Neonatal screening: identification of children with 11β-hydroxylase deficiency by second-tier testing

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Location: Deutsche Nationalbibliothek Frankfurt am Main

Extent: Online-Ressource

Language: Englisch

Bibliographic citation: In: Horm Res Paediatr 2012;77:195–199

Event: Veröffentlichung

(where): Kiel

(who): Universitätsbibliothek Kiel

(when): 2012

Creator: Janzen, Nils
Riepe, Felix Günther
Peter, Michael
Sander, Stefanie
Steuerwald, Ulrike
Korsch, Eckhard
Krull, Friedrich
Müller, Hermann L.
Heger, Sabine
Brack, Christoph
Sander, Johannes

DOI: 10.1159/000337974

URN: urn:nbn:de:gbv:8-mods-2020-00560-0

Rights: Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 14.08.2025, 11:00 AM CEST

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Associated

Janzen, Nils
Riepe, Felix Günther
Peter, Michael
Sander, Stefanie
Steuerwald, Ulrike
Korsch, Eckhard
Krull, Friedrich
Müller, Hermann L.
Heger, Sabine
Brack, Christoph
Sander, Johannes
Universitätsbibliothek Kiel

Time of origin

2012

Other Objects (12)

Targeted long-read sequencing identifies missing pathogenic variant in unsolved 11β-hydroxylase deficiency

Hochschulschrift

Hemmung der adrenalen 17α-Hydroxylase, 16α-Hydroxylase, 11β-Hydroxylase und 18-Hydroxylase beim Menschen durch Ketoconazol

Dopamine beta-hydroxylase deficiency

Hochschulschrift

Der Einfluss von Ketoconazol auf die 11β-Hydroxylase- [Beta-Hydroxylase-] und 18-Hydroxylase-Aktivität [Hydroxylase-Aktivität] menschlicher Nebennieren

Splicing analysis of CYP11B1 mutation in a family affected with 11β-hydroxylase deficiency: case report

Non-classical 11β-hydroxylase deficiency caused by compound heterozygous mutations: a case study and literature review

A Chinese patient with 11β-hydroxylase deficiency due to novel compound heterozygous mutation in CYP11B1 gene: a case report

An unusual presentation of tyrosine hydroxylase deficiency

Hochschulschrift

Untersuchung von künstlichen und natürlichen Mutationen in den Genen der humanen 11β-Hydroxylase [11-Beta-Hydroxylase] und Aldosteronsynthase

POR polymorphisms are associated with 21 hydroxylase deficiency

Hochschulschrift

Der Cortisolsynthese-Inhibitor Metyrapon, ein Inhibitor der 11β-Hydroxylase [11-Beta-Hydroxylase] (EC 1.14.15.4) und der 11β-HSD-1 [11-Beta-HSD-1] (EC 1.1.1.146), in der Behandlung der Major-Depression

Prenatal and neonatal testing

Targeted long-read sequencing identifies missing pathogenic variant in unsolved 11β-hydroxylase deficiency

Hochschulschrift

Hemmung der adrenalen 17α-Hydroxylase, 16α-Hydroxylase, 11β-Hydroxylase und 18-Hydroxylase beim Menschen durch Ketoconazol

Dopamine beta-hydroxylase deficiency

Hochschulschrift

Der Einfluss von Ketoconazol auf die 11β-Hydroxylase- [Beta-Hydroxylase-] und 18-Hydroxylase-Aktivität [Hydroxylase-Aktivität] menschlicher Nebennieren

Splicing analysis of CYP11B1 mutation in a family affected with 11β-hydroxylase deficiency: case report

Non-classical 11β-hydroxylase deficiency caused by compound heterozygous mutations: a case study and literature review

A Chinese patient with 11β-hydroxylase deficiency due to novel compound heterozygous mutation in CYP11B1 gene: a case report

An unusual presentation of tyrosine hydroxylase deficiency

Hochschulschrift

Untersuchung von künstlichen und natürlichen Mutationen in den Genen der humanen 11β-Hydroxylase [11-Beta-Hydroxylase] und Aldosteronsynthase

POR polymorphisms are associated with 21 hydroxylase deficiency

Hochschulschrift

Der Cortisolsynthese-Inhibitor Metyrapon, ein Inhibitor der 11β-Hydroxylase [11-Beta-Hydroxylase] (EC 1.14.15.4) und der 11β-HSD-1 [11-Beta-HSD-1] (EC 1.1.1.146), in der Behandlung der Major-Depression

Prenatal and neonatal testing

Targeted long-read sequencing identifies missing pathogenic variant in unsolved 11β-hydroxylase deficiency

Hochschulschrift

Hemmung der adrenalen 17α-Hydroxylase, 16α-Hydroxylase, 11β-Hydroxylase und 18-Hydroxylase beim Menschen durch Ketoconazol

Dopamine beta-hydroxylase deficiency

Hochschulschrift

Der Einfluss von Ketoconazol auf die 11β-Hydroxylase- [Beta-Hydroxylase-] und 18-Hydroxylase-Aktivität [Hydroxylase-Aktivität] menschlicher Nebennieren

Splicing analysis of CYP11B1 mutation in a family affected with 11β-hydroxylase deficiency: case report

Non-classical 11β-hydroxylase deficiency caused by compound heterozygous mutations: a case study and literature review

A Chinese patient with 11β-hydroxylase deficiency due to novel compound heterozygous mutation in CYP11B1 gene: a case report

