A Case of Glycogen Storage Disease IV with Rare Homozygous Mutations in the Glycogen Branching Enzyme Gene

Glycogen storage disease (GSD) IV is a rare autosomal recessive inherited disorder caused by mutations in the gene coding for glycogen branching enzyme leading to progressive liver disease. GSD IV is associated with mutations in , which encodes the glycogen branching enzyme. We report a case of GSD...

Full description

Saved in:
Bibliographic Details
Published in:Pediatric gastroenterology, hepatology & nutrition 2018, Hepatology & Nutrition, 21(4), , pp.365-368
Main Authors: Choi, So Yoon, Kang, Ben, Choe, Jae Young, Lee, Yoon, Jang, Hyo Jeong, Park, Hyung-Doo, Lee, Suk-Koo, Choe, Yon Ho
Format: Article
Language:English
Subjects:
Case Report
소아과학
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
cited_by cdi_FETCH-LOGICAL-c403t-92aaf847eb400dfdc58bb763c3eb524b8d66674f3b111e4150eea28c888022fb3
cites cdi_FETCH-LOGICAL-c403t-92aaf847eb400dfdc58bb763c3eb524b8d66674f3b111e4150eea28c888022fb3
container_end_page 368
container_issue 4
container_start_page 365
container_title Pediatric gastroenterology, hepatology & nutrition
container_volume 21
creator Choi, So Yoon
Kang, Ben
Choe, Jae Young
Lee, Yoon
Jang, Hyo Jeong
Park, Hyung-Doo
Lee, Suk-Koo
Choe, Yon Ho
description Glycogen storage disease (GSD) IV is a rare autosomal recessive inherited disorder caused by mutations in the gene coding for glycogen branching enzyme leading to progressive liver disease. GSD IV is associated with mutations in , which encodes the glycogen branching enzyme. We report a case of GSD IV with rare homozygous mutations in the gene (c.791G>A (p.Gly264Glu), which was successfully treated by liver transplantation.
doi_str_mv 10.5223/pghn.2018.21.4.365
format article
fullrecord <record><control><sourceid>pubmed_nrf_k</sourceid><recordid>TN_cdi_nrf_kci_oai_kci_go_kr_ARTI_3770646</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>30345254</sourcerecordid><originalsourceid>FETCH-LOGICAL-c403t-92aaf847eb400dfdc58bb763c3eb524b8d66674f3b111e4150eea28c888022fb3</originalsourceid><addsrcrecordid>eNpVkctKAzEUhoMoKuoLuJBsXXTMbWbiRqj10oIieNuGTHpmJtomJZkq9elNW6_ZnMB__i-QD6FDSrKcMX4ya1qXMUJlxmgmMl7kG2g3BaInpSCb3_dCFDvoIMYXkk5JOad0G-1wwkXOcrGLXvp4oCNgX-PrycL4Bhx-6HzQDeALG2GZjZ7xu-1afK8D4KGf-o9F4-cR38473VnvIrYOdy38Es6Ddqa1rsGX7mMxTQk42EdbtZ5EOPiae-jp6vJxMOzd3F2PBv2bnhGEd71TpnUtRQmVIGRcj00uq6osuOFQ5UxUclwURSlqXlFKQdCcAGgmjZSSMFZXfA8dr7ku1OrVWOW1Xc3Gq9eg-vePI8XLkqSvSbtn693ZvJrC2IDrgp6oWbBTHRar5v_E2TZx3lRBJROSJwBbA0zwMQaof7qUqKUotRSllqIUo0qoJCqVjv6--lP51sI_AXpdkFo</addsrcrecordid><sourcetype>Open Website</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype></control><display><type>article</type><title>A Case of Glycogen Storage Disease IV with Rare Homozygous Mutations in the Glycogen Branching Enzyme Gene</title><source>PubMed Central</source><creator>Choi, So Yoon ; Kang, Ben ; Choe, Jae Young ; Lee, Yoon ; Jang, Hyo Jeong ; Park, Hyung-Doo ; Lee, Suk-Koo ; Choe, Yon Ho</creator><creatorcontrib>Choi, So Yoon ; Kang, Ben ; Choe, Jae Young ; Lee, Yoon ; Jang, Hyo Jeong ; Park, Hyung-Doo ; Lee, Suk-Koo ; Choe, Yon Ho</creatorcontrib><description>Glycogen storage disease (GSD) IV is a rare autosomal recessive inherited disorder caused by mutations in the gene coding for glycogen branching enzyme leading to progressive liver disease. GSD IV is associated with mutations in , which encodes the glycogen branching enzyme. We report a case of GSD IV with rare homozygous mutations in the gene (c.791G&gt;A (p.Gly264Glu), which was successfully treated by liver transplantation.