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Mucopolysaccharidosis type IVA
Mucopolysaccharidosis type IVA (MPS IVA), also known as Morquio syndrome A, is an autosomal recessive lysosomal storage disease characterized by intracellular accumulation of keratan sulfate and chondroitin-6-sulfate.
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In vitro enzyme measurement
The use of personalized medicine to treat rare monogenic diseases like lysosomal storage disorders (LSDs) is challenged by complex clinical trial designs, high costs, and low patient numbers. Hundreds of mutant alleles…
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Frontotemporal dementia
Frontotemporal dementia (FTD) is a clinically and pathologically heterogeneous group of non-Alzheimer dementias characterized by selective and progressive atrophy involving the frontal or temporal lobes. It typically…
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GLB1-related disorders
GM1 gangliosidosis is a rare lysosomal storage disorder characterized biochemically by deficient beta-galactosidase activity and clinically by a wide range of variable neurovisceral, ophthalmological and dysmorphic…
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Niemann-Pick disease, type C
Niemann-Pick disease (NPD) is a lipid storage disorder that results from the deficiency of a lysosomal enzyme, acid sphingomyelinase. Niemann-Pick disease type C is due to variants in one of two different genes, NPC1 and…
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Gaucher disease
Gaucher disease is a rare genetic disorder characterized by the deposition of glucocerebroside in cells of the macrophage-monocyte system. The disorder results from the deficiency of the enzyme glucocerebrosidase. The…
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Assessment of Olfactory function
Olfactory dysfunction is associated with normal aging, multiple neurodegenerative disorders, including Parkinson’s disease, Lewy body disease and Alzheimer’s disease, and other diseases such as diabetes, sleep apnea…
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Pancreatic cancer
Pancreatic cancer is one of the world’s most lethal malignant neoplasms, with a 5-year survival rate of about 5-7%. Pancreatic cancer now represents the fourth to fifth most frequent cause of cancer mortality in North…
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Fabry disease
Fabry disease is a lysosomal storage disorder which will typically lead to the accumulation of the sphingolipid globotriaosylceramide (Gb3) in numerous organs of the body. The patients may presents with isolated symptoms…
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Breast cancer
Breast cancer is the most common cancer among women and it is the third leading cause of cancer death. Approximately 1 in 8 women (12%) will develop breast cancer in their lifetime. The risk factors include increasing…