Refsum Disease

Known as: Refsum's disease, Classic Refsum Disease, Heredoataxia Polyneuritiformis, Hemeralopia 
An autosomal recessive familial disorder that usually presents in childhood with POLYNEUROPATHY; SENSORINEURAL HEARING LOSS; ICHTHYOSIS; ATAXIA… (More)
National Institutes of Health

Papers overview

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Review
2011
Review
2011
The idea that phytopathogenic fungi associated with tree-killing bark beetles are critical for overwhelming tree defenses and… (More)
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2008
2008
Refsum disease is caused by a deficiency of phytanoyl-CoA hydroxylase (PHYH), the first enzyme of the peroxisomal alpha-oxidation… (More)
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Review
2002
Review
2002
Despite its well known histological and clinical features, Hodgkin's lymphoma (HL) has recently been the object of intense… (More)
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Highly Cited
2000
Highly Cited
2000
Familial Danish dementia (FDD), also known as heredopathia ophthalmo-oto-encephalica, is an autosomal dominant disorder… (More)
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Highly Cited
1999
Highly Cited
1999
The assay of plasma very long chain fatty acids (VLCFAs), developed in our laboratory in 1981, has become the most widely used… (More)
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Highly Cited
1997
Highly Cited
1997
Refsum disease is an autosomal-recessively inherited disorder characterized clinically by a tetrad of abnormalities: retinitis… (More)
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Highly Cited
1997
Highly Cited
1997
Refsum disease is an autosomal recessive disorder characterized by retinitis pigmentosa, peripheral poly neuropathy, cerebellar… (More)
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1990
1990
A female patient started to develop deafness and vertigo at the age of 29. In the following years she became atactic and… (More)
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Review
1986
Review
1986
A new group of genetic diseases, in which peroxisomal functions are impaired, has recently been recognised. Although peroxisomes… (More)
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Highly Cited
1971
Highly Cited
1971
Heterologous antiserum was prepared in rabbits against highly purified human antihemophilic factor (AHF, factor VIII). This… (More)
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