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...
Sábháilte in:
| Príomhchruthaitheoirí: | , , , , |
|---|---|
| Formáid: | Artigo |
| Teanga: | Inglês |
| Foilsithe / Cruthaithe: |
BMC
2023-08-01
|
| Sraith: | BMC Pediatrics |
| Ábhair: | |
| Rochtain ar líne: | https://doi.org/10.1186/s12887-023-04207-7 |
| Clibeanna: |
Níl clibeanna ann, Bí ar an gcéad duine le clib a chur leis an taifead seo!
|