Diagnosis of inherited disorders of liver metabolism
Author:
Affiliation:
1. ; Institute of Child Health; University College London and Great Ormond Street Hospital for Children NHS Trust; London WCIN 1EH UK
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1023/A:1024429032116/fullpdf
Reference43 articles.
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3. Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3-hydroxysteroid-A5-desaturase;Brunetti-Pierri;Am J Hum Genet,2002
4. Inborn errors presenting with liver dysfunction;Clayton;Semin Neonatol,2002
5. Familial giant cell hepatitis with low bile acid concentrations and increased urinary excretion of specific bile alcohols. A new inborn error of bile acid synthesis?;Clayton;Pediatr Res,1995
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