en POLSKI
eISSN: 2300 - 8660
ISSN: 0031-3939
Pediatria Polska - Polish Journal of Paediatrics
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5/2017
vol. 92
 
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abstract:
Review paper

Inborn errors of bile acids synthesis - an overview

Patryk Lipiński
,
Piotr Socha
,
Irena Jankowska

PEDIATRIA POLSKA 92 (2017) 567-574
Online publish date: 2018/03/07
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Cholestatic liver diseases remain a major clinical issue for pediatricians. The article constitutes an up-to-day overview on the inborn errors of bile acids synthesis.
keywords:

Defective bile acid amidation, Bifunctional protein deficiency, Bile acids, Inborn errors of metabolism