P705: Diagnosis of galactosialidosis, a rare lysosomal disorder, by combined genome sequencing and biochemical genetic testing

Genetics in Medicine Open 2026 Open access

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Authors: Thomas A. Jascur, Sarah Barnett, Cassandra Runke, Lidija K. Gorsic, Amy White, Patricia Hall, Matthew Schultz, Dietrich Matern, Nicole J. Boczek
DOI: 10.1016/j.gimo.2026.104195
Cited by: 0

Fields of Study & Subjects

Lysosomal Storage Disorders Research Metabolism and Genetic Disorders Glycogen Storage Diseases and Myoclonus

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
104195–104195
Publication date
1 January 2026
Language
EN