Die lysinurische Proteinintoleranz ist eine autosomal rezessive Erkrankung, welche durch die Kombination von postprandialer Hyperamoniämie und Aminoazidurie dibasischer Aminosäuren charakterisiert ist.
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Norio R et al. (1971) Congenital chloride diarrhea, an autosomal recessive disease. Genetic study of 14 Finnish and 12 other families. |
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OMIM.ORG article Omim 222700 |
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Orphanet article Orphanet ID 470 |