(Q36903609)

17 August 2017

Further Delineation of the ALG9-CDG Phenotype (English)

1 reference

17 August 2017

1 reference

7

Fowzan S Alkuraya

1 reference

17 August 2017

Sarah AlSubhi

1

1 reference

17 August 2017

Amal AlHashem

2

1 reference

17 August 2017

Anas AlAzami

3

1 reference

17 August 2017

Kalthoum Tlili

4

1 reference

17 August 2017

Saad AlShahwan

5

1 reference

17 August 2017

Dirk Lefeber

6

1 reference

17 August 2017

Brahim Tabarki

8

1 reference

17 August 2017

10 October 2015

1 reference

Journal of Inherited Metabolic Disorders Reports

17 August 2017

1 reference

17 August 2017

27

1 reference

17 August 2017

107-112

1 reference

Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases

17 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4867846

ALG8-CDG: novel patients and review of the literature

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4867846

A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4867846

Diagnosis of ALG12-CDG by exome sequencing in a case of severe skeletal dysplasia.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4867846

Congenital disorders of glycosylation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4867846

Quality control of glycoproteins bearing truncated glycans in an ALG9-defective (CDG-IL) patient

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4867846

Identification and functional analysis of a defect in the human ALG9 gene: definition of congenital disorder of glycosylation type IL.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4867846

A lethal osteochondrodysplasia with mesomelic brachymelia, round pelvis, and congenital hepatic fibrosis: two siblings born to consanguineous parents

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4867846

New autosomal recessive lethal disorder with polycystic kidneys type Potter I, characteristic face, microcephaly, brachymelia, and congenital heart defects

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4867846

Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4867846

Paediatric age-dependent serum transferrin isoform distribution studied by HPLC.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4867846

Congenital disorder of glycosylation type Ia presenting with hydrops fetalis

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4867846

CDG-IL: an infant with a novel mutation in the ALG9 gene and additional phenotypic features.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4867846

ALG3-CDG: Report of two siblings with antenatal features carrying homozygous p.Gly96Arg mutation

4 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26453364

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/8904_2015_504

1 reference

17 August 2017

1 reference

17 August 2017

1 reference