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Entry Name Description Category Pathway Gene
H00276 Galactosialidosis
Neuraminidase deficiency with beta-galactosidase deficiency
Galactosialidosis is an autosomal recessive lysosomal storage disorder caused by cathepsin A deficiency and accompanied by combined deficiency of beta-galactosidase [DS:H00281] and alpha-neuraminidase ... Inherited metabolic disorder, Lysosomal disease CTSA [HSA:5476] [KO:K13289]
H00422 Glycoproteinoses Glycoproteinoses are a group of autosomal recessive lysosomal storage diseases caused by deficient activities of enzymes that play important roles in the degradation of glycoproteins such as N-linked or ... Inherited metabolic disorder, Lysosomal disease (Sialidosis, Galactosialidosis) NEU1 [HSA:4758] [KO:K01186]
(Galactosialidosis) CTSA [HSA:5476] [KO:K13289]
(Galactosialidosis) GLB1 [HSA:2720] [KO:K12309]
(alpha-Mannosidosis) MAN2B1 [HSA:4125] [KO:K12311]
(beta-Mannosidosis) MANBA [HSA:4126] [KO:K01192]
(AGU) AGA [HSA:175] [KO:K01444]
(Fucosidosis) FUCA1 [HSA:2517] [KO:K01206]
(Schindler/ Kanzaki) NAGA [HSA:4668] [KO:K01204]
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