Isovalerianeacidaemi - en sjaelden og alvorlig defekt i nedbrydningen af leucin
Engelsk titel: Isovaleric acidaemia - a rare and serious defect in the metabolism of leucine
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Författare:
Lund, Ann-Britt Kiholm
;
Lund, Allan Meldgaard
Email: annbritt.lund@gmail.com
Språk: Dan
Antal referenser: 7
Dokumenttyp:
Artikel
UI-nummer: 11041144
Sammanfattning
Isovaleric acidaemia (IVA) is an organic acidemia caused by deficient metabolism of the essential amino acid leucine. We describe the biochemistry, diagnostics, and treatment of IVA, and present the known Danish patients.