Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Sialuria is an autosomal recessive disorder that is caused by mutations of the GNE gene.
Glycolipidosis
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Inclusion body myopathy 2
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Infantile sialic acid storage disorder
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Nonaka myopathy
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Salla disease
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Sialuria
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GNE
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