(Q37406541)

20 August 2017

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

1 reference

congenital disorder of glycosylation

20 August 2017

0 references

1 reference

1 reference

1 reference

Bradley S Miller

1

0 references

Hudson H. Freeze

object named as

Hudson H Freeze

series ordinal

2

0 references

author name string

Georg F Hoffmann

series ordinal

3

1 reference

PMCID

3869397

20 August 2017

Kyriakie Sarafoglou

series ordinal

4

1 reference

20 August 2017

3 February 2011

1 reference

Molecular Genetics and Metabolism

20 August 2017

1 reference

20 August 2017

103

1 reference

20 August 2017

1

1 reference

20 August 2017

101-103

1 reference

Variable phenotypes associated with aromatase (CYP19) insufficiency in humans

20 August 2017

1 reference

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

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

6 September 2017

1 reference

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

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

6 September 2017

1 reference

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

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

6 September 2017

1 reference

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

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

6 September 2017

1 reference

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

Aromatase cytochrome P450, the enzyme responsible for estrogen biosynthesis

6 September 2017

1 reference

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

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

6 September 2017

1 reference

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

IGF system in children with congenital disorders of glycosylation.

28 September 2017

1 reference

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

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

2 September 2018

1 reference

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

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

2 September 2018

1 reference

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

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

2 September 2018

1 reference

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

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

2 September 2018

1 reference

Crossref

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

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

7 January 2021

1 reference

Crossref

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

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

7 January 2021

1 reference

Crossref

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

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

7 January 2021

1 reference

PubMed

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

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.YMGME.2011.01.016

1 reference

20 August 2017

1 reference

20 August 2017

1 reference

PMCID

3869397