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Published in 2021 at "Clinical Pediatrics"
DOI: 10.1177/00099228211059668
Abstract: Gaucher disease (GD) is a rare autosomal recessive metabolic disorder. It is characterized by a deficiency of lysosomal glucocerebrosidase, which results in the accumulation of glycosphingolipid substrates, primarily glucosylceramide, in the phagocyte system. In GD…
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Keywords:
hepatosplenomegaly pediatric;
unexpected finding;
finding hepatosplenomegaly;
pediatric patient ... See more keywords