Die Sialurie ist eine autosomal rezessive Erkrankung, die durch Mutationen des GNE-Gens hervorgerufen wird.
Glycolipidose | ||||
Infantile Sialinsäurespeicherkrankheit | ||||
Inkludionskörpermyopathie 2 | ||||
Nonaka-Myopathie | ||||
Salla Erkrankung | ||||
Sialurie | ||||
GNE | ||||
1. |
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. |
2. |
Leroy JG et al. (2001) Dominant inheritance of sialuria, an inborn error of feedback inhibition. |
3. |
Thomas GH et al. (1989) Evidence for non-lysosomal storage of N-acetylneuraminic acid (sialic acid) in sialuria fibroblasts. |
4. |
Enns GM et al. (2001) Clinical course and biochemistry of sialuria. |
5. |
Don NA et al. (1991) Sialuria: a follow-up report. |
6. |
Seppala R et al. (1991) Sialic acid metabolism in sialuria fibroblasts. |
7. |
Wilcken B et al. (1987) Sialuria: a second case. |
8. |
Weiss P et al. (1989) Identification of the metabolic defect in sialuria. |
9. |
Thomas GH et al. (1985) Overproduction of N-acetylneuraminic acid (sialic acid) by sialuria fibroblasts. |
10. |
Kamerling JP et al. (1979) 2-Acetamidoglucal, a new metabolite isolated from the urine of a patient with sialuria. |
11. |
Montreuil J et al. (1968) [Description of a new type of melituria, called sialuria] |
12. |
Hooft C et al. (1968) Familial non-congenital microcephaly, peculiar appearance, mental and motor retardation, progressive evolution to spasticity and choreo-athetosis. |
13. |
Krasnewich DM et al. (1993) Clinical and biochemical studies in an American child with sialuria. |
14. |
OMIM.ORG article Omim 269921 |
15. |
Orphanet article Orphanet ID 3166 |