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Familial lysinuric protein intolerance presenting as coma in two adult siblings.
Lysinuric protein intolerance (LPI) is an inborn error of metabolism which usually presents in infancy with failure to thrive and vomiting. Two patients are described who presented in adult life with hyperammonaemic coma due to LPI. Both had been underweight and had had intermittent gastrointestinal...
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| Autors principals: | , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
1989
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1032181/ https://ncbi.nlm.nih.gov/pubmed/2732736 |
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