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ISSN: 0031-3939
Pediatria Polska - Polish Journal of Paediatrics
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2/2018
vol. 93
 
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abstract:
Review paper

Liver metabolic diseases presenting with liver enlargement

Patryk Lipiński
,
Edyta Szymańska
,
Anna Tylki-Szymańska

Pediatr Pol 2018; 93 (2): 165–179
DOI: https://doi.org/10.5114/polp.2018.76252
Online publish date: 2018/06/07
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The article constitutes a review of clinical manifestations, laboratory abnormalities, and diagnostics of liver metabolic diseases presenting with hepatomegaly.
keywords:

lysosomal acid lipase deficiency, Gaucher disease, Niemann-Pick disease, glycogen storage disorders, gangliosidoses, mucopolisaccharidoses, congenital disorders of glycosylation