</description><identifier>ISSN: 2234-8646</identifier><identifier>EISSN: 2234-8840</identifier><identifier>DOI: 10.5223/pghn.2018.21.4.365</identifier><identifier>PMID: 30345254</identifier><language>eng</language><publisher>Korea (South): The Korean Society of Pediatric Gastroenterology, Hepatology and Nutrition</publisher><subject>Case Report ; 소아과학</subject><ispartof>Pediatric Gastroenterology, 2018, Hepatology &amp; Nutrition, 21(4), , pp.365-368</ispartof><rights>Copyright © 2018 by The Korean Society of Pediatric Gastroenterology, Hepatology and Nutrition 2018 The Korean Society of Pediatric Gastroenterology, Hepatology and Nutrition</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c403t-92aaf847eb400dfdc58bb763c3eb524b8d66674f3b111e4150eea28c888022fb3</citedby><cites>FETCH-LOGICAL-c403t-92aaf847eb400dfdc58bb763c3eb524b8d66674f3b111e4150eea28c888022fb3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC6182483/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC6182483/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,727,780,784,885,27924,27925,53791,53793</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/30345254$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink><backlink>$$Uhttps://www.kci.go.kr/kciportal/ci/sereArticleSearch/ciSereArtiView.kci?sereArticleSearchBean.artiId=ART002393583$$DAccess content in National Research Foundation of Korea (NRF)$$Hfree_for_read</backlink></links><search><creatorcontrib>Choi, So Yoon</creatorcontrib><creatorcontrib>Kang, Ben</creatorcontrib><creatorcontrib>Choe, Jae Young</creatorcontrib><creatorcontrib>Lee, Yoon</creatorcontrib><creatorcontrib>Jang, Hyo Jeong</creatorcontrib><creatorcontrib>Park, Hyung-Doo</creatorcontrib><creatorcontrib>Lee, Suk-Koo</creatorcontrib><creatorcontrib>Choe, Yon Ho</creatorcontrib><title>A Case of Glycogen Storage Disease IV with Rare Homozygous Mutations in the Glycogen Branching Enzyme Gene</title><title>Pediatric gastroenterology, hepatology &amp; nutrition</title><addtitle>Pediatr Gastroenterol Hepatol Nutr</addtitle><description>Glycogen storage disease (GSD) IV is a rare autosomal recessive inherited disorder caused by mutations in the gene coding for glycogen branching enzyme leading to progressive liver disease. GSD IV is associated with mutations in , which encodes the glycogen branching enzyme. We report a case of GSD IV with rare homozygous mutations in the gene (c.791G&gt;A (p.Gly264Glu), which was successfully treated by liver transplantation.</description><subject>Case Report</subject><subject>소아과학</subject><issn>2234-8646</issn><issn>2234-8840</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2018</creationdate><recordtype>article</recordtype><recordid>eNpVkctKAzEUhoMoKuoLuJBsXXTMbWbiRqj10oIieNuGTHpmJtomJZkq9elNW6_ZnMB__i-QD6FDSrKcMX4ya1qXMUJlxmgmMl7kG2g3BaInpSCb3_dCFDvoIMYXkk5JOad0G-1wwkXOcrGLXvp4oCNgX-PrycL4Bhx-6HzQDeALG2GZjZ7xu-1afK8D4KGf-o9F4-cR38473VnvIrYOdy38Es6Ddqa1rsGX7mMxTQk42EdbtZ5EOPiae-jp6vJxMOzd3F2PBv2bnhGEd71TpnUtRQmVIGRcj00uq6osuOFQ5UxUclwURSlqXlFKQdCcAGgmjZSSMFZXfA8dr7ku1OrVWOW1Xc3Gq9eg-vePI8XLkqSvSbtn693ZvJrC2IDrgp6oWbBTHRar5v_E2TZx3lRBJROSJwBbA0zwMQaof7qUqKUotRSllqIUo0qoJCqVjv6--lP51sI_AXpdkFo</recordid><startdate>20181001</startdate><enddate>20181001</enddate><creator>Choi, So