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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

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2005
Highly Cited
2005
Prevalence of calcidiol deficiency in CKD: a cross-sectional study across latitudes in the United States.
BACKGROUND Recent Kidney Disease Outcomes Quality Initiative guidelines have raised concerns of 25-hydroxyvitamin D, or calcidiol… 
Review
2004
Review
2004
Vitamin D status, 1,25-dihydroxyvitamin D3, and the immune system.
Vitamin D is an important immune system regulator. The active form of vitamin D, 1,25-dihydroxyvitamin D3 [1,25(OH)2D3], has been… 
Highly Cited
2001
Highly Cited
2001
Prevalence of neuroendocrine dysfunction in patients recovering from traumatic brain injury.
Although hypopituitarism is a known complication of head injury, it may be underrecognized due to its subtle clinical… 
Highly Cited
1997
Highly Cited
1997
The occurrence and correction of boron deficiency
Positive responses to B application, which provide clear evidence of B deficiency, have been reported in over 80 countries and on… 
Highly Cited
1996
Highly Cited
1996
Combined analysis of inherited polymorphisms in arylamine N-acetyltransferase 2, glutathione S-transferases M1 and T1, microsomal epoxide hydrolase, and cytochrome P450 enzymes as modulators of…
Foreign compound-metabolizing enzymes may modify the risk of chemically induced cancer. We wanted to examine enzymes with… 
Review
1995
Review
1995
Cytologlogic Evidence of Corneal Diseases with Limbal Stem Cell Deficiency
Highly Cited
1982
Highly Cited
1982
A case of human linolenic acid deficiency involving neurological abnormalities.
A 6-yr-old girl who lost 300 cm of intestine was maintained by total parenteral nutrition. After 5 months on a preparation rich… 
Highly Cited
1975
Highly Cited
1975
Retinal degeneration associated with taurine deficiency in the cat.
A degeneration of the retinal photoreceptor cells develops in cats when casein is the source of dietary protein. Amino acid… 
Highly Cited
1966
Highly Cited
1966
17-hydroxylation deficiency in man.
The biosynthesis of steroid hormones 1 requires a number of hydroxylating enzymes. Deficiency of these enzymes is demonstrated by… 
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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