(Q48232076)

English

Congenital disorder of glycosylation type 1a in a macrosomic 16-month-old boy with an atypical phenotype and homozygosity of the N216I mutation

scientific article published on 2 August 2003

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

9 February 2018

http://europepmc.org/abstract/MED/12905014

Congenital disorder of glycosylation type 1a in a macrosomic 16-month-old boy with an atypical phenotype and homozygosity of the N216I mutation (English)

1 reference

Europe PubMed Central

PubMed publication ID

9 February 2018

http://europepmc.org/abstract/MED/12905014

1 reference

based on heuristic

inferred from title

congenital disorder

1 reference

based on heuristic

inferred from title

congenital disorder

1 reference

based on heuristic

inferred from title

congenital disorder of glycosylation

1 reference

based on heuristic

inferred from title

author name string

Luitgard M Neumann

1

1 reference

Europe PubMed Central

PubMed publication ID

9 February 2018

http://europepmc.org/abstract/MED/12905014

Arpad von Moers

2

1 reference

Europe PubMed Central

PubMed publication ID

9 February 2018

http://europepmc.org/abstract/MED/12905014

Jürgen Kunze

3

1 reference

Europe PubMed Central

PubMed publication ID

9 February 2018

http://europepmc.org/abstract/MED/12905014

Oliver Blankenstein

4

1 reference

Europe PubMed Central

PubMed publication ID

9 February 2018

http://europepmc.org/abstract/MED/12905014

Thorsten Marquardt

5

1 reference

Europe PubMed Central

PubMed publication ID

9 February 2018

http://europepmc.org/abstract/MED/12905014

publication date

2 August 2003

1 reference

Europe PubMed Central

PubMed publication ID

9 February 2018

http://europepmc.org/abstract/MED/12905014

European Journal of Pediatrics

1 reference

Europe PubMed Central

PubMed publication ID

9 February 2018

http://europepmc.org/abstract/MED/12905014

162

1 reference

Europe PubMed Central

PubMed publication ID

9 February 2018

http://europepmc.org/abstract/MED/12905014

10

1 reference

Europe PubMed Central

PubMed publication ID

9 February 2018

http://europepmc.org/abstract/MED/12905014

710-713

1 reference

Europe PubMed Central

PubMed publication ID

9 February 2018

http://europepmc.org/abstract/MED/12905014

Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia)

1 reference

https://pubmed.ncbi.nlm.nih.gov/12905014

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Congenital disorders of glycosylation: review of their molecular bases, clinical presentations and specific therapies

1 reference

https://pubmed.ncbi.nlm.nih.gov/12905014

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prepubertal growth in congenital disorder of glycosylation type Ia (CDG-Ia)

1 reference

https://pubmed.ncbi.nlm.nih.gov/12905014

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical and molecular features of congenital disorder of glycosylation in patients with type 1 sialotransferrin pattern and diverse ethnic origins.

1 reference

https://pubmed.ncbi.nlm.nih.gov/12905014

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Thyroid function tests and characterization of thyroxine-binding globulin in the carbohydrate-deficient glycoprotein syndrome type I

1 reference

https://pubmed.ncbi.nlm.nih.gov/12905014

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The carbohydrate-deficient glycoprotein syndrome. A new inherited multisystemic disease with severe nervous system involvement

1 reference

https://pubmed.ncbi.nlm.nih.gov/12905014

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Scandinavian CDG-Ia patients: genotype/phenotype correlation and geographic origin of founder mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/12905014

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Severe transient myocardial ischaemia caused by hypertrophic cardiomyopathy in a patient with congenital disorder of glycosylation type Ia

1 reference

https://pubmed.ncbi.nlm.nih.gov/12905014

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Congenital disorders of glycosylation: a review

1 reference

https://pubmed.ncbi.nlm.nih.gov/12905014

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/12905014

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Endocrinology of the Carbohydrate-Deficient Glycoprotein Syndrome Type 1 from Birth through Adolescence

1 reference

https://pubmed.ncbi.nlm.nih.gov/12905014

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S00431-003-1278-8

1 reference

Europe PubMed Central

PubMed publication ID

9 February 2018

http://europepmc.org/abstract/MED/12905014

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

9 February 2018

http://europepmc.org/abstract/MED/12905014

ResearchGate publication ID

0 references

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q48232076&oldid=2209237255"