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Fucosidase Deficiency Disease

Known as: Fucosidosis, Deficiency Diseases, Fucosidase, alpha Fucosidase Deficiency Disease 
An autosomal recessive lysosomal storage disease caused by a deficiency of ALPHA-L-FUCOSIDASE activity resulting in an accumulation of fucose… 
National Institutes of Health

Related topics

Related topics

32 relations
AngiokeratomaAnhidrosisAutosomal recessive inheritanceCerebral atrophy

Broader (2)

Enzyme DeficiencyLysosomal Storage Diseases

Narrower (2)

Fucosidosis Type IFucosidosis Type II

Papers overview

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Highly Cited
1989
Highly Cited
1989
Relationship of oxidative damage to the hepatocarcinogenicity of the peroxisome proliferators di(2-ethylhexyl)phthalate and Wy-14,643.
Quantitative comparisons of the time course of biochemical and morphological changes induced by peroxisome proliferators… 
Review
1988
Review
1988
The CD11/CD18 leukocyte glycoprotein deficiency.
Highly Cited
1984
Highly Cited
1984
Effect of growth hormone (GH)-releasing hormone (GRH) on plasma GH in relation to magnitude and duration of GH deficiency in 26 children and adults with isolated GH deficiency or multiple pituitary…
Synthetic, amidated, 44 amino acid GH-releasing hormone ( GRH -44) was administered iv at a dose of 5 micrograms/kg to 20… 
Highly Cited
1982
Highly Cited
1982
Effects of antioxidant nutrient deficiency on the retina and retinal pigment epithelium of albino rats: a light and electron microscopic study.
Highly Cited
1979
Highly Cited
1979
EXPERIENCE WITH HUMAN GROWTH HORMONE IN GREAT BRITAIN: THE REPORT OF THE MRC WORKING PARTY
The Working Party on human growth hormone (hGH) has during the past decade developed a system for the evaluation and treatment of… 
Highly Cited
1974
Highly Cited
1974
Steatorrhea and azotorrhea and their relation to growth and nutrition in adolescents and young adults with cystic fibrosis.
Highly Cited
1969
Highly Cited
1969
Immunoglobulin E deficiency in ataxia-telangiectasia.
Abstract An IgE deficiency was demonstrated in 11 of 16 patients with ataxia-telangiectasia. No relation to age or to the level… 
Highly Cited
1968
Highly Cited
1968
Fatty acid and lipid composition of the brain of a myelin deficient mutant, the "quaking" mouse.
The “Quaking” mouse is a recessive autosomal mutant characterized by a deficient myelination of the central nervous system… 
Highly Cited
1953
Highly Cited
1953
Symptoms of Molybdenum Deficiency in Tobacco.
No report on the symptoms of molybdenum deficiency in tobacco has appeared in the literature. It seemed desirable, therefore, to… 
Highly Cited
1942
Highly Cited
1942
The mask of sanity.
Psychotic disorders may be concealed behind outer manifestations that give little or no suggestion of anything so serious. The… 
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