(Q42749580)

English

Distinctive profile of the 17-hydroxylase and 17,20-lyase activities revealed by urinary steroid metabolomes of patients with CYP17 deficiency

scientific article published on December 2010

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

6 November 2017

Distinctive profile of the 17-hydroxylase and 17,20-lyase activities revealed by urinary steroid metabolomes of patients with CYP17 deficiency (English)

1 reference

Europe PubMed Central

PubMed publication ID

6 November 2017

author name string

Marcos S Neres

1

1 reference

Europe PubMed Central

PubMed publication ID

6 November 2017

Richard J Auchus

2

1 reference

Europe PubMed Central

PubMed publication ID

6 November 2017

Cedric H L Shackleton

3

1 reference

Europe PubMed Central

PubMed publication ID

6 November 2017

Claudio E Kater

4

1 reference

Europe PubMed Central

PubMed publication ID

6 November 2017

publication date

1 December 2010

1 reference

Europe PubMed Central

PubMed publication ID

6 November 2017

Arquivos Brasileiros de Endocrinologia e Metabologia

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Europe PubMed Central

PubMed publication ID

6 November 2017

54

1 reference

Europe PubMed Central

PubMed publication ID

6 November 2017

9

1 reference

Europe PubMed Central

PubMed publication ID

6 November 2017

826-832

1 reference

Europe PubMed Central

PubMed publication ID

6 November 2017

Two prevalent CYP17 mutations and genotype-phenotype correlations in 24 Brazilian patients with 17-hydroxylase deficiency

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302010000900009

21 January 2018

Steroid 17alpha-hydroxylase deficiency--not rare everywhere.

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302010000900009

21 January 2018

Combined 17-hydroxylase and 17,20-desmolase deficiencies: evidence for synthesis of a defective cytochrome P450c17.

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302010000900009

21 January 2018

The genetics, pathophysiology, and management of human deficiencies of P450c17.

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302010000900009

21 January 2018

Differential inhibition of 17alpha-hydroxylase and 17,20-lyase activities by three novel missense CYP17 mutations identified in patients with P450c17 deficiency

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302010000900009

21 January 2018

Two intronic mutations cause 17-hydroxylase deficiency by disrupting splice acceptor sites: direct demonstration of aberrant splicing and absent enzyme activity by expression of the entire CYP17 gene in HEK-293 cells

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302010000900009

21 January 2018

17alpha-hydroxylase/17,20-lyase deficiency caused by a novel homozygous mutation (Y27Stop) in the cytochrome CYP17 gene

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302010000900009

21 January 2018

The genetic and functional basis of isolated 17,20-lyase deficiency

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302010000900009

21 January 2018

The regulation of 17,20 lyase activity

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302010000900009

21 January 2018

17-hydroxylation deficiency in man

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302010000900009

21 January 2018

17 alpha-hydroxylase/17,20-lyase deficiency: from clinical investigation to molecular definition

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302010000900009

21 January 2018

Subtle 17alpha-hydroxylase/17,20-lyase deficiency with homozygous Y201N mutation in an infertile woman

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302010000900009

21 January 2018

Phenotype-genotype correlation in eight Chinese 17alpha-hydroxylase/17,20 lyase-deficiency patients with five novel mutations of CYP17A1 gene.

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302010000900009

21 January 2018

P450c17 deficiency: clinical and molecular characterization of six patients.

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302010000900009

21 January 2018

Metabolic evidence for impaired 17alpha-hydroxylase activity in a kindred bearing the E305G mutation for isolate 17,20-lyase activity

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302010000900009

21 January 2018

The diagnosis of congenital adrenal hyperplasia in the newborn by gas chromatography/mass spectrometry analysis of random urine specimens

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302010000900009

21 January 2018

P450c17 deficiency in Brazilian patients: biochemical diagnosis through progesterone levels confirmed by CYP17 genotyping

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302010000900009

21 January 2018

CYP17 Mutation E305G Causes Isolated 17,20-Lyase Deficiency by Selectively Altering Substrate Binding

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302010000900009

21 January 2018

Homozygous mutation G539R in the gene for P450 oxidoreductase in a family previously diagnosed as having 17,20-lyase deficiency.

1 reference

https://api.crossref.org/works/10.1590%2FS0004-27302010000900009

21 January 2018

Identifiers

10.1590/S0004-27302010000900009

1 reference

Europe PubMed Central

PubMed publication ID

6 November 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

6 November 2017

ResearchGate publication ID

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