(Q28268697)

Wiebke Arlt

1

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Cedric H L Shackleton

12

Cedric H L Shackleton

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Nicole Draper

3

Nicole Draper

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Berthold P Hauffa

9

Berthold P Hauffa

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Jon P Ride

5

Jon P Ride

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Hannah E Ivison

4

Hannah E Ivison

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Susan M Chalder

7

Susan M Chalder

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author name string

Elizabeth A Walker

2

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Fabian Hammer

6

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Maria Borucka-Mankiewicz

8

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Ewa M Malunowicz

Male Pseudohermaphroditism Due to Multiple Defects in Steroid-Biosynthetic Microsomal Mixed-Function Oxidases

10

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language of work or name

English

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publication date

26 June 2004

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published in

The Lancet

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volume

363

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issue

9427

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page(s)

2128-35

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cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2804%2916503-3

7 January 2021

Evidence for digenic inheritance in some cases of Antley-Bixler syndrome?

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2804%2916503-3

7 January 2021

Apparent pregnene hydroxylation deficiency (APHD): seeking the parentage of an orphan metabolome

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2804%2916503-3

7 January 2021

A male patient presenting with major clinical symptoms of glucocorticoid deficiency and skeletal dysplasia, showing a steroid pattern compatible with 17alpha-hydroxylase/17,20-lyase deficiency, but without obvious CYP17 gene mutations.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2804%2916503-3

7 January 2021

https://api.crossref.org/works/10.1016%2FS0140-6736%2804%2916503-3

1 reference

7 January 2021

Mass spectrometry in the diagnosis of steroid-related disorders and in hypertension research

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2804%2916503-3

7 January 2021

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/10.1016%2FS0140-6736%2804%2916503-3

7 January 2021

Molecular analysis of Japanese patients with steroid 21-hydroxylase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2804%2916503-3

7 January 2021

Who is a carrier? Detection of unsuspected mutations in 21-hydroxylase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2804%2916503-3

7 January 2021

Cytochrome b5 augments the 17,20-lyase activity of human P450c17 without direct electron transfer

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2804%2916503-3

7 January 2021

Functional expression, characterization, and purification of the catalytic domain of human 11-beta -hydroxysteroid dehydrogenase type 1.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2804%2916503-3

7 January 2021

Dissection of NADPH-cytochrome P450 oxidoreductase into distinct functional domains

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2804%2916503-3

7 January 2021

Activities and kinetic mechanisms of native and soluble NADPH-cytochrome P450 reductase

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2804%2916503-3

7 January 2021

Three-dimensional structure of NADPH-cytochrome P450 reductase: prototype for FMN- and FAD-containing enzymes

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2804%2916503-3

7 January 2021

Differential contributions of NADPH-cytochrome P450 oxidoreductase FAD binding site residues to flavin binding and catalysis

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2804%2916503-3

7 January 2021

5alpha-androstane-3alpha,17beta-diol is formed in tammar wallaby pouch young testes by a pathway involving 5alpha-pregnane-3alpha,17alpha-diol-20-one as a key intermediate

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2804%2916503-3

7 January 2021

5α-reduced C21 steroids are substrates for human cytochrome P450c17

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2804%2916503-3

7 January 2021

Effect of testosterone and estradiol in a man with aromatase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2804%2916503-3

7 January 2021

Impact of estrogen replacement therapy in a male with congenital aromatase deficiency caused by a novel mutation in the CYP19 gene

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2804%2916503-3

7 January 2021

Features of Antley-Bixler syndrome in an infant born to a mother with pregnancy luteoma

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2804%2916503-3

7 January 2021

Abnormal sterol metabolism in a patient with Antley-Bixler syndrome and ambiguous genitalia

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2804%2916503-3

7 January 2021

Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2804%2916503-3

7 January 2021

FGFR2 mutation associated with clinical manifestations consistent with Antley-Bixler syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2804%2916503-3

7 January 2021

Further evidence that fibroblast growth factor receptor 2 mutations cause Antley-Bixler syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2804%2916503-3

7 January 2021

Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2804%2916503-3

7 January 2021

Association of multiple developmental defects and embryonic lethality with loss of microsomal NADPH-cytochrome P450 oxidoreductase

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2804%2916503-3

7 January 2021

Identification of novel roles of the cytochrome p450 system in early embryogenesis: effects on vasculogenesis and retinoic Acid homeostasis

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2804%2916503-3

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2804%2916503-3

7 January 2021

Mutations in the genes encoding 11beta-hydroxysteroid dehydrogenase type 1 and hexose-6-phosphate dehydrogenase interact to cause cortisone reductase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2804%2916503-3

7 January 2021

10.1016/S0140-6736(04)16503-3

Identifiers

DOI

1 reference

Consolidated OpenCitations Corpus – April 2017

1 reference

Consolidated OpenCitations Corpus – April 2017

PubMed publication ID

15220035

1 reference

Consolidated OpenCitations Corpus – April 2017