Article
Whole genome sequencing for mutation discovery in a single case of lysosomal storage disease (MPS type 1) in the dog.
Scientific reports - 16 Apr 2020
Mansour Tamer A, Woolard Kevin D, Vernau Karen L, Ancona Devin M, Thomasy Sara M, Sebbag Lionel, Moore Bret A, Knipe Marguerite F, Seada Haitham A, Cowan Tina M, Aguilar Miriam, Titus Brown C, Bannasch Danika L
Abstract excerpt
Mucopolysaccharidosis (MPS) is a metabolic storage disorder caused by the deficiency of any lysosomal enzyme required for the breakdown of glycosaminoglycans. A 15-month-old Boston Terrier presented with clinical signs consistent with lysosomal storage disease including corneal opacities, multifocal central nervous system disease and progressively worsening clinical course. Diagnosis was confirmed at necropsy...
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