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genu valgum/hearing loss

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4 结果

Establishment of Human Cellular Disease Models for Morquio Disease

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The mucopolysaccharidoses are a group of inherited lysosomal storage disorders. Lysosomes function as the primary digestive units within cells. Enzymes within lysosomes break down or digest particular nutrients, such as certain carbohydrates and fats. In individuals with MPS disorders, deficiency or

European Alpha-Mannosidosis Participant

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Alpha-Mannosidosis is a lysosomal storage disorder of the Glycoprotein family of diseases and is closely related to Mucopolysaccharidoses.It is a rare inherited disorder that causes problems in many organs and tissues of the body. Affected individuals may have intellectual disability, distinctive

Biomarker for Mannosidosis Disease (BioMannosidosis)

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Alpha-Mannosidosis is a rare lysosomal storage disorder of the Glycoprotein family of diseases and is closely related to Mucopolysaccharidoses. Alpha-Mannosidosis was first described by Dr Oekerman, from Lund in Sweden in 1967. There is another variant known as Beta-Mannosidosis, which is extremely

Biomarker for Morquio Disease (BioMorquio)

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Morquio syndrome (mucopolysaccharidosis type IV; MPS IV) is a mucopolysaccharide storage disease that exists in two forms (Morquio syndromes A and B) and occurs because of a deficiency of the enzymes N-acetyl-galactosamine-6-sulfatase and beta-galactosidase, respectively. A deficiency of either
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