Diagnosis of the first Japanese patient with 3-oxo-Δ4-steroid 5β-reductase deficiency by use of immunoblot analysis-Reference-Cited by-同舟云学术

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Diagnosis of the first Japanese patient with 3-oxo-Δ4-steroid 5β-reductase deficiency by use of immunoblot analysis

Published:1998-05 Issue:5 Volume:157 Page:386-390
ISSN:0340-6199
Container-title:European Journal of Pediatrics
language:en
Short-container-title:Eur J Pediatr

Author:

Kimura A.,Kondo K. -H.,Okuda K. -I.,Higashi S.,Suzuki M.,Kurosawa T.,Tohma M.,Inoue T.,Nishiyori A.,Yoshino M.,Kato H.,Setoguchi T.

Publisher

Springer Science and Business Media LLC

Subject

Pediatrics, Perinatology and Child Health

Link

http://link.springer.com/content/pdf/10.1007/s004310050835.pdf

Reference23 articles.

1. Cali JJ, Hsieh C-L, Francke U, Russell DW (1991) Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis. J Biol Chem 266:7779–7783

2. Clayton PT (1991) Inborn error of bile acid metabolism. J Inherit Metab Dis 14:478–496

3. Clayton PT (1994) Δ4-3-Oxosteroid 5β-reductase deficiency and neonatal hemochromatosis. J Pediatr 125:845–846

4. Clayton PT, Patel E, Lawson AM, Carruthers RA, Tanner WS, Strandvik B, Egestad B, Sjövall J (1988) 3-Oxo-Δ4 bile acids in liver disease. Lancet I:1283–1284

5. Iida T, Nishida S, Chang FC, Niwa T, Goto J, Nambara T (1993) Potential bile acid metabolism. XXI. A new synthesis of allochenodeoxycholic and allocholic acids. Chem Pharm Bull (Tokyo) 41:763–765

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