The effectiveness of long-term dietary therapy in the treatment of adult Refsum disease
about
Peroxisomes in brain development and functionAtaxia.PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and MicrocephalyHypergonadotropic hypogonadism, progressive early-onset spinocerebellar ataxia, and late-onset sensorineural hearing loss: case report and literature review.The Challenges of a Successful Pregnancy in a Patient with Adult Refsum's Disease due to Phytanoyl-CoA Hydroxylase Deficiency.Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern IrelandChance and serendipity in science: two examples from my own career.Refsum's disease and cochlear implantation.Seeing through their eyes: lived experiences of people with retinitis pigmentosa.A practical approach to ichthyoses with systemic manifestations.EFNS/ENS Consensus on the diagnosis and management of chronic ataxias in adulthood.Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome.Indications for apheresis as an ultima ratio treatment of refractory hyperlipidemias.Probing of metabolites in finely powdered plant material by direct laser desorption ionization mass spectrometry.Treatable inherited rare movement disorders.A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform.Marked inhibition of Na+, K(+)- ATPase activity and the respiratory chain by phytanic acid in cerebellum from young rats: possible underlying mechanisms of cerebellar ataxia in Refsum disease.A child with night blindness: preventing serious symptoms of Refsum disease.Long-term strategies for the treatment of Refsum's disease using therapeutic apheresis.Peroxisome biogenesis disorders.
P2860
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P2860
The effectiveness of long-term dietary therapy in the treatment of adult Refsum disease
description
2010 nî lūn-bûn
@nan
2010 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2010年の論文
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2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
The effectiveness of long-term dietary therapy in the treatment of adult Refsum disease
@ast
The effectiveness of long-term dietary therapy in the treatment of adult Refsum disease
@en
The effectiveness of long-term dietary therapy in the treatment of adult Refsum disease
@nl
type
label
The effectiveness of long-term dietary therapy in the treatment of adult Refsum disease
@ast
The effectiveness of long-term dietary therapy in the treatment of adult Refsum disease
@en
The effectiveness of long-term dietary therapy in the treatment of adult Refsum disease
@nl
prefLabel
The effectiveness of long-term dietary therapy in the treatment of adult Refsum disease
@ast
The effectiveness of long-term dietary therapy in the treatment of adult Refsum disease
@en
The effectiveness of long-term dietary therapy in the treatment of adult Refsum disease
@nl
P2093
P356
P1476
The effectiveness of long-term dietary therapy in the treatment of adult Refsum disease
@en
P2093
Claire Harley
Eleanor J Baldwin
F Brian Gibberd
Margaret C Sidey
Michael D Feher
P356
10.1136/JNNP.2008.161059
P407
P577
2010-09-01T00:00:00Z