منابع مشابه
Ocular findings in a patient with fucosidosis
Purpose To describe the ocular findings in a patient with fucosidosis, a rare inborn lysosomal storage disease. Observations A 14 year-old female presented with angiokeratomas corporis diffusum, coarse facial features, poor verbal skills, hearing impairment and mild developmental delay. A lysosomal storage enzyme screen confirmed absent activity of α-l-fucosidase consistent with a diagnosis o...
متن کاملA 5' splice site mutation in fucosidosis.
Fucosidosis is a rare, autosomal recessive, lysosomal storage disease, resulting from a deficiency of the enzyme alpha-fucosidase (EC 3.2.1.51). It is characterised clinically by progressive mental and motor deterioration, growth retardation, coarse facies, and often recurrent infections, but the course of the disease is variable. The gene encoding lysosomal alpha-fucosidase has been mapped to ...
متن کاملThe molecular defect underlying canine fucosidosis.
Fucosidosis is a lysosomal storage disease which affects humans and English springer spaniel dogs. The disease is recessively inherited in both species and results from a deficiency of the enzyme alpha-L-fucosidase. We have recently cloned and sequenced the canine fucosidase gene (EMBL sequence admission number X92448 (cDNA) and X92671-X92678 (individual exonic data)). The gene spans 12 kb and ...
متن کاملThe molecular defect underlying canine fucosidosis Barbara
Fucosidosis is a lysosomal storage disease which affects humans and English springer spaniel dogs. The disease is recessively inherited in both species and results from a deficiency of the enzyme a-Lfucosidase. We have recendy cloned and sequenced the canine fucosidase gene (EMBL sequence admission number X92448 (cDNA) and X92671-X92678 (individual exonic data)). The gene spans 12 kb and consis...
متن کاملOcular findings in a case of fucosidosis.
The ocular findings in a case of fucosidosis are described and the differential diagnosis is discussed. It is suggested that the level of alpha-L-fucosidase should be estimated in cases of bull's eye retinopathy.
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ژورنال
عنوان ژورنال: Journal of Pediatric Neurosciences
سال: 2014
ISSN: 1817-1745
DOI: 10.4103/1817-1745.139331