Year 2019 / Volume 111 / Number 2
Letter
Liver transplantation in patients with type IIIa glycogen storage disease, cirrhosis and hepatocellular carcinoma

168-169

DOI: 10.17235/reed.2018.5856/2018

Elena Iglesias Jorquera, Paula Tomás Pujante, Gema Ruiz García, Ángel Manuel Vargas Acosta, José Antonio Pons Miñano,

Abstract
Type III glycogen storage disease (GSD-III) is an autosomal recessive disorder due to the deficiency of the glycogen debrancher enzyme. 80% of the patients have hepatic and muscular involvement (IIIa), compared to 15% with only liver involvement (IIIb). As the life expectancy improves in these patients, the possible liver complications are better understood.
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References
1. Sentner CP, Hoogeveen IJ, Weinstein DA, et al. Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcome. J Inherit Metab Dis. 2016;39:697–704. DOI 10.1007/s10545-016-9932-2.
2. Haagsma EB, Smit GP, Niezen-Koning KE, et al. Type IIIb Glycogen Storage Disease Associated With End-Stage Cirrhosis and Hepatocellular Carcinoma. HEPATOLOGY. 1997;25(3):537-540.
3. Kondo Y, Usui H, Wada M, et al Liver cirrhosis treated by living donor liver transplantation in a patient with AGL mutation c.2607-2610delATTC and c.1672dupA. Clin Chim Acta. 2013;424:19-21. doi: 10.1016/j.cca.2013.05.007
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Citation tools
Iglesias Jorquera E, Tomás Pujante P, Ruiz García G, Vargas Acosta Á, Pons Miñano J. Liver transplantation in patients with type IIIa glycogen storage disease, cirrhosis and hepatocellular carcinoma. 5856/2018


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Publication history

Received: 01/08/2018

Accepted: 28/08/2018

Online First: 15/10/2018

Published: 01/02/2019

Article Online First time: 75 days

Article editing time: 184 days


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