An unusual presentation of tyrosine hydroxylase deficiency

Hochschulschrift

Untersuchung von künstlichen und natürlichen Mutationen in den Genen der humanen 11β-Hydroxylase [11-Beta-Hydroxylase] und Aldosteronsynthase

POR polymorphisms are associated with 21 hydroxylase deficiency

Hochschulschrift

Der Cortisolsynthese-Inhibitor Metyrapon, ein Inhibitor der 11β-Hydroxylase [11-Beta-Hydroxylase] (EC 1.14.15.4) und der 11β-HSD-1 [11-Beta-HSD-1] (EC 1.1.1.146), in der Behandlung der Major-Depression

Prenatal and neonatal testing

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Neonatal screening: identification of children with 11β-hydroxylase deficiency by second-tier testing

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Other Objects (12)

Targeted long-read sequencing identifies missing pathogenic variant in unsolved 11β-hydroxylase deficiency

Hemmung der adrenalen 17α-Hydroxylase, 16α-Hydroxylase, 11β-Hydroxylase und 18-Hydroxylase beim Menschen durch Ketoconazol

Dopamine beta-hydroxylase deficiency

Der Einfluss von Ketoconazol auf die 11β-Hydroxylase- [Beta-Hydroxylase-] und 18-Hydroxylase-Aktivität [Hydroxylase-Aktivität] menschlicher Nebennieren

Splicing analysis of CYP11B1 mutation in a family affected with 11β-hydroxylase deficiency: case report

Non-classical 11β-hydroxylase deficiency caused by compound heterozygous mutations: a case study and literature review

A Chinese patient with 11β-hydroxylase deficiency due to novel compound heterozygous mutation in CYP11B1 gene: a case report

An unusual presentation of tyrosine hydroxylase deficiency

Untersuchung von künstlichen und natürlichen Mutationen in den Genen der humanen 11β-Hydroxylase [11-Beta-Hydroxylase] und Aldosteronsynthase

POR polymorphisms are associated with 21 hydroxylase deficiency

Der Cortisolsynthese-Inhibitor Metyrapon, ein Inhibitor der 11β-Hydroxylase [11-Beta-Hydroxylase] (EC 1.14.15.4) und der 11β-HSD-1 [11-Beta-HSD-1] (EC 1.1.1.146), in der Behandlung der Major-Depression

Prenatal and neonatal testing

Targeted long-read sequencing identifies missing pathogenic variant in unsolved 11β-hydroxylase deficiency

Hemmung der adrenalen 17α-Hydroxylase, 16α-Hydroxylase, 11β-Hydroxylase und 18-Hydroxylase beim Menschen durch Ketoconazol

Dopamine beta-hydroxylase deficiency

Der Einfluss von Ketoconazol auf die 11β-Hydroxylase- [Beta-Hydroxylase-] und 18-Hydroxylase-Aktivität [Hydroxylase-Aktivität] menschlicher Nebennieren

Splicing analysis of CYP11B1 mutation in a family affected with 11β-hydroxylase deficiency: case report

Non-classical 11β-hydroxylase deficiency caused by compound heterozygous mutations: a case study and literature review

A Chinese patient with 11β-hydroxylase deficiency due to novel compound heterozygous mutation in CYP11B1 gene: a case report

An unusual presentation of tyrosine hydroxylase deficiency

Untersuchung von künstlichen und natürlichen Mutationen in den Genen der humanen 11β-Hydroxylase [11-Beta-Hydroxylase] und Aldosteronsynthase

POR polymorphisms are associated with 21 hydroxylase deficiency

Der Cortisolsynthese-Inhibitor Metyrapon, ein Inhibitor der 11β-Hydroxylase [11-Beta-Hydroxylase] (EC 1.14.15.4) und der 11β-HSD-1 [11-Beta-HSD-1] (EC 1.1.1.146), in der Behandlung der Major-Depression

Prenatal and neonatal testing

Targeted long-read sequencing identifies missing pathogenic variant in unsolved 11β-hydroxylase deficiency

Hemmung der adrenalen 17α-Hydroxylase, 16α-Hydroxylase, 11β-Hydroxylase und 18-Hydroxylase beim Menschen durch Ketoconazol

Dopamine beta-hydroxylase deficiency

Der Einfluss von Ketoconazol auf die 11β-Hydroxylase- [Beta-Hydroxylase-] und 18-Hydroxylase-Aktivität [Hydroxylase-Aktivität] menschlicher Nebennieren

Splicing analysis of CYP11B1 mutation in a family affected with 11β-hydroxylase deficiency: case report

Non-classical 11β-hydroxylase deficiency caused by compound heterozygous mutations: a case study and literature review

A Chinese patient with 11β-hydroxylase deficiency due to novel compound heterozygous mutation in CYP11B1 gene: a case report

An unusual presentation of tyrosine hydroxylase deficiency

Untersuchung von künstlichen und natürlichen Mutationen in den Genen der humanen 11β-Hydroxylase [11-Beta-Hydroxylase] und Aldosteronsynthase

POR polymorphisms are associated with 21 hydroxylase deficiency

Der Cortisolsynthese-Inhibitor Metyrapon, ein Inhibitor der 11β-Hydroxylase [11-Beta-Hydroxylase] (EC 1.14.15.4) und der 11β-HSD-1 [11-Beta-HSD-1] (EC 1.1.1.146), in der Behandlung der Major-Depression

Prenatal and neonatal testing

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