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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Main Authors: Chanika Lokuhewage (Author), Hashan Pathiraja (Author), Piyumi Madawala (Author), Sudarshana Bandara (Author), Sachith Mettananda (Author)
Format: Book
Published: BMC, 2023-08-01T00:00:00Z.
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3rd Floor Main Library

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Call Number: A1234.567
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