Lysinuric protein intolerance presenting as pancytopenia and splenomegaly mimicking acute leukaemia: a case report

Abstract Background Lysinuric protein intolerance is a rare inherited metabolic disease due to autosomal recessive mutations of the SLC7A7 gene. The affected patients commonly present with protein-rich food intolerance, failure to thrive, hepatosplenomegaly, muscle hypotonia and lung involvement due...

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Váldodahkkit:	Chanika Lokuhewage, Hashan Pathiraja, Piyumi Madawala, Sudarshana Bandara, Sachith Mettananda
Materiálatiipa:	Artigo
Giella:	Inglês
Almmustuhtton:	BMC 2023-08-01
Ráidu:	BMC Pediatrics
Fáttát:	Lysinuric protein intolerance Splenomegaly Pancytopenia Leukaemia
Liŋkkat:	https://doi.org/10.1186/s12887-023-04207-7
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