Life with too much polyprenol: polyprenol reductase deficiency.
about
Adult phenotype and further phenotypic variability in SRD5A3-CDG.Phenotypic Expansion of Congenital Disorder of Glycosylation Due to SRD5A3 Null Mutation.A case of fatal Type I congenital disorders of glycosylation (CDG I) associated with low dehydrodolichol diphosphate synthase (DHDDS) activityPlant polyisoprenoids and control of cholesterol level.Skin manifestations in CDG.Adverse effects of 5α-reductase inhibitors: What do we know, don't know, and need to know?Limitations of galactose therapy in phosphoglucomutase 1 deficiencyNews on Clinical Details and Treatment in PGM1-CDGEthanol-induced impairment in the biosynthesis of N-linked glycosylation.Single-center experience of N-linked Congenital Disorders of Glycosylation with a Summary of Molecularly Characterized Cases in Arabs.POLYPRENOL REDUCTASE2 Deficiency Is Lethal in Arabidopsis Due to Male Sterility.SRD5A3-CDG: Expanding the phenotype of a congenital disorder of glycosylation with emphasis on adult onset features.
P2860
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P2860
Life with too much polyprenol: polyprenol reductase deficiency.
description
2011 nî lūn-bûn
@nan
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
2011年论文
@zh
2011年论文
@zh-cn
name
Life with too much polyprenol: polyprenol reductase deficiency.
@ast
Life with too much polyprenol: polyprenol reductase deficiency.
@en
type
label
Life with too much polyprenol: polyprenol reductase deficiency.
@ast
Life with too much polyprenol: polyprenol reductase deficiency.
@en
prefLabel
Life with too much polyprenol: polyprenol reductase deficiency.
@ast
Life with too much polyprenol: polyprenol reductase deficiency.
@en
P2093
P2860
P1476
Life with too much polyprenol: polyprenol reductase deficiency.
@en
P2093
C R H Raetz
I Du Chesne
J E H Gründahl
J Siedlecka
M G Häusler
N Ortiz-Brüchle
S Rudnik-Schöneborn
P2860
P304
P356
10.1016/J.YMGME.2011.12.017
P577
2011-12-29T00:00:00Z