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H804

Lysosomal storage disease is a metabolic disease characterised by (partial) inability to break down metabolites caused by absence or malfunctioning of lysosomal enzymes.

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

Lysosomal storage disease is a metabolic disease characterised by (partial) inability to break down metabolites caused by absence or malfunctioning of lysosomal enzymes. The storage of these metabolites is in a part of the cell called the lysosome.

Clinical features

Affected dogs have late-onset and slowly progressive behavioral changes, cognitive and motor degeneration, ataxia, seizures, and premature death.

Additional information

References

Pubmed ID: 20679209

Omia ID: 1503

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3. Results

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