[Description of a new type of melituria, called sialuria].
about
Dominant inheritance of sialuria, an inborn error of feedback inhibitionMutations in the human UDP-N-acetylglucosamine 2-epimerase gene define the disease sialuria and the allosteric site of the enzymeSialic acids as link to Japanese scientistsSialylation is essential for early development in mice.UDP-GlcNAc 2-Epimerase/ManNAc Kinase (GNE): A Master Regulator of Sialic Acid Synthesis.Studies on the defect underlying the lysosomal storage of sialic acid in Salla disease. Lysosomal accumulation of sialic acid formed from N-acetyl-mannosamine or derived from low density lipoprotein in cultured mutant fibroblasts.The role and potential of sialic acid in human nutrition.The nutritional role of free sialic acid, a human milk monosaccharide, and its application as a functional food ingredient.Protein kinase C phosphorylates and regulates UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase.Defective GNE causes sialuria, Nonaka myopathy and inclusion body myopathy 2Generalized N-acetylneuraminic acid storage disease: quantitation and identification of the monosaccharide accumulating in brain and other tissues.
P2860
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P2860
[Description of a new type of melituria, called sialuria].
description
1968 nî lūn-bûn
@nan
1968年の論文
@ja
1968年学术文章
@wuu
1968年学术文章
@zh
1968年学术文章
@zh-cn
1968年学术文章
@zh-hans
1968年学术文章
@zh-my
1968年学术文章
@zh-sg
1968年學術文章
@yue
1968年學術文章
@zh-hant
name
[Description of a new type of melituria, called sialuria].
@en
[Description of a new type of melituria, called sialuria].
@nl
type
label
[Description of a new type of melituria, called sialuria].
@en
[Description of a new type of melituria, called sialuria].
@nl
prefLabel
[Description of a new type of melituria, called sialuria].
@en
[Description of a new type of melituria, called sialuria].
@nl
P2093
P1433
P1476
[Description of a new type of melituria, called sialuria].
@en
P2093
P356
10.1016/0009-8981(68)90011-9
P577
1968-07-01T00:00:00Z