Biochemical markers predicting survival in peroxisome biogenesis disorders.
about
Human and great ape red blood cells differ in plasmalogen levels and compositionIdentification of differences in human and great ape phytanic acid metabolism that could influence gene expression profiles and physiological functionsA novel PEX12 mutation identified as the cause of a peroxisomal biogenesis disorder with mild clinical phenotype, mild biochemical abnormalities in fibroblasts and a mosaic catalase immunofluorescence pattern, even at 40 degrees CNovel mutations in the PEX12 gene of patients with a peroxisome biogenesis disorderIdentification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disordersZellweger spectrum disorders: clinical manifestations in patients surviving into adulthood.Nonsense suppressor therapies rescue peroxisome lipid metabolism and assembly in cells from patients with specific PEX gene mutationsThe important role of biochemical and functional studies in the diagnostics of peroxisomal disordersNovel mutations in the PEX2 gene of four unrelated patients with a peroxisome biogenesis disorder.Genotype-phenotype correlation in PEX5-deficient peroxisome biogenesis defective cell lines.Zellweger Spectrum Disorder with Mild Phenotype Caused by PEX2 Gene Mutations.Clinical and biochemical spectrum of D-bifunctional protein deficiency.A mutation in PEX19 causes a severe clinical phenotype in a patient with peroxisomal biogenesis disorder.
P2860
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P2860
Biochemical markers predicting survival in peroxisome biogenesis disorders.
description
2002 nî lūn-bûn
@nan
2002年の論文
@ja
2002年学术文章
@wuu
2002年学术文章
@zh
2002年学术文章
@zh-cn
2002年学术文章
@zh-hans
2002年学术文章
@zh-my
2002年学术文章
@zh-sg
2002年學術文章
@yue
2002年學術文章
@zh-hant
name
Biochemical markers predicting survival in peroxisome biogenesis disorders.
@en
type
label
Biochemical markers predicting survival in peroxisome biogenesis disorders.
@en
prefLabel
Biochemical markers predicting survival in peroxisome biogenesis disorders.
@en
P2093
P1433
P1476
Biochemical markers predicting survival in peroxisome biogenesis disorders.
@en
P2093
Mooijer PA
Poll-The BT
Wanders RJ
Waterham HR
P304
P356
10.1212/01.WNL.0000036609.14203.70
P407
P577
2002-12-01T00:00:00Z