(Q46801877)

English

A case of 11beta-hydroxylase deficiency detected in a newborn screening program by second-tier LC-MS/MS.

scientific article

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

25 December 2017

http://europepmc.org/abstract/MED/18204274

A case of 11beta-hydroxylase deficiency detected in a newborn screening program by second-tier LC-MS/MS. (English)

1 reference

Europe PubMed Central

PubMed publication ID

25 December 2017

http://europepmc.org/abstract/MED/18204274

author name string

M Peter

1

1 reference

Europe PubMed Central

PubMed publication ID

25 December 2017

http://europepmc.org/abstract/MED/18204274

N Janzen

2

1 reference

Europe PubMed Central

PubMed publication ID

25 December 2017

http://europepmc.org/abstract/MED/18204274

S Sander

3

1 reference

Europe PubMed Central

PubMed publication ID

25 December 2017

http://europepmc.org/abstract/MED/18204274

E Korsch

4

1 reference

Europe PubMed Central

PubMed publication ID

25 December 2017

http://europepmc.org/abstract/MED/18204274

F G Riepe

5

1 reference

Europe PubMed Central

PubMed publication ID

25 December 2017

http://europepmc.org/abstract/MED/18204274

J Sander

6

1 reference

Europe PubMed Central

PubMed publication ID

25 December 2017

http://europepmc.org/abstract/MED/18204274

publication date

21 January 2008

1 reference

Europe PubMed Central

PubMed publication ID

25 December 2017

http://europepmc.org/abstract/MED/18204274

Hormone Research

1 reference

Europe PubMed Central

PubMed publication ID

25 December 2017

http://europepmc.org/abstract/MED/18204274

69

1 reference

Europe PubMed Central

PubMed publication ID

25 December 2017

http://europepmc.org/abstract/MED/18204274

4

1 reference

Europe PubMed Central

PubMed publication ID

25 December 2017

http://europepmc.org/abstract/MED/18204274

253-256

1 reference

Europe PubMed Central

PubMed publication ID

25 December 2017

http://europepmc.org/abstract/MED/18204274

Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

1 reference

https://api.crossref.org/works/10.1159%2F000113027

21 January 2018

Disorders of steroid 11 beta-hydroxylase isozymes

1 reference

https://api.crossref.org/works/10.1159%2F000113027

21 January 2018

Mutations in the CYP11B1 gene causing congenital adrenal hyperplasia and hypertension cluster in exons 6, 7, and 8

1 reference

https://api.crossref.org/works/10.1159%2F000113027

21 January 2018

Unequal Crossing-Over between Aldosterone Synthase and 11 -Hydroxylase Genes Causes Congenital Adrenal Hyperplasia

1 reference

https://api.crossref.org/works/10.1159%2F000113027

21 January 2018

Congenital adrenal hyperplasia due to 11-hydroxylase deficiency: functional characterization of two novel point mutations and a three-base pair deletion in the CYP11B1 gene

1 reference

https://api.crossref.org/works/10.1159%2F000113027

21 January 2018

Steroid 11-beta-hydroxylase deficiency caused by compound heterozygosity for a novel mutation, p.G314R, in one CYP11B1 allele, and a chimeric CYP11B2/CYP11B1 in the other allele.

1 reference

https://api.crossref.org/works/10.1159%2F000113027

21 January 2018

Improving neonatal screening for congenital adrenal hyperplasia

1 reference

https://api.crossref.org/works/10.1159%2F000113027

21 January 2018

Identifiers

10.1159/000113027

1 reference

Europe PubMed Central

PubMed publication ID

25 December 2017

http://europepmc.org/abstract/MED/18204274

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

25 December 2017

http://europepmc.org/abstract/MED/18204274

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