Refsum Disease Pages on BioPortfolio:

BioPortfolio - Refsum Disease
Refsum Disease - BioPortfolio - Indepth. ... Ataxia with loss of Purkinje cells in a mouse model for Refsum disease. Refsum disease is caused by a ...
http://www.bioportfolio.com/indepth/Refsum_Disease.html...

BioPortfolio - drug treatment of zellweger disease
drug treatment of zellweger disease Pages on BioPortfolio: ... Refsum Disease/ pathology; Treatment Outcome; Zellweger Syndrome/drug therapy . ...
http://www.bioportfolio.com/search/drug_treatment_of_zellweg...

BioPortfolio - Refsum Disease
View the current Refsum Disease InDepth page on BioPortfolio.com ... Refsum disease due to the splice-site mutation c.135-2A>G before exon 3 of the PHYH .
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http://www.bioportfolio.com/search/Refsum_Disease.html...

BioPortfolio - Refsum Disease - InDepth
View the current Refsum Disease InDepth page on BioPortfolio.com ... Ataxia with loss of Purkinje cells in a mouse model for Refsum disease. ...
http://www.bioportfolio.com/indepth/Refsum_Disease.pdf...

BioPortfolio - discovery of Refsum Disease
Recent Search Terms used to find this page: refsum disease image | discovery of Refsum Disease | . Browse BioPortfolio's InDepth service - alphabetically: A ...
http://www.bioportfolio.com/search/discovery_of_Refsum_Disea...

BioPortfolio - zellweger disease recent data
Infantile Refsum's Disease; Zellweger Syndrome; Hyperpipecolic Acidemia; ... 7424480- System and method for storing and accessing data in an interlocking .
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http://www.bioportfolio.com/search/zellweger_disease_recent_...

BioPortfolio - Refsum Disease research
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. ...
http://www.bioportfolio.com/indepth/Refsum_Disease/research....

BioPortfolio - Refsum Disease patents
«Refsum Disease. Below is an extended Refsum Disease patents listing. Click here to return to the Refsum Disease main in depth entry. ...
http://www.bioportfolio.com/indepth/Refsum_Disease/patents.h...

BioPortfolio - Refsum
Ataxia with loss of Purkinje cells in a mouse model for Refsum disease. ... BioPortfolio Ltd. offers e-mail and postal lists for Refsum Disease scientists
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http://www.bioportfolio.com/search/Refsum.html...

BioPortfolio - Refsum - InDepth
Ataxia with loss of Purkinje cells in a mouse model for Refsum disease. Refsum disease is caused by a deficiency of phytanoyl-CoA hydroxylase...14th ...
http://www.bioportfolio.com/indepth/Refsum.pdf...

Results from other life science and pharmaceutical sites:

Refsum Disease Information Page: National Institute of ...
14 Feb 2007 ... Refsum disease information sheet compiled by the National Institute of Neurological Disorders and Stroke (NINDS).
http://www.ninds.nih.gov/disorders/refsum/refsum.htm...

Refsum disease
REFSUM DISEASE is a rare disorder of lipid metabolism that is inherited as a ... Refsum disease is characterized by an accumulation of phytanic acid in the ...
http://www.ncbi.nlm.nih.gov/disease/Refsum.html...

Refsum disease
... OMIM: Online Mendelian Inheritance in Man Refsum Disease information ... National Organization for Rare Disorders Refsum Syndrome information ...
http://www.kumc.edu/gec/support/refsum.html...

OMIM - REFSUM DISEASE
MIM #266500 · Text · Description · Clinical Features · Mapping · Nomenclature · History · See Also · References · Contributors · Creation Date ...
http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=266500...

Peroxisomal Disorders: Inherited Disorders of Metabolism: Merck ...
X-linked adrenoleukodystrophy. Classic Refsum's disease ... Classic Refsum's disease: Genetic deficiency of a single peroxisomal enzyme, phytanoyl-CoA ...
http://www.merck.com/mmpe/sec19/ch296/ch296h.html...

Refsum Disease -- GeneReviews -- NCBI Bookshelf
Disease characteristics. Refsum disease is characterized by anosmia (a universal finding) and early-onset retinitis pigmentosa with variable combinations of ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part...

Midlife diagnosis of Refsum Disease in siblings with Retinitis ...
12 Mar 2008 ... Refsum disease is a potentially lethal and disabling condition associated with retinitis pigmentosa in which early treatment can prevent ...
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=22...

Refsum disease
Refsum disease is characterized by an accumulation of phytanic acid in ... In 1997 the gene for Refsum disease was identified and mapped to chromosome 10. ...
http://www.ncbi.nlm.nih.gov/books/bv.fcgi?rid=gnd.section.23...

Identification of PAHX, a Refsum disease gene - Nature Genetics
Refsum disease is an autosomal recessive disorder characterized by retinitis pigmentosa, peripheral poly neuropathy, cerebellar ataxia and increased ...
http://www.nature.com/ng/journal/v17/n2/abs/ng1097-185.html...

OMIM - REFSUM DISEASE, INFANTILE FORM
MIM #266510 · Text · See Also · References · Contributors · Creation Date · Edit History · Clinical Synopsis · Gene map · Entrez Gene · Nomenclature ...
http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=266510...

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