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- Die β-Mannosidose ist eine äußerst seltene autosomal-rezessiv vererbte lysosomale Speicherkrankheit aus der Gruppe der Oligosaccharidosen. (de)
- Beta-mannosidosis, also called lysosomal beta-mannosidase deficiency, is a disorder of oligosaccharide metabolism caused by decreased activity of the enzyme beta-mannosidase. This enzyme is coded for by the gene MANBA, located at 4q22-25. Beta-mannosidosis is inherited in an autosomal recessive manner. Affected individuals appear normal at birth, and can have a variable clinical presentation. Infantile onset forms show severe neurodegeneration, while some children have intellectual disability. Hearing loss and angiokeratomas are common features of the disease. (en)
- La β-mannosidosi o deficit dell'enzima β-mannosidasi o semplicemente β-mannosidasi (in inglese: Lysosomal beta-mannosidase deficiency o Beta-mannosidase deficiency), è una rara malattia genetica di tipo autosomico recessivo facente parte dell'eterogeneo gruppo delle malattie da accumulo lisosomiale inquadrata nel sottogruppo delle . La patologia è molto rara e si caratterizza per una immunodeficienza e deficit dello sviluppo, con possibili epilessie. (it)
- Бета-маннозидоз — редкое аутосомно-рецессивное наследственное заболевание из группы лизосомных болезней накопления, связанное с нарушением метаболизма олигосахаридов в результате снижения активности фермента лизосом . (ru)
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- Beta-mannosidase deficiency, MANSB
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- 7823 (xsd:nonNegativeInteger)
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- This condition is autosomal recessive in inheritance (en)
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- Mutations in the MANBA gene (en)
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- Respiratory infections, Hearing loss and Intellectual disability. (en)
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- Beta-mannosidase deficiency, MANSB (en)
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- Die β-Mannosidose ist eine äußerst seltene autosomal-rezessiv vererbte lysosomale Speicherkrankheit aus der Gruppe der Oligosaccharidosen. (de)
- Beta-mannosidosis, also called lysosomal beta-mannosidase deficiency, is a disorder of oligosaccharide metabolism caused by decreased activity of the enzyme beta-mannosidase. This enzyme is coded for by the gene MANBA, located at 4q22-25. Beta-mannosidosis is inherited in an autosomal recessive manner. Affected individuals appear normal at birth, and can have a variable clinical presentation. Infantile onset forms show severe neurodegeneration, while some children have intellectual disability. Hearing loss and angiokeratomas are common features of the disease. (en)
- La β-mannosidosi o deficit dell'enzima β-mannosidasi o semplicemente β-mannosidasi (in inglese: Lysosomal beta-mannosidase deficiency o Beta-mannosidase deficiency), è una rara malattia genetica di tipo autosomico recessivo facente parte dell'eterogeneo gruppo delle malattie da accumulo lisosomiale inquadrata nel sottogruppo delle . La patologia è molto rara e si caratterizza per una immunodeficienza e deficit dello sviluppo, con possibili epilessie. (it)
- Бета-маннозидоз — редкое аутосомно-рецессивное наследственное заболевание из группы лизосомных болезней накопления, связанное с нарушением метаболизма олигосахаридов в результате снижения активности фермента лизосом . (ru)
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| rdfs:label
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- Β-Mannosidose (de)
- Beta-mannosidosis (en)
- Β-mannosidasi (it)
- Бета-маннозидоз (ru)
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