Identification of PEX7 as the second gene involved in Refsum disease
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Midlife diagnosis of Refsum disease in siblings with retinitis pigmentosa -- the footprint is the clue: a case reportPathogenesis of permeability barrier abnormalities in the ichthyoses: inherited disorders of lipid metabolismThe WD-repeat protein superfamily in Arabidopsis: conservation and divergence in structure and functionPeroxisomes in brain development and functionPex7p translocates in and out of peroxisomes in Saccharomyces cerevisiaeStructure of human phytanoyl-CoA 2-hydroxylase identifies molecular mechanisms of Refsum diseaseAutosomal recessive cerebellar ataxias.The Challenges of a Successful Pregnancy in a Patient with Adult Refsum's Disease due to Phytanoyl-CoA Hydroxylase Deficiency.Peripheral nervous system plasmalogens regulate Schwann cell differentiation and myelination.The Arabidopsis peroxisomal targeting signal type 2 receptor PEX7 is necessary for peroxisome function and dependent on PEX5.Biochemistry and genetics of inherited disorders of peroxisomal fatty acid metabolismRefsum's Disease-Use of the Intestinal Lipase Inhibitor, Orlistat, as a Novel Therapeutic Approach to a Complex Disorder.Refsum Disease Presenting with a Late-Onset LeukodystrophyThe important role of biochemical and functional studies in the diagnostics of peroxisomal disordersCCT2 Mutations Evoke Leber Congenital Amaurosis due to Chaperone Complex Instability.Isolated and syndromic forms of congenital anosmia.Peroxisome biogenesis disorders: Biological, clinical and pathophysiological perspectives.Refsum's disease and cochlear implantation.Systemic diseases associated with retinal dystrophies.Peroxisomal Disorders: A Review on Cerebellar Pathologies.Clinical and Laboratory Diagnosis of Peroxisomal Disorders.Functional characterization of novel mutations in GNPAT and AGPS, causing rhizomelic chondrodysplasia punctata (RCDP) types 2 and 3.Phytyl fatty acid esters in vegetables pose a risk for patients suffering from Refsum's disease.From peroxisomal disorders to common neurodegenerative diseases - the role of ether phospholipids in the nervous system.Novel ABHD12 mutations in PHARC patients: the differential diagnosis of deaf-blindness.Pexophagy: Molecular Mechanisms and Implications for Health and Diseases.Syndromic Hearing Loss: A Brief Review of Common Presentations and Genetics.Cochlear Implantation in Siblings With Refsum's Disease.Association between peroxisomal biogenesis factor 7 and autism spectrum disorders in a Korean population.Long-term strategies for the treatment of Refsum's disease using therapeutic apheresis.Peroxisome biogenesis disorders.
P2860
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P2860
Identification of PEX7 as the second gene involved in Refsum disease
description
2003 nî lūn-bûn
@nan
2003 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
name
Identification of PEX7 as the second gene involved in Refsum disease
@ast
Identification of PEX7 as the second gene involved in Refsum disease
@en
Identification of PEX7 as the second gene involved in Refsum disease
@en-gb
Identification of PEX7 as the second gene involved in Refsum disease
@nl
type
label
Identification of PEX7 as the second gene involved in Refsum disease
@ast
Identification of PEX7 as the second gene involved in Refsum disease
@en
Identification of PEX7 as the second gene involved in Refsum disease
@en-gb
Identification of PEX7 as the second gene involved in Refsum disease
@nl
prefLabel
Identification of PEX7 as the second gene involved in Refsum disease
@ast
Identification of PEX7 as the second gene involved in Refsum disease
@en
Identification of PEX7 as the second gene involved in Refsum disease
@en-gb
Identification of PEX7 as the second gene involved in Refsum disease
@nl
P2093
P2860
P50
P3181
P356
P1476
Identification of PEX7 as the second gene involved in Refsum disease
@en
P2093
Daan M van den Brink
Gerbert A Jansen
Hans R Waterham
Janet Haasjes
John Mitchell
Michelle Lambert-Hamill
P2860
P3181
P356
10.1086/346093
P407
P577
2003-02-01T00:00:00Z