(Q36492697)

14 August 2017

Primary ∆4-3-oxosteroid 5β-reductase deficiency: two cases in China (English)

1 reference

14 August 2017

Jian-She Wang

6

0 references

author name string

Jing Zhao

1

1 reference

14 August 2017

Ling-Juan Fang

2

1 reference

14 August 2017

Kenneth D R Setchell

3

1 reference

14 August 2017

Rui Chen

4

1 reference

14 August 2017

Li-Ting Li

5

1 reference

14 August 2017

language of work or name

English

0 references

publication date

1 December 2012

1 reference

World Journal of Gastroenterology

14 August 2017

1 reference

14 August 2017

18

1 reference

14 August 2017

47

1 reference

14 August 2017

7113-7117

1 reference

Disorders of bile acid synthesis

14 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3531703

Characterization of disease-related 5beta-reductase (AKR1D1) mutations reveals their potential to cause bile acid deficiency

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3531703

Mechanisms of disease: Inborn errors of bile acid synthesis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3531703

Defects in bile acid biosynthesis--diagnosis and treatment

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3531703

Mutations in SRD5B1 (AKR1D1), the gene encoding delta(4)-3-oxosteroid 5beta-reductase, in hepatitis and liver failure in infancy.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3531703

Delta 4-3-oxosteroid 5 beta-reductase deficiency described in identical twins with neonatal hepatitis. A new inborn error in bile acid synthesis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3531703

Oral cholic acid for hereditary defects of primary bile acid synthesis: a safe and effective long-term therapy.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3531703

SRD5B1 gene analysis needed for the accurate diagnosis of primary 3-oxo-Delta4-steroid 5beta-reductase deficiency

21 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3531703

Gene analysis in delta 4-3-oxosteroid 5 beta-reductase deficiency

21 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23323017

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.3748/WJG.V18.I47.7113

1 reference

14 August 2017

1 reference

14 August 2017

PubMed publication ID

23323017

1 reference