Pubertal development in ALG6 deficiency (congenital disorder of glycosylation type Ic) (Q37406541)

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scientific article published on 03 February 2011

Language	Label	Description	Also known as
English	Pubertal development in ALG6 deficiency (congenital disorder of glycosylation type Ic)	scientific article published on 03 February 2011

Statements

scholarly article

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

Pubertal development in ALG6 deficiency (congenital disorder of glycosylation type Ic) (English)

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

congenital disorder

0 references

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

object named as

Bradley S Miller

1

0 references

Hudson H. Freeze

object named as

Hudson H Freeze

2

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author name string

Georg F Hoffmann

3

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

Kyriakie Sarafoglou

4

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

publication date

3 February 2011

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

Molecular Genetics and Metabolism

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

103

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

1

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

101-103

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

Variable phenotypes associated with aromatase (CYP19) insufficiency in humans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3869397

6 September 2017

Identification of a frequent variant inALG6, the cause of Congenital Disorder of Glycosylation-Ic

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3869397

6 September 2017

New disorders in carbohydrate metabolism: congenital disorders of glycosylation and their impact on the endocrine system

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3869397

6 September 2017

Clinical features of primary ovarian failure caused by a point mutation in the follicle-stimulating hormone receptor gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3869397

6 September 2017

Carbohydrate-deficient glycoprotein syndrome: clinical expression in adults with a new metabolic disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3869397

6 September 2017

Aromatase cytochrome P450, the enzyme responsible for estrogen biosynthesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3869397

6 September 2017

The six N-linked carbohydrates of the lutropin/choriogonadotropin receptor are not absolutely required for correct folding, cell surface expression, hormone binding, or signal transduction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3869397

28 September 2017

IGF system in children with congenital disorders of glycosylation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3869397

2 September 2018

Association of aromatase (CYP 19) gene variation with features of hyperandrogenism in two populations of young women.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3869397

2 September 2018

Structural and functional differences among purified recombinant mammalian aromatases: glycosylation, N-terminal sequence and kinetic analysis of human, bovine and the porcine placental and gonadal isozymes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3869397

2 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3869397

2 September 2018

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.01.016

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.01.016

7 January 2021

Clinical features of primary ovarian failure caused by a point mutation in the follicle-stimulating hormone receptor gene

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.01.016

7 January 2021

Congenital disorder of glycosylation Ia with deficient phosphomannomutase activity but normal plasma glycoprotein pattern

1 reference

https://pubmed.ncbi.nlm.nih.gov/21334936

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1016/J.YMGME.2011.01.016

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

20 August 2017

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