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sialidosis
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CTSA
Human beta-galactosidase gene mutations in GM1-gangliosidosis: a common mutation among Japanese adult/chronic cases.
The gene encoding human protective protein (PPGB) is on chromosome 20.
Combined deficiency of beta-galactosidase and neuraminidase: natural history of the disease in the first 18 years of an American patient with late infantile onset form.
NEU1
Splice donor site mutation in the lysosomal neuraminidase gene causing exon skipping and complete loss of enzyme activity in a sialidosis patient
Intracellular distribution of lysosomal sialidase is controlled by the internalization signal in its cytoplasmic tail
Prenatal diagnosis and fetal pathology in a Turkish family harboring a novel nonsense mutation in the lysosomal alpha-N-acetyl-neuraminidase (sialidase) gene
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Sphingolipid metabolism
Homo sapiens (human)
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External
Nervous System Degeneration in Glycosphingolipid Storage Disorders