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...
Main Authors: | Hayasaka K, Numakura C |
---|---|
Format: | Article |
Language: | English |
Published: |
Dove Medical Press
2018-12-01
|
Series: | The Application of Clinical Genetics |
Subjects: | |
Online Access: | https://www.dovepress.com/adult-onset-type-ii-citrullinemia-current-insights-and-therapy-peer-reviewed-article-TACG |
Similar Items
-
Medium-chain triglyceride supplementation under a low-carbohydrate formula is a promising therapy for adult-onset type II citrullinemia
by: Kiyoshi Hayasaka, et al.
Published: (2014-01-01) -
Neonatal intrahepatic cholestasis caused by citrin deficiency due to SLC25A13 gene mutations: a clinical analysis of 21 cases in Nanjing, China
by: GUO Hongmei
Published: (2014-11-01) -
Neonatal intrahepatic cholestasis caused by citrin deficiency with no hepatic steatosis: a case report
by: Ryosuke Miyamoto, et al.
Published: (2021-05-01) -
Combined primary carnitine deficiency with neonatal intrahepatic cholestasis caused by citrin deficiency in a Chinese newborn
by: Yiming Lin, et al.
Published: (2020-10-01) -
Risk factors associated with mortality in neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) and clinical implications
by: Kuerbanjiang Abuduxikuer, et al.
Published: (2019-01-01)