Galaktosialidose
Galactosialidosis
OMIM: 256540
Synonyme
- GOLDBERG SYNDROME
- NEURAMINIDASE DEFICIENCY WITH BETA-GALACTOSIDASE DEFICIENCY
- NEURAMINIDASE/BETA-GALACTOSIDASE EXPRESSION NGBE
- LYSOSOMAL PROTECTIVE PROTEIN DEFICIENCY
- CATHEPSIN A DEFICIENCY
- PROTECTIVE PROTEIN/CATHEPSIN A DEFICIENCY
- PPCA DEFICIENCY
Genorte
- CTSA(OMIM 613111)