(Q24538812)

6 July 2017

title

Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1A (English)

1 reference

6 July 2017

Matthijs G

1

1 reference

6 July 2017

Schollen E

2

1 reference

6 July 2017

Van Schaftingen E

3

1 reference

6 July 2017

Cassiman JJ

4

1 reference

6 July 2017

Jaeken J

5

1 reference

6 July 2017

language of work or name

English

0 references

publication date

1 March 1998

1 reference

American Journal of Human Genetics

6 July 2017

published in

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6 July 2017

volume

62

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6 July 2017

issue

3

1 reference

6 July 2017

page(s)

542-550

1 reference

Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome)

6 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376957

Mutations in the MGAT2 gene controlling complex N-glycan synthesis cause carbohydrate-deficient glycoprotein syndrome type II, an autosomal recessive disease with defective brain development

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376957

PMM (PMM1), the human homologue of SEC53 or yeast phosphomannomutase, is localized on chromosome 22q13

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376957

Comparative analysis of the phosphomannomutase genes PMM1, PMM2 and PMM2psi: the sequence variation in the processed pseudogene is a reflection of the mutations found in the functional gene

24 March 2017

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376957

24 March 2017

https://api.crossref.org/works/10.1086%2F301763

7 January 2021

inferred from DOI database lookup

Carbohydrate-deficient glycoprotein syndrome--a fourth subtype

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376957

Linkage of a locus for carbohydrate-deficient glycoprotein syndrome type I (CDG1) to chromosome 16p, and linkage disequilibrium to microsatellite marker D16S406

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376957

Comparison of PMM1 with the phosphomannomutases expressed in rat liver and in human cells

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376957

Carbohydrate-deficient glycoconjugate (CDG) syndromes: a new chapter of neuropaediatrics

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376957

Carbohydrate deficient glycoprotein (CDG) syndrome type I

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376957

Normal pubertal development in a female with carbohydrate deficient glycoprotein syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376957

The carbohydrate-deficient glycoprotein syndromes: an overview

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376957

Carbohydrate deficient glycoprotein syndrome type II: a deficiency in Golgi localised N-acetyl-glucosaminyltransferase II.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376957

Microsatellite haplotypes for cystic fibrosis: mutation frameworks and evolutionary tracers.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376957

Carbohydrate-deficient glycoprotein (CDG) syndrome--a new variant, type III.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376957

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376957

Structure of serum transferrin in carbohydrate-deficient glycoprotein syndrome

30 May 2018

1 reference

12 December 2020

Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type I

1 reference

12 December 2020

Evidence for Genetic Heterogeneity in the Carbohydrate-Deficient Glycoprotein Syndrome Type I (CDG1)

1 reference

12 December 2020

Congenital nephrotic syndrome: a novel phenotype of type I carbohydrate-deficient glycoprotein syndrome

1 reference

12 December 2020

Fine mapping of the gene for carbohydrate-deficient glycoprotein syndrome, type I (CDG1): linkage disequilibrium and founder effect in Scandinavian families

1 reference

12 December 2020

Phosphomannomutase deficiency is the main cause of carbohydrate-deficient glycoprotein syndrome with type I isoelectrofocusing pattern of serum sialotransferrins

1 reference

12 December 2020

Prenatal diagnosis in CDG1 families: beware of heterogeneity

1 reference

Crossref

https://api.crossref.org/works/10.1086%2F301763

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1086/301763

1 reference

OpenCitations bibliographic resource ID

6 July 2017

4912877

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

6 July 2017

1 reference