| 1 | IBM2, SIAFT
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| Molecular modeling of the bifunctional enzyme UDP-GlcNAc 2-epimerase/ManNAc kinase and predictions of structural effects of mutations associated with HIBM and sialuria.
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| Kurochkina N, Yardeni T, Huizing M.
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| Glycobiology 20(3):322-37. doi: 10.1093/glycob/cwp176. Epub 2009 Nov 16.
2010
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| 2 | SIAFT
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| Dominant inheritance of sialuria, an inborn error of feedback inhibition.
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| Leroy JG, Seppala R, Huizing M, Dacremont G, De Simpel H, Van Coster RN, Orvisky E, Krasnewich DM, Gahl WA.
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| Am J Hum Genet 68(6):1419-27. 2001
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| 3 | SIAFT
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| Mutations in the human UDP-N-acetylglucosamine 2-epimerase gene define the disease sialuria and the allosteric site of the enzyme.
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| Seppala R, Lehto VP, Gahl WA.
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| Am J Hum Genet 64(6):1563-9. 1999
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| 4 | SIAFT
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| Clinical and biochemical studies in an American child with sialuria.
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| Krasnewich DM, Tietze F, Krause W, Pretzlaff R, Wenger DA, Diwadkar V, Gahl WA.
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| Biochem Med Metab Biol 49(1):90-6. 1993
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| 5 | SIAFT
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| [Description of a new type of melituria, called sialuria]
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| Montreuil J, Biserte G, Strecker G, Spik G, Fontaine G, Farriaux JP.
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| Clin Chim Acta 21(1):61-9. French. No abstract available. 1968
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