Galactosialidosis (GSL)

Galactosialidosis(来自ICD-11)

别称:

Neuraminidase Deficiency with Beta-Galactosidase Deficiency

Goldberg Syndrome

Lysosomal Protective Protein Deficiency

Ppca Deficiency

Cathepsin a Deficiency

Gsl

Combined Deficiency of Sialidase and Beta Galactosidase

Neuraminidase/beta-Galactosidase Expression

Neuraminidase Beta-Galactosidase Deficiency

Protective Protein/cathepsin a Deficiency

Protective Protein Cathepsin a Deficiency

Deficiency of Cathepsin a

Ngbe

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Galactosialidosis, also known as neuraminidase deficiency with beta-galactosidase deficiency, is related to angiokeratoma and mucopolysaccharidoses. An important gene associated with Galactosialidosis is CTSA (Cathepsin A), and among its related pathways/superpathways are Innate Immune System and Metabolism. Affiliated tissues include bone and bone marrow, and related phenotypes are intellectual disability and seizure

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