Clinical utility gene card for: α-Mannosidosis
نویسندگان
چکیده
منابع مشابه
Retinal dystrophy in 2 brothers with α-Mannosidosis.
OU, a failed corneal graft with corneal thinning and an epithelial defect in the right eye, and severe corneal thinning with a corneal perforation in the left eye. The corneal perforation in the left eye was managed with cyanoacrylate glue and a bandage contact lens. The patient was malnourished because of her social situation and psychiatric deterioration, with a vitamin A level of 5 μg/dL. Af...
متن کاملAlpha-mannosidosis
Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual disability. It occurs in approximately 1 of 500,000 live births. The children are often born apparently normal, and their condition worsens progressively. Some children are born with ankle equinus or develop hydrocephalus in th...
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α-Mannosidosis is a rare lysosomal storage disease with accumulation of undegraded mannosyl-linked oligosaccharides in cells throughout the body, most notably in the CNS. This leads to a broad spectrum of neurological manifestations, including progressive intellectual impairment, disturbed motor functions, and cerebellar atrophy. To develop therapeutic outcome measures for enzyme replacement th...
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Alzheimer's disease (AD) is the largest cause of dementia, affecting 35.6 million people in 2010. Amyloid precursor protein, presenilin 1 and presenilin 2 mutations are known to cause familial early-onset AD, whereas apolipoprotein E (APOE) ε4 is a susceptibility gene for late-onset AD. The genes for phosphatidylinositol-binding clathrin assembly protein, clusterin and complement receptor 1 hav...
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ژورنال
عنوان ژورنال: European Journal of Human Genetics
سال: 2011
ISSN: 1018-4813,1476-5438
DOI: 10.1038/ejhg.2011.5