(Q35085455)

6 August 2017

0 references

Adult phenotype and further phenotypic variability in SRD5A3-CDG. (English)

1 reference

6 August 2017

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24433453%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

author name string

Bülent Kara

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24433453%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Özgecan Ayhan

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24433453%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Gülden Gökçay

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24433453%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

Nurdan Başboğaoğlu

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24433453%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

publication date

16 January 2014

1 reference

6 August 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24433453%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

volume

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24433453%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

page(s)

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24433453%20AND%20SRC:MED&resulttype=core&format=json

Approaches to homozygosity mapping and exome sequencing for the identification of novel types of CDG.

1 June 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3898029

Life with too much polyprenol: polyprenol reductase deficiency

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3898029

Congenital disorders of glycosylation (CDG): it's (nearly) all in it!

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3898029

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3898029

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3898029

An autosomal recessive syndrome of severe mental retardation, cataract, coloboma and kyphosis maps to the pericentromeric region of chromosome 4.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3898029

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

8 July 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-15-10

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-15-10

SRD5A3-CDG: a patient with a novel mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-15-10

A homozygous frameshift mutation of sepiapterin reductase gene causing parkinsonism with onset in childhood.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-15-10

A new case of CDG-x with stereotyped dystonic hand movements and optic atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-15-10

Ophthalmological abnormalities in children with congenital disorders of glycosylation type I.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-15-10

Normal glycosylation screening does not rule out SRD5A3-CDG.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-15-10

A new subtype of a congenital disorder of glycosylation (CDG) with mild clinical manifestations.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3898029

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

27 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24433453

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/1471-2350-15-10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24433453%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

1 June 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24433453%20AND%20SRC:MED&resulttype=core&format=json

1 June 2020

24433453

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24433453%20AND%20SRC:MED&resulttype=core&format=json