Sialuria

Seppala R et al. (1999) Mutations in the human UDP-N-acetylglucosamine 2-epimerase gene define the disease sialuria and the allosteric site of the enzyme.

Leroy JG et al. (2001) Dominant inheritance of sialuria, an inborn error of feedback inhibition.

Thomas GH et al. (1989) Evidence for non-lysosomal storage of N-acetylneuraminic acid (sialic acid) in sialuria fibroblasts.

Enns GM et al. (2001) Clinical course and biochemistry of sialuria.

Don NA et al. (1991) Sialuria: a follow-up report.

Seppala R et al. (1991) Sialic acid metabolism in sialuria fibroblasts.

Wilcken B et al. (1987) Sialuria: a second case.

Weiss P et al. (1989) Identification of the metabolic defect in sialuria.

Thomas GH et al. (1985) Overproduction of N-acetylneuraminic acid (sialic acid) by sialuria fibroblasts.

Kamerling JP et al. (1979) 2-Acetamidoglucal, a new metabolite isolated from the urine of a patient with sialuria.

Montreuil J et al. (1968) [Description of a new type of melituria, called sialuria]

Hooft C et al. (1968) Familial non-congenital microcephaly, peculiar appearance, mental and motor retardation, progressive evolution to spasticity and choreo-athetosis.

Krasnewich DM et al. (1993) Clinical and biochemical studies in an American child with sialuria.

OMIM.ORG article

Orphanet article

Wikipedia article