(Q40241808)

18 September 2017

A novel mutation and first report of dilated cardiomyopathy in ALG6-CDG (CDG-Ic): a case report (English)

1 reference

18 September 2017

dilated cardiomyopathy

1 reference

Mohammed Al-Owain

1

1 reference

18 September 2017

Sarar Mohamed

2

1 reference

18 September 2017

Namik Kaya

3

1 reference

18 September 2017

Ahmad Zagal

4

1 reference

18 September 2017

Gert Matthijs

5

1 reference

18 September 2017

Jaak Jaeken

6

1 reference

18 September 2017

16 April 2010

1 reference

Orphanet Journal of Rare Diseases

18 September 2017

1 reference

18 September 2017

5

1 reference

18 September 2017

7

1 reference

Creative Commons Attribution 2.0 Generic

18 September 2017

start time

16 April 2010

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

1 reference

April 2022 Public Data File from Crossref

exact match

https://scigraph.springernature.com/pub.10.1186/1750-1172-5-7

0 references

cites work

CDG nomenclature: time for a change!

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2861021

Cardiomyopathy in the congenital disorders of glycosylation (CDG): a case of late presentation and literature review.

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2861021

Prenatal cardiac ultrasound finding in congenital disorder of glycosylation type 1a.

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2861021

Diagnostic Approaches to Pediatric Cardiomyopathy of Metabolic Genetic Etiologies and Their Relation to Therapy

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2861021

Congenital disorders of glycosylation--a challenging group of IEMs

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2861021

A defect in dolichol phosphate biosynthesis causes a new inherited disorder with death in early infancy

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2861021

Mutation of the COG complex subunit gene COG7 causes a lethal congenital disorder

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2861021

Cardiomyopathy in congenital disorders of glycosylation.

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2861021

PANTHER: a library of protein families and subfamilies indexed by function

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2861021

Komrower Lecture. Congenital disorders of glycosylation (CDG): it's all in it!

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2861021

SIFT: Predicting amino acid changes that affect protein function

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2861021

Congenital disorders of glycosylation: a review

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2861021

Congenital disorders of glycosylation: the rapidly growing tip of the iceberg

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2861021

Prediction of deleterious human alleles

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2861021

Analysis of multiple mutations in the hALG6 gene in a patient with congenital disorder of glycosylation Ic

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2861021

Multi-allelic origin of congenital disorder of glycosylation (CDG)-Ic

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2861021

Genotypes and phenotypes of patients in the UK with carbohydrate-deficient glycoprotein syndrome type 1

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2861021

Olivopontocerebellar atrophy of neonatal onset and disialotransferrin developmental deficiency syndrome

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2861021

Glycosylation type Ic disorder: idiopathic intracranial hypertension and retinal degeneration

22 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2861021

Carbohydrate deficient glycoprotein syndrome; multiple abnormalities and diagnostic delay

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2861021

Sialic acid-deficient serum and cerebrospinal fluid transferrin in a newly recognized genetic syndrome

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2861021

Hypertrophic obstructive cardiomyopathy in a neonate with the carbohydrate‐deficient glycoprotein syndrome

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2861021

On the nomenclature of congenital disorders of glycosylation (CDG).

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2861021

Congenital disorder of glycosylation-X: clinicopathologic study of an autopsy case with distinct neuropathologic features.

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2861021

Expanding spectrum of congenital disorder of glycosylation Ig (CDG-Ig): sibs with a unique skeletal dysplasia, hypogammaglobulinemia, cardiomyopathy, genital malformations, and early lethality.

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2861021

Congenital disorder of glycosylation type Ia: a clinicopathological report of a newborn infant with cerebellar pathology

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2861021

Clinical and biochemical characteristics of congenital disorder of glycosylation type Ic, the first recognized endoplasmic reticulum defect in N-glycan synthesis.

20 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2861021

Prenatal hypertrophic cardiomyopathy and pericardial effusion in carbohydrate-deficient glycoprotein syndrome

20 August 2018

1 reference

12 December 2020

Carbohydrate-deficient glycoprotein syndromes: the Italian experience

1 reference

12 December 2020

Clinical and molecular characterization of the first adult congenital disorder of glycosylation (CDG) type Ic patient

1 reference

12 December 2020

The liver in congenital disorders of glycosylation: ultrastructural features

1 reference

12 December 2020

Congenital disorder of glycosylation-Ic: case report and genetic defect

1 reference

12 December 2020

Identifiers

DOI

10.1186/1750-1172-5-7

1 reference

Dimensions Publication ID

18 September 2017

0 references

1 reference

18 September 2017

1 reference