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Center for Nephrology and Metabolic Disorders
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Infantile sialic acid storage disorder

Infantile sialic acid storage disorder (ISSD) is an autosomal recessive neurodegenerative disorders resulting from increased lysosomal storage of free sialic acid. The clinical picture is characterized by severe developmental delay, coarse facial features, hepatosplenomegaly, and cardiomegaly. Death usually occurs in early childhood.

Systematic

Glycolipidosis
Inclusion body myopathy 2
Infantile sialic acid storage disorder
SLC17A5
Nonaka myopathy
Salla disease
Sialuria
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