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

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 to impa...

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Detalles Bibliográficos
Autores principales:	Lokuhewage, Chanika, Pathiraja, Hashan, Madawala, Piyumi, Bandara, Sudarshana, Mettananda, Sachith
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2023
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10391768/ https://www.ncbi.nlm.nih.gov/pubmed/37528333 http://dx.doi.org/10.1186/s12887-023-04207-7

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