.First Japanese case of Zellweger syndrome with a mutation in PEX14.Peroxisome biogenesis disorders.
P2860
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P2860
Neuroimaging of peroxisome biogenesis disorders (Zellweger spectrum) with prolonged survival.
description
2004 nî lūn-bûn
@nan
2004年の論文
@ja
2004年学术文章
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2004年学术文章
@zh
2004年学术文章
@zh-cn
2004年学术文章
@zh-hans
2004年学术文章
@zh-my
2004年学术文章
@zh-sg
2004年學術文章
@yue
2004年學術文章
@zh-hant
name
Neuroimaging of peroxisome bio ...... trum) with prolonged survival.
@en
Neuroimaging of peroxisome biogenesis disorders
@nl
type
label
Neuroimaging of peroxisome bio ...... trum) with prolonged survival.
@en
Neuroimaging of peroxisome biogenesis disorders
@nl
prefLabel
Neuroimaging of peroxisome bio ...... trum) with prolonged survival.
@en
Neuroimaging of peroxisome biogenesis disorders
@nl
P2093
P1433
P1476
Neuroimaging of peroxisome bio ...... trum) with prolonged survival.
@en
P2093
Poll-The BT
Smeitink J
Wanders RJ
Waterham HR
de Klerk JB
van der Knaap MS
P304
P356
10.1212/01.WNL.0000106943.40848.03
P407
P577
2004-02-01T00:00:00Z