@Article{Lipiński2020,
journal="Polish Journal of Pathology",
issn="1233-9687",
volume="71",
number="1",
year="2020",
title="Liver involvement in NGLY1 congenital disorder of deglycosylation",
abstract="N-glycanase 1 deficiency is a congenital disorder of deglycosylation, which has been diagnosed in 27 patients, including 2 of them from Poland. The most characteristic symptoms include global developmental disability, hyperkinetic movement disorder, hypo-/alacrimia, and elevated serum transaminases. We reported on a patient in whom the liver biopsy done at the age of 3 years revealed the presence of steatosis, fibrosis, and an amorphous periodic acid-Schiff staining positive diastases-digested material in the cytoplasm.",
author="Lipiński, Patryk
and Cielecka-Kuszyk, Joanna
and Socha, Piotr
and Tylki-Szymańska, Anna",
pages="66--68",
doi="10.5114/pjp.2020.92994",
url="http://dx.doi.org/10.5114/pjp.2020.92994"
}