Diagnosis of the first japanese patient with 3-oxo-Δ-steroid 5β- reductase deficiency by use of immunoblot analysis
European Journal of Pediatrics, ISSN: 0340-6199, Vol: 157, Issue: 5, Page: 386-390
1998
- 15Citations
- 6Captures
Metric Options: CountsSelecting the 1-year or 3-year option will change the metrics count to percentiles, illustrating how an article or review compares to other articles or reviews within the selected time period in the same journal. Selecting the 1-year option compares the metrics against other articles/reviews that were also published in the same calendar year. Selecting the 3-year option compares the metrics against other articles/reviews that were also published in the same calendar year plus the two years prior.
Example: if you select the 1-year option for an article published in 2019 and a metric category shows 90%, that means that the article or review is performing better than 90% of the other articles/reviews published in that journal in 2019. If you select the 3-year option for the same article published in 2019 and the metric category shows 90%, that means that the article or review is performing better than 90% of the other articles/reviews published in that journal in 2019, 2018 and 2017.
Citation Benchmarking is provided by Scopus and SciVal and is different from the metrics context provided by PlumX Metrics.
Example: if you select the 1-year option for an article published in 2019 and a metric category shows 90%, that means that the article or review is performing better than 90% of the other articles/reviews published in that journal in 2019. If you select the 3-year option for the same article published in 2019 and the metric category shows 90%, that means that the article or review is performing better than 90% of the other articles/reviews published in that journal in 2019, 2018 and 2017.
Citation Benchmarking is provided by Scopus and SciVal and is different from the metrics context provided by PlumX Metrics.
Metrics Details
- Citations15
- Citation Indexes15
- 15
- CrossRef11
- Captures6
- Readers6
Article Description
A 3-oxo-Δ-steroid 5β-reductase (5β-reductase) deficiency is difficult to diagnose because severe liver damage can result in a similar pattern of metabolite excretion. We investigated the usefulness of immunoblot analysis for diagnosis of 5β-reductase deficiency and quantitatively analysed urinary bile acids by gas chromatography-mass spectrometry in a 5- month-old Japanese boy with severe neonatal cholestasis associated with hypertyrosinaemia. A liver sample was examined by immunoblot analysis using monoclonal antibodies against 5β-reductase. Urinary 3-OXO-Δ bile acids accounted for 88.3% of total bile acids, 5α-bile acids for 0.9%, and primary bile acids for 9.1%. Immunoblot analysis of the liver tissue showed an indistinct band of 5β-reductase. Conclusions These findings suggest that this patient had a secondary 5β-reductase deficiency, due to severe liver damage even though β-oxo Δ-bile-acids constituted more than 70%, of total urinary bile-acids. However, the patient may possibly have had an inherited 5β-reductase deficiency.
Bibliographic Details
http://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&scp=7144259756&origin=inward; http://dx.doi.org/10.1007/s004310050835; http://www.ncbi.nlm.nih.gov/pubmed/9625335; http://link.springer.com/10.1007/s004310050835; https://dx.doi.org/10.1007/s004310050835; https://link.springer.com/article/10.1007/s004310050835; http://www.springerlink.com/index/10.1007/s004310050835; http://www.springerlink.com/index/pdf/10.1007/s004310050835
Springer Science and Business Media LLC
Provide Feedback
Have ideas for a new metric? Would you like to see something else here?Let us know