Adult-onset type II citrullinemia: Current insights and therapy

Kiyoshi Hayasaka,1,2 Chikahiko Numakura1 1Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan; 2Department of Pediatrics, Miyukikai Hospital, Kaminoyama, Japan Abstract: Citrin deficiency is a recessively inherited metabolic disorder with age-dependent clinical manifest...

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Hlavní autoři: Hayasaka K, Numakura C
Médium: Artigo
Jazyk:Inglês
Vydáno: Dove Medical Press 2018-12-01
Edice:The Application of Clinical Genetics
Témata:
citrin deficiency
neonatal intrahepatic cholestasis due to citrin deficiency
adult-onset type II citrullinemia
hyperammonemia
medium-chain triglyceride
On-line přístup:https://www.dovepress.com/adult-onset-type-ii-citrullinemia-current-insights-and-therapy-peer-reviewed-article-TACG
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