An Italian severe Salla disease variant associated with a SLC17A5 mutation earlier described in infantile sialic acid storage disease
about
sameAs
Mechanism of uptake and incorporation of the non-human sialic acid N-glycolylneuraminic acid into human cells.Clinical, morphological, and molecular aspects of sialic acid storage disease manifesting in uteroSialic acids in human health and disease.Functional characterization of wild-type and mutant human sialin.Infantile Sialic Acid Storage Disease: Two Unrelated Inuit Cases Homozygous for a Common Novel SLC17A5 Mutation.
P2860
An Italian severe Salla disease variant associated with a SLC17A5 mutation earlier described in infantile sialic acid storage disease
description
2002 nî lūn-bûn
@nan
2002 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2002年の論文
@ja
2002年論文
@yue
2002年論文
@zh-hant
2002年論文
@zh-hk
2002年論文
@zh-mo
2002年論文
@zh-tw
2002年论文
@wuu
name
An Italian severe Salla diseas ...... le sialic acid storage disease
@ast
An Italian severe Salla diseas ...... le sialic acid storage disease
@en
An Italian severe Salla diseas ...... le sialic acid storage disease
@nl
type
label
An Italian severe Salla diseas ...... le sialic acid storage disease
@ast
An Italian severe Salla diseas ...... le sialic acid storage disease
@en
An Italian severe Salla diseas ...... le sialic acid storage disease
@nl
prefLabel
An Italian severe Salla diseas ...... le sialic acid storage disease
@ast
An Italian severe Salla diseas ...... le sialic acid storage disease
@en
An Italian severe Salla diseas ...... le sialic acid storage disease
@nl
P2093
P2860
P1433
P1476
An Italian severe Salla diseas ...... le sialic acid storage disease
@en
P2093
F W Verheijen
G M S Mancini
L Roccatagliata
Op van Diggelen
R Biancheri
P2860
P304
P356
10.1034/J.1399-0004.2002.610608.X
P407
P50
P577
2002-06-01T00:00:00Z