fucosidosis/seizures

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MR brain imaging of fucosidosis type I.

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CONCLUSIONS Fucosidosis is a rare autosomal recessive lysosomal storage disease with the main clinical findings of progressive neuromotor deterioration, seizures, coarse facial features, dysostosis multiplex, angiokeratoma corporis diffusum, visceromegaly, recurrent respiratory infections, and

Evolution of the neuroimaging changes in fucosidosis type II.

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We report on clinical and neuroradiological findings in two patients with fucosidosis type II; a 7-year-old Jordanian boy and a 3 1/2-year-old Anglo-Canadian girl. This rare, autosomal recessive disorder is caused by deficiency of lysosomal alpha-fucosidase and is manifested clinically by

Novel mutations in the FUCA1 gene that cause fucosidosis.

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Fucosidosis is a rare lysosomal storage disorder inherited in an autosomal recessive manner. Its estimated frequency is below 1 in 200,000 live births. Its clinical phenotypes include progressive neurological and mental deterioration, coarse facial features, growth retardation, visceromegaly,

Phenotypic spectrum of fucosidosis in Tunisia.

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Fucosidosis (OMIM 230000) is a rare autosomal recessive lysosomal disorder due to deficient α-L-fucosidase activity(EC 3.2.1.51), leading to the accumulation of fucose-containing glycolipids and glycoproteins in various tissues. This study contained the largest ever Tunisian survey of fucosidosis

Fucosidosis revisited: a review of 77 patients.

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Fucosidosis is a rare, autosomal recessive, lysosomal storage disorder caused by a severe deficiency of alpha-L-fucosidase in all tissues. We have conducted a review of fucosidosis, compiling data from published reports and an international questionnaire survey. Seventy-seven patients affected with

Lysosomal Storage Disorders in Indian Children with Neuroregression Attending a Genetic Center.

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OBJECTIVE To study the etiology of neuroregression in children having deficiency of the lysosomal enzymes. METHODS Review of medical records. METHODS Specialized Genetic Center. METHODS 432 children aged 3 mo-18 y having regression in a learned skill, selected from 1453 patients referred for

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