eISSN: 2300 - 8660
ISSN: 0031-3939
Pediatria Polska - Polish Journal of Paediatrics
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4/2017
vol. 92
 
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abstract:
Review paper

Cholestasis with elevated serum gamma-glutamyl transpeptidase activity - an update

Patryk Lipiński
,
Irena Jankowska

PEDIATRIA POLSKA 92 (2017) 412-416
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 cholestasis with elevated serum gamma-glutamyl transpeptidase activity. Authors presented the pathogenicity, clinical presentation, biochemical and molecular diagnostics of the following disorders: progressive familial intrahepatic cholestasis type 3, adenosine kinase deficiency, neonatal ichthyosis - sclerosing cholangitis syndrome.
keywords:

Adenosine kinase deficiency, Neonatal ichtyosis- sclerosis-cho-langitis, NISCH syndrome, Progressive familial intrahepatic cholestasis