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Sialuria: a Follow-up Report

Overview
Journal J Inherit Metab Dis
Publisher Wiley
Date 1991 Jan 1
PMID 1779656
Citations 4
Authors
N A Don
B Wilcken
Affiliations
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Citing Articles

Sialuria: Ninth Patient Described Has a Novel Mutation in GNE.

Martinez N, Lipke M, Robinson J, Wilcken B JIMD Rep. 2018; 44:17-21.

PMID: 29923088 PMC: 6323021. DOI: 10.1007/8904_2018_117.

Clinical course and biochemistry of sialuria.

Enns G, Seppala R, Musci T, Weisiger K, Ferrell L, Wenger D J Inherit Metab Dis. 2001; 24(3):328-36.

PMID: 11486897 DOI: 10.1023/a:1010588115479.

Dominant inheritance of sialuria, an inborn error of feedback inhibition.

Leroy J, Seppala R, Huizing M, dAcremont G, De Simpel H, Van Coster R Am J Hum Genet. 2001; 68(6):1419-27.

PMID: 11326336 PMC: 1226128. DOI: 10.1086/320598.

Mutations in the human UDP-N-acetylglucosamine 2-epimerase gene define the disease sialuria and the allosteric site of the enzyme.

Seppala R, Lehto V, Gahl W Am J Hum Genet. 1999; 64(6):1563-9.

PMID: 10330343 PMC: 1377899. DOI: 10.1086/302411.

References
1.
Wilcken B, Don N, Greenaway R, Hammond J, Sosula L . Sialuria: a second case. J Inherit Metab Dis. 1987; 10(2):97-102. DOI: 10.1007/BF01800030. View