Adult Refsum disease: a form of tapetoretinal dystrophy accessible to therapy.
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Peroxisomes in brain development and functionPEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and MicrocephalyIn Vivo NMR Studies of the Brain with Hereditary or Acquired Metabolic Disorders.Finding homes for orphan cytochrome P450s: CYP4V2 and CYP4F22 in disease states.Refsum Disease Presenting with a Late-Onset LeukodystrophyNext-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.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.Long-term strategies for the treatment of Refsum's disease using therapeutic apheresis.
P2860
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P2860
Adult Refsum disease: a form of tapetoretinal dystrophy accessible to therapy.
description
article científic
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article scientifique
@fr
articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 20 September 2010
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Adult Refsum disease: a form of tapetoretinal dystrophy accessible to therapy.
@en
Adult Refsum disease: a form of tapetoretinal dystrophy accessible to therapy.
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type
label
Adult Refsum disease: a form of tapetoretinal dystrophy accessible to therapy.
@en
Adult Refsum disease: a form of tapetoretinal dystrophy accessible to therapy.
@nl
prefLabel
Adult Refsum disease: a form of tapetoretinal dystrophy accessible to therapy.
@en
Adult Refsum disease: a form of tapetoretinal dystrophy accessible to therapy.
@nl
P2093
P1476
Adult Refsum disease: a form of tapetoretinal dystrophy accessible to therapy.
@en
P2093
Bart P Leroy
Eleanor Baldwin
Klaus Rüether
Michael D Feher
Morten Horn
Ronald J Wanders
Susan Kuranoff
P304
P356
10.1016/J.SURVOPHTHAL.2010.03.007
P577
2010-09-20T00:00:00Z