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 acid storage diseaseAn Italian severe Salla disease variant associated with a SLC17A5 mutation earlier described in infantile sialic acid storage diseaseSialylation is essential for early development in mice.UDP-GlcNAc 2-Epimerase/ManNAc Kinase (GNE): A Master Regulator of Sialic Acid Synthesis.Sialylation Is Dispensable for Early Murine Embryonic Development in Vitro.The spectrum of free neuraminic acid storage disease in childhood: clinical, morphological and biochemical observations in three non-Finnish patients.Protein kinase C phosphorylates and regulates UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase.
P2860
Q24533534-4268B61D-D29E-486D-88D1-E91F050DBE64Q24540069-752B3634-EE79-4F60-8A9E-C663F5FC26E3Q24678430-15F46C5D-6331-4840-AEFB-D3F57EA49959Q28214843-EF73D1F5-64CC-4BA7-B828-C9D72C0CAED5Q34024283-5CDA462C-4BC5-4C49-BAA0-0450E302875CQ34167791-8243AC1D-A393-4BB0-BD01-167655D5D800Q38709012-7280B8BD-815D-421A-855C-A5437AD577D8Q39448067-9D7BBE97-F291-4040-AB62-D05FBCD34596Q40890011-60FC880B-4043-438A-AA6D-33E4FD4E331D
P2860
description
1987 nî lūn-bûn
@nan
1987 թուականին հրատարակուած գիտական յօդուած
@hyw
1987 թվականին հրատարակված գիտական հոդված
@hy
1987年の論文
@ja
1987年論文
@yue
1987年論文
@zh-hant
1987年論文
@zh-hk
1987年論文
@zh-mo
1987年論文
@zh-tw
1987年论文
@wuu
name
Sialuria: a second case
@ast
Sialuria: a second case
@en
Sialuria: a second case
@nl
type
label
Sialuria: a second case
@ast
Sialuria: a second case
@en
Sialuria: a second case
@nl
prefLabel
Sialuria: a second case
@ast
Sialuria: a second case
@en
Sialuria: a second case
@nl
P2093
P356
P1476
Sialuria: a second case
@en
P2093
P2888
P304
P356
10.1007/BF01800030
P407
P577
1987-01-01T00:00:00Z
P6179
1028740820