Sialuria: Ninth Patient Described Has a Novel Mutation in GNE
Sialuria is a rare autosomal dominant inborn error of metabolism characterized by cytoplasmic accumulation and urinary excretion of gram quantities of free sialic acid due to failure of feedback inhibition of the rate-limiting enzyme in the sialic acid synthesis pathway, UDP-N-acetylglucosamine 2-ep...
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| Main Authors: | , , , |
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| Format: | Text |
| Language: | English |
| Published: |
Springer Berlin Heidelberg
2018
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| Subjects: | |
| Online Access: | https://pmc.ncbi.nlm.nih.gov/articles/PMC6323021/ https://pubmed.ncbi.nlm.nih.gov/29923088 http://dx.doi.org/10.1007/8904_2018_117 |
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