SRD5A3-CDG: a patient with a novel mutation.

SRD5A3-CDG: a patient with a novel mutation.

Item
http://www.wikidata.org/entity/Q45345400
Mutation of Nogo-B receptor, a subunit of cis-prenyltransferase, causes a congenital disorder of glycosylationAdult 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) activityHeritable disorders in the metabolism of the dolichols: A bridge from sterol biosynthesis to molecular glycosylation.Regulation of dolichol-linked glycosylation.Adverse effects of 5α-reductase inhibitors: What do we know, don't know, and need to know?Cardiac complications of congenital disorders of glycosylation (CDG): a systematic review of the literature.Defective SRD5A3 causes SRD5A3-CDG (CDG-1q) and KHRZDefective SRD5A3 does not reduce pPNOL to DCHOLSRD5A3 reduces pPNOL to DCHOLSRD5A3-CDG: Expanding the phenotype of a congenital disorder of glycosylation with emphasis on adult onset features.
P2860

SRD5A3-CDG: a patient with a novel mutation.

Item
http://www.wikidata.org/entity/Q45345400
description
2012 nî lūn-bûn
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name
SRD5A3-CDG: a patient with a novel mutation.
@en
SRD5A3-CDG: a patient with a novel mutation.
@nl
type
label
SRD5A3-CDG: a patient with a novel mutation.
@en
SRD5A3-CDG: a patient with a novel mutation.
@nl
prefLabel
SRD5A3-CDG: a patient with a novel mutation.
@en
SRD5A3-CDG: a patient with a novel mutation.
@nl
P1433
P1476
P2093
P304
P31
P356
P433
P478
P577
P698
P921
P356
P1433
P1476
SRD5A3-CDG: a patient with a novel mutation.
@en
P2093
P304
P31
P356
10.1016/J.EJPN.2011.12.011
P433
P478
P577
P698
P921