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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Bibliografische gegevens

Hoofdauteurs:	Chanika Lokuhewage, Hashan Pathiraja, Piyumi Madawala, Sudarshana Bandara, Sachith Mettananda
Formaat:	Artigo
Taal:	Inglês
Gepubliceerd in:	BMC 2023-08-01
Reeks:	BMC Pediatrics
Onderwerpen:	Lysinuric protein intolerance Splenomegaly Pancytopenia Leukaemia
Online toegang:	https://doi.org/10.1186/s12887-023-04207-7
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