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

Papers overview

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Review
2017
Review
2017
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
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 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 (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
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
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
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
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 (LAD) is a recently recognized autosomal-recessive trait characterized by recurrent bacterial… (More)
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Highly Cited
1951
Highly Cited
1951
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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