Identification of the molecular defect in patients with peroxisomal mosaicism using a novel method involving culturing of cells at 40 degrees C: implications for other inborn errors of metabolism

Identification of the molecular defect in patients with peroxisomal mosaicism using a novel method involving culturing of cells at 40 degrees C: implications for other inborn errors of metabolism

Item
http://www.wikidata.org/entity/Q28270885
Zellweger spectrum disorders: clinical overview and management approachIdentification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disordersRational diagnostic strategy for Zellweger syndrome spectrum patientsInduced pluripotent stem cell models of Zellweger spectrum disorder show impaired peroxisome assembly and cell type-specific lipid abnormalities.Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6Residual N-acetyl-α-glucosaminidase activity in fibroblasts correlates with disease severity in patients with mucopolysaccharidosis type IIIBThe important role of biochemical and functional studies in the diagnostics of peroxisomal disordersIdentification of a novel mutation in PEX10 in a patient with attenuated Zellweger spectrum disorder: a case report.Arginine improves peroxisome functioning in cells from patients with a mild peroxisome biogenesis disorder.High-Throughput Screen Fails to Identify Compounds That Enhance Residual Enzyme Activity of Mutant N-Acetyl-α-Glucosaminidase in Mucopolysaccharidosis Type IIIB.Uric acid accumulation in an Arabidopsis urate oxidase mutant impairs seedling establishment by blocking peroxisome maintenance.
P2860

Identification of the molecular defect in patients with peroxisomal mosaicism using a novel method involving culturing of cells at 40 degrees C: implications for other inborn errors of metabolism

Item
http://www.wikidata.org/entity/Q28270885
description
2004 nî lūn-bûn
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2004 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2004 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2004年の論文
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2004年論文
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2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
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2004年論文
@zh-tw
2004年论文
@wuu
name
Identification of the molecula ...... er inborn errors of metabolism
@ast
Identification of the molecula ...... er inborn errors of metabolism
@en
Identification of the molecula ...... er inborn errors of metabolism
@nl
type
label
Identification of the molecula ...... er inborn errors of metabolism
@ast
Identification of the molecula ...... er inborn errors of metabolism
@en
Identification of the molecula ...... er inborn errors of metabolism
@nl
prefLabel
Identification of the molecula ...... er inborn errors of metabolism
@ast
Identification of the molecula ...... er inborn errors of metabolism
@en
Identification of the molecula ...... er inborn errors of metabolism
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P698
P356
P1433
P1476
Identification of the molecula ...... er inborn errors of metabolism
@en
P2093
P2860
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P698