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Fucosidase Deficiency Disease
Known as:
Fucosidosis
, Deficiency Diseases, Fucosidase
, alpha Fucosidase Deficiency Disease
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An autosomal recessive lysosomal storage disease caused by a deficiency of ALPHA-L-FUCOSIDASE activity resulting in an accumulation of fucose…
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National Institutes of Health
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Related topics
Related topics
32 relations
Angiokeratoma
Anhidrosis
Autosomal recessive inheritance
Cerebral atrophy
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Broader (2)
Enzyme Deficiency
Lysosomal Storage Diseases
Narrower (2)
Fucosidosis Type I
Fucosidosis Type II
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
Review
2018
Review
2018
Type 1 diabetes
L. Dimeglio
,
C. Evans-Molina
,
R. Oram
The Lancet
2018
Corpus ID: 2995468
Highly Cited
2013
Highly Cited
2013
Lentiviral Hematopoietic Stem Cell Gene Therapy Benefits Metachromatic Leukodystrophy
A. Biffi
,
E. Montini
,
+34 authors
L. Naldini
Science
2013
Corpus ID: 206546808
Introduction Metachromatic leukodystrophy (MLD) is a neurodegenerative lysosomal storage disease caused by arylsulfatase A (ARSA…
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Highly Cited
2007
Highly Cited
2007
Enrichment of cereal grains with zinc: Agronomic or genetic biofortification?
I. Cakmak
Plant and Soil
2007
Corpus ID: 34821888
Zinc deficiency is a well-documented problem in food crops, causing decreased crop yields and nutritional quality. Generally, the…
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Highly Cited
2005
Highly Cited
2005
Fibroblast growth factor-23 mitigates hyperphosphatemia but accentuates calcitriol deficiency in chronic kidney disease.
O. Gutiérrez
,
T. Isakova
,
+5 authors
M. Wolf
Journal of the American Society of Nephrology…
2005
Corpus ID: 18098824
Hyperphosphatemia, calcitriol deficiency, and secondary hyperparathyroidism (SHPT) are common complications of chronic kidney…
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Highly Cited
2001
Highly Cited
2001
A major role for VCAM-1, but not ICAM-1, in early atherosclerosis.
M. Cybulsky
,
K. Iiyama
,
+7 authors
D. Milstone
The Journal of clinical investigation
2001
Corpus ID: 36758520
VCAM-1 and ICAM-1 are endothelial adhesion molecules of the Ig gene superfamily that may participate in atherogenesis by…
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Review
2001
Review
2001
Selenium in global food systems
G. Combs
British Journal of Nutrition
2001
Corpus ID: 4886390
Food systems need to produce enough of the essential trace element Se to provide regular adult intakes of at least 40 μg/d to…
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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.
M. Asunción
,
R. Calvo
,
J. L. San Millán
,
J. Sancho
,
S. Ávila
,
H. Escobar-Morreale
The Journal of clinical endocrinology and…
2000
Corpus ID: 2373876
We prospectively estimated the prevalence of the polycystic ovary syndrome (PCOS), as defined by the NIH/NICHHD 1990 endocrine…
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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
P. Foster
,
S. Hogan
,
A. Ramsay
,
K. Matthaei
,
I. G. Young
The Journal of experimental medicine
1996
Corpus ID: 15802801
Airways inflammation is thought to play a central role in the pathogenesis of asthma. However, the precise role that individual…
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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.
D. Anderson
,
T. Springer
Annual review of medicine
1987
Corpus ID: 1169591
Leukocyte adhesion deficiency (LAD) is a recently recognized autosomal-recessive trait characterized by recurrent bacterial…
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Highly Cited
1951
Highly Cited
1951
The mask of sanity.
H. Cleckley
Postgraduate medicine
1951
Corpus ID: 31170939
Psychotic disorders may be concealed behind outer manifestations that give little or no suggestion of anything so serious. The…
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