Refsum disease due to the splice-site mutation c.135-2A>G before exon 3 of the PHYH gene, diagnosed eight years after detection of retinitis pigmentosa-Reference-Cited by-同舟云学术

Refsum disease due to the splice-site mutation c.135-2A>G before exon 3 of the PHYH gene, diagnosed eight years after detection of retinitis pigmentosa

Published:2008-03 Issue:1-2 Volume:266 Page:182-186
ISSN:0022-510X
Container-title:Journal of the Neurological Sciences
language:en
Short-container-title:Journal of the Neurological Sciences

Author:

Finsterer Josef,Regelsberger Günther,Voigtländer Till

Publisher

Elsevier BV

Subject

Clinical Neurology,Neurology

Reference38 articles.

1. Molecular basis of Refsum disease: sequence variations in phytanoyl-CoA hydroxylase (PHYH) and the PTS2 receptor (PEX7);Jansen;Hum Mutat,2004

2. Refsum's disease: a peroxisomal disorder affecting phytanic acid alpha-oxidation;Wierzbicki;J Neurochem,2002

3. 3,7,11,15-Tetramethylhexadecanoic acid, a constituent of butterfat

4. Phytanic acid: production from phytol, its breakdown and role in human disease;van den Brink;Cell Mol Life Sci,2006

5. Phytanic acid and very long chain fatty acids in genetic peroxisomal disorders;Molzer;J Clin Chem Clin Biochem,1989

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4. Adult Refsum Disease: A Form of Tapetoretinal Dystrophy Accessible to Therapy;Survey of Ophthalmology;2010-11

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