Δ4-3-Oxosteroid 5β-reductase deficiency causing neonatal liver failure and hemochromatosis
- 28 February 1994
- journal article
- case report
- Published by Elsevier BV in The Journal of Pediatrics
- Vol. 124 (2), 234-238
- https://doi.org/10.1016/s0022-3476(94)70310-8
Abstract
No abstract availableKeywords
This publication has 17 references indexed in Scilit:
- Bile acid biosynthesisBiochemistry, 1992
- Oral bile acid treatment and the patient with zellweger syndromeHepatology, 1992
- Case 3 A New Category of Causes of Intrahepatic CholestasisPediatric Pathology, 1992
- Fetal and neonatal bile acid synthesis and metabolism — Clinical implicationsJournal of Inherited Metabolic Disease, 1991
- Delta 4-3-oxosteroid 5 beta-reductase deficiency described in identical twins with neonatal hepatitis. A new inborn error in bile acid synthesis.JCI Insight, 1988
- Oropharyngeal and upper respiratory tract mucosal-gland siderosis in neonatal hemochromatosis: An approach to biopsy diagnosisThe Journal of Pediatrics, 1988
- Defective peroxisomal cleavage of the C27-steroid side chain in the cerebro-hepato-renal syndrome of Zellweger.JCI Insight, 1985
- Idiopathic neonatal iron storage involving the liver, pancreas, heart, and endocrine and exocrine glandsHepatology, 1981
- Defects of Bile Acid Synthesis in Zellweger's SyndromeScience, 1979
- Studies of malformation syndromes of man XIB: the cerebro-hepato-renal syndrome of zellweger: Comparative pathologyEuropean Journal of Nuclear Medicine and Molecular Imaging, 1976