Page last updated: 2024-10-17

cytosine and Fucosidosis

cytosine has been researched along with Fucosidosis in 1 studies

Fucosidosis: An autosomal recessive lysosomal storage disease caused by a deficiency of ALPHA-L-FUCOSIDASE activity resulting in an accumulation of fucose containing SPHINGOLIPIDS; GLYCOPROTEINS, and mucopolysaccharides (GLYCOSAMINOGLYCANS) in lysosomes. The infantile form (type I) features psychomotor deterioration, MUSCLE SPASTICITY, coarse facial features, growth retardation, skeletal abnormalities, visceromegaly, SEIZURES, recurrent infections, and MACROGLOSSIA, with death occurring in the first decade of life. Juvenile fucosidosis (type II) is the more common variant and features a slowly progressive decline in neurologic function and angiokeratoma corporis diffusum. Type II survival may be through the fourth decade of life. (From Menkes, Textbook of Child Neurology, 5th ed, p87; Am J Med Genet 1991 Jan;38(1):111-31)

Research

Studies (1)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's1 (100.00)18.2507
2000's0 (0.00)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Skelly, BJ1
Sargan, DR1
Winchester, BG1
Smith, MO1
Herrtage, ME1
Giger, U1

Other Studies

1 other study available for cytosine and Fucosidosis

ArticleYear
Genomic screening for fucosidosis in English Springer Spaniels.
    American journal of veterinary research, 1999, Volume: 60, Issue:6

    Topics: alpha-L-Fucosidase; Animals; Australia; Base Pairing; Colorado; Cytosine; Dog Diseases; Dogs; Female

1999