" /> Neuraminidase Deficiency - CISMeF





Preferred Label : Neuraminidase Deficiency;

NCIt synonyms : Sialidosis Type II; Mucolipidosis I;

NCIt definition : An autosomal recessive inherited lysosomal storage disease characterized by excessive intracellular accumulation and urinary excretion of sialic acid associated with neuraminidase deficiency.;

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30/07/2025


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