[Galactosialidosis: a new "de novo" mutation in CTSA gene in a patient with late infantile galactosialidosis].
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DOI: 10.5546/aap.2018.e88
Abstract: Galactosialidosis (OMIM #256540) is an autosomal recessive lysosomal storage disorder caused by mutations in the CTSA gene, which encodes the protective protein cathepsin A. The loss of function of this protein causes a secondarily deficiency… read more here.
Keywords: galactosialidosis new; galactosialidosis; late infantile; ctsa gene ... See more keywords