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… (More)
National Institutes of Health

Related topics

Related topics

31 relations
AngiokeratomaAnhidrosisAutosomal recessive inheritanceCerebral atrophy
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Broader (2)

Enzyme DeficiencyLysosomal Storage Diseases

Narrower (2)

Fucosidosis Type IFucosidosis Type II

Papers overview

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Review
2017
Review
2017
3D-printed upper limb prostheses: a review.
GOAL This paper aims to provide an overview with quantitative information of existing 3D-printed upper limb prostheses. We will… (More)
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Highly Cited
2013
Highly Cited
2013
Lentiviral hematopoietic stem cell gene therapy benefits metachromatic leukodystrophy.
Metachromatic leukodystrophy (MLD) is an inherited lysosomal storage disease caused by arylsulfatase A (ARSA) deficiency… (More)
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Highly Cited
2011
Highly Cited
2011
Chronic mucocutaneous candidiasis in humans with inborn errors of interleukin-17 immunity.
Chronic mucocutaneous candidiasis disease (CMCD) is characterized by recurrent or persistent infections of the skin, nails, and… (More)
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Review
2008
Review
2008
Glucose-6-phosphate dehydrogenase deficiency
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common human enzyme defect, being present in more than 400… (More)
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Highly Cited
2007
Highly Cited
2007
Enrichment of cereal grains with zinc: Agronomic or genetic biofortification?
Zinc deficiency is a well-documented problem in food crops, causing decreased crop yields and nutritional quality. Generally, the… (More)
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Highly Cited
2000
Highly Cited
2000
A prospective study of the prevalence of the polycystic ovary syndrome in unselected Caucasian women from Spain.
We prospectively estimated the prevalence of the polycystic ovary syndrome (PCOS), as defined by the NIH/NICHHD 1990 endocrine… (More)
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Highly Cited
2000
Highly Cited
2000
Accumulation of autophagic vacuoles and cardiomyopathy in LAMP-2-deficient mice
Lysosome-associated membrane protein-2 (LAMP-2) is a highly glycosylated protein and an important constituent of the lysosomal… (More)
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Highly Cited
1996
Highly Cited
1996
Interleukin 5 deficiency abolishes eosinophilia, airways hyperreactivity, and lung damage in a mouse asthma model
Airways inflammation is thought to play a central role in the pathogenesis of asthma. However, the precise role that individual… (More)
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Highly Cited
1987
Highly Cited
1987
Leukocyte adhesion deficiency: an inherited defect in the Mac-1, LFA-1, and p150,95 glycoproteins.
Leukocyte adhesion deficiency (LAD) is a recently recognized autosomal-recessive trait characterized by recurrent bacterial… (More)
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Highly Cited
1951
Highly Cited
1951
The mask of sanity.
ion well outside the self? 55. Specific loss of insight In a special sense the psychopath lacks insight to a degree seldom, if… (More)
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