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K651

Mucopolysaccharidosis (MPS VI) belongs to a group of lysosomal storage disorders in which various lysosomal enzymes are deficient and is also known as Maroteaux-Lamy syndrome.

10 working days

Specifications

Breeds

Gene

Organ

specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue

Mode of Inheritance

Chromosome

Also known as

Year Published

General information

Mucopolysaccharidosis (MPS VI) belongs to a group of lysosomal storage disorders in which various lysosomal enzymes are deficient and is also known as Maroteaux-Lamy syndrome.

Clinical features

The disease is characterised by growth retardation, coarse facial features, skeletal deformities, and organ and soft tissue involvement.

Additional information

References

Pubmed ID: 8910299

Omia ID: 666

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