beta-mannosidosis/hearing loss

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[Beta mannosidosis: a new case].

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BACKGROUND Only 11 cases of beta mannosidase deficiency have been reported until now. We report a new case. METHODS J was born at full term to consanguineous parents; her weight was 2,080 g and her height was 44 cm. During the first months of life she was hypotonic and had feeding difficulties. At

Otic pathology of caprine beta-mannosidosis.

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Caprine beta-mannosidosis is an autosomal recessive defect of glycoprotein catabolism with a deficiency of tissue and plasma beta-mannosidase activity and tissue accumulation of oligosaccharides within lysosomes. This rapidly fatal genetic disorder of Nubian goats is expressed at birth by a variety

β-Mannosidosis caused by a novel homozygous intragenic inverted duplication in MANBA.

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β-Mannosidosis is a lysosomal storage disorder characterized by accumulation of disaccharides due to deficiency of the lysosomal enzyme β-mannosidase. The disease is caused by mutations in MANBA and is extremely rare in humans. Although the clinical presentation is heterogeneous, common

Beta-mannosidase deficiency: heterogeneous manifestation in the first female patient and her brother.

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beta-Mannosidase deficiency was demonstrated in fibroblasts of a girl who showed severe psychomotor retardation, bone deformities and gargoylism and recurrent skin and respiratory infections and who died at 20 years of age from bronchopneumonia. This first demonstration of a female patient confirms

Atypical Gilles de la Tourette Syndrome with beta-mannosidase deficiency.

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BACKGROUND beta-Mannosidosis is a rare inborn error of metabolism with various phenotypes, including mental retardation, behavioral problems, hearing loss, and recurrent airway infections in childhood. To our knowledge, there is no published description of Gilles de la Tourette syndrome in

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