" /> Galactosialidosis - CISMeF





Preferred Label : Galactosialidosis;

NCIt synonyms : GSL; Neuraminidase Deficiency with Beta-Galactosidase Deficiency; Goldberg Syndrome;

NCIt definition : An autosomal recessive lysosomal storage disease caused by mutation(s) in the CTSA gene, encoding lysosomal protective protein. It is characterized by a combined deficiency of neuraminidase and beta-galactosidase.;

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26/07/2025


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