Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder.
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Zellweger spectrum disorders: clinical overview and management approachThe different facets of organelle interplay-an overview of organelle interactionsThe Pex1-G844D mouse: a model for mild human Zellweger spectrum disorder.Zellweger spectrum disorders: clinical manifestations in patients surviving into adulthood.Characterization of two common 5' polymorphisms in PEX1 and correlation to survival in PEX1 peroxisome biogenesis disorder patients.A founder mutation in the PEX6 gene is responsible for increased incidence of Zellweger syndrome in a French Canadian populationPeroxisome assembly: matrix and membrane protein biogenesis.Mammalian peroxisomal ABC transporters: from endogenous substrates to pathology and clinical significance.Endocrine manifestations related to inherited metabolic diseases in adults.Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6Infantile Refsum Disease: Influence of Dietary Treatment on Plasma Phytanic Acid Levels.The important role of biochemical and functional studies in the diagnostics of peroxisomal disordersPeroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelinesThe exportomer: the peroxisomal receptor export machinery.Peroxisome biogenesis disorders: Biological, clinical and pathophysiological perspectives.Peroxisomal abnormalities in the immortalized human hepatocyte (IHH) cell line.Genetic Interactions between PEROXIN12 and Other Peroxisome-Associated Ubiquitination Components.Clinical utility gene card for: Zellweger syndrome spectrum.Lipidomic analysis of fibroblasts from Zellweger spectrum disorder patients identifies disease-specific phospholipid ratios.A novel mutation in the PEX12 gene causing a peroxisomal biogenesis disorder.hfAIM: A reliable bioinformatics approach for in silico genome-wide identification of autophagy-associated Atg8-interacting motifs in various organisms.Novel PEX3 Gene Mutations Resulting in a Moderate Zellweger Spectrum Disorder.Spectrum of PEX1 and PEX6 variants in Heimler syndrome.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.Deficiency of the exportomer components Pex1, Pex6, and Pex15 causes enhanced pexophagy in Saccharomyces cerevisiae.Arginine improves peroxisome functioning in cells from patients with a mild peroxisome biogenesis disorder.Zellweger Spectrum Disorder with Mild Phenotype Caused by PEX2 Gene Mutations.Rapid prenatal diagnosis of fetal Zellweger syndrome by biochemical tests, complementation studies, and molecular analyses.Redox Regulation of Homeostasis and Proteostasis in Peroxisomes.Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder.Expanding the spectrum of PEX10-related peroxisomal biogenesis disorders: slowly progressive recessive ataxia.Diagnostic and prognostic value of in vivo proton MR spectroscopy for Zellweger syndrome spectrum patients.Development and validation of a severity scoring system for Zellweger spectrum disorders.Mild Zellweger syndrome due to a novel PEX6 mutation: correlation between clinical phenotype and in silico prediction of variant pathogenicity.Transfection of Primary Human Skin Fibroblasts for Peroxisomal Studies.Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies.Peroxisome biogenesis disorders.Super-resolution imaging reveals the sub-diffraction phenotype of Zellweger Syndrome ghosts and wild-type peroxisomes.
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P2860
Genetic classification and mutational spectrum of more than 600 patients with a Zellweger syndrome spectrum disorder.
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
Genetic classification and mut ...... er syndrome spectrum disorder.
@en
Genetic classification and mut ...... er syndrome spectrum disorder.
@nl
type
label
Genetic classification and mut ...... er syndrome spectrum disorder.
@en
Genetic classification and mut ...... er syndrome spectrum disorder.
@nl
prefLabel
Genetic classification and mut ...... er syndrome spectrum disorder.
@en
Genetic classification and mut ...... er syndrome spectrum disorder.
@nl
P2093
P2860
P356
P1433
P1476
Genetic classification and mut ...... er syndrome spectrum disorder.
@en
P2093
Hans R Waterham
Janet Koster
Jeannette Gootjes
Merel S Ebberink
Petra A W Mooijer
P2860
P356
10.1002/HUMU.21388
P577
2011-01-01T00:00:00Z