(Q42935520)

11 November 2017

Normal glycosylation screening does not rule out SRD5A3-CDG. (English)

1 reference

11 November 2017

1 reference

3

Lihadh Al-Gazali

1 reference

11 November 2017

Miski Mohamed

1

1 reference

11 November 2017

Vincent Cantagrel

2

1 reference

11 November 2017

Ron A Wevers

4

1 reference

11 November 2017

Dirk J Lefeber

5

1 reference

11 November 2017

Eva Morava

6

1 reference

11 November 2017

13 July 2011

1 reference

European Journal of Human Genetics

11 November 2017

1 reference

11 November 2017

19

1 reference

11 November 2017

10

1 reference

11 November 2017

1019

1 reference

Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3

11 November 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3190245

SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3190245

Autosomal recessive cutis laxa syndrome revisited

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3190245

A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism.

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3190245

A new autosomal recessive syndrome of ocular colobomas, ichthyosis, brain malformations and endocrine abnormalities in an inbred Emirati family.

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3190245

Cerebellar ataxia and congenital disorder of glycosylation Ia (CDG-Ia) with normal routine CDG screening

16 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21750573

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Peters Plus syndrome is a new congenital disorder of glycosylation and involves defective Omicron-glycosylation of thrombospondin type 1 repeats

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21750573

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2010.260

1 reference

Dimensions Publication ID

11 November 2017

0 references

1 reference

11 November 2017

PubMed publication ID

21750573

1 reference