Condition: Type I Mucolipidosis


rs398123392 in CYP21A2;NEU1 gene and Type I Mucolipidosis PMID 16712870 2006 First report of two Taiwanese siblings with sialidosis type I: a 10-year follow-up study.

PMID 10767332 2000 Characterization of the sialidase molecular defects in sialidosis patients suggests the structural organization of the lysosomal multienzyme complex.

PMID 24808020 2014 Expanding sialidosis spectrum by genome-wide screening: NEU1 mutations in adult-onset myoclonus.