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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.

Sialuria is a rare inborn error of metabolism characterized by cytoplasmic accumulation and increased urinary excretion of free N-acetylneuraminic acid (NeuAc, sialic acid). Overproduction of NeuAc is believed to result from loss of feedback inhibition of uridinediphosphate-N-acetylglucosamine 2-epi...

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Detalhes bibliográficos
Main Authors: Seppala, R, Lehto, V P, Gahl, W A
Formato: Artigo
Idioma:Inglês
Publicado em: 1999
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1377899/
https://ncbi.nlm.nih.gov/pubmed/10330343
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