Yoon</creator><creator>Kang, Ben</creator><creator>Choe, Jae Young</creator><creator>Lee, Yoon</creator><creator>Jang, Hyo Jeong</creator><creator>Park, Hyung-Doo</creator><creator>Lee, Suk-Koo</creator><creator>Choe, Yon Ho</creator><general>The Korean Society of Pediatric Gastroenterology, Hepatology and Nutrition</general><general>대한소아소화기영양학회</general><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>5PM</scope><scope>ACYCR</scope></search><sort><creationdate>20181001</creationdate><title>A Case of Glycogen Storage Disease IV with Rare Homozygous Mutations in the Glycogen Branching Enzyme Gene</title><author>Choi, So Yoon ; Kang, Ben ; Choe, Jae Young ; Lee, Yoon ; Jang, Hyo Jeong ; Park, Hyung-Doo ; Lee, Suk-Koo ; Choe, Yon Ho</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c403t-92aaf847eb400dfdc58bb763c3eb524b8d66674f3b111e4150eea28c888022fb3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2018</creationdate><topic>Case Report</topic><topic>소아과학</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Choi, So Yoon</creatorcontrib><creatorcontrib>Kang, Ben</creatorcontrib><creatorcontrib>Choe, Jae Young</creatorcontrib><creatorcontrib>Lee, Yoon</creatorcontrib><creatorcontrib>Jang, Hyo Jeong</creatorcontrib><creatorcontrib>Park, Hyung-Doo</creatorcontrib><creatorcontrib>Lee, Suk-Koo</creatorcontrib><creatorcontrib>Choe, Yon Ho</creatorcontrib><collection>PubMed</collection><collection>CrossRef</collection><collection>PubMed Central (Full Participant titles)</collection><collection>Korean Citation Index</collection><jtitle>Pediatric gastroenterology, hepatology &amp; nutrition</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Choi, So Yoon</au><au>Kang, Ben</au><au>Choe, Jae Young</au><au>Lee, Yoon</au><au>Jang, Hyo Jeong</au><au>Park, Hyung-Doo</au><au>Lee, Suk-Koo</au><au>Choe, Yon Ho</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>A Case of Glycogen Storage Disease IV with Rare Homozygous Mutations in the Glycogen Branching Enzyme Gene</atitle><jtitle>Pediatric gastroenterology, hepatology &amp; nutrition</jtitle><addtitle>Pediatr Gastroenterol Hepatol Nutr</addtitle><date>2018-10-01</date><risdate>2018</risdate><volume>21</volume><issue>4</issue><spage>365</spage><epage>368</epage><pages>365-368</pages><issn>2234-8646</issn><eissn>2234-8840</eissn><abstract>Glycogen storage disease (GSD) IV is a rare autosomal recessive inherited disorder caused by mutations in the gene coding for glycogen branching enzyme leading to progressive liver disease. GSD IV is associated with mutations in , which encodes the glycogen branching enzyme. We report a case of GSD IV with rare homozygous mutations in the gene (c.791G&gt;A (p.Gly264Glu), which was successfully treated by liver transplantation.</abstract><cop>Korea (South)</cop><pub>The Korean Society of Pediatric Gastroenterology, Hepatology and Nutrition</pub><pmid>30345254</pmid><doi>10.5223/pghn.2018.21.4.365</doi><tpages>4</tpages><oa>free_for_read</oa></addata></record>
fulltext fulltext
identifier ISSN: 2234-8646
ispartof Pediatric Gastroenterology, 2018, Hepatology & Nutrition, 21(4), , pp.365-368
issn 2234-8646
2234-8840
language eng
recordid cdi_nrf_kci_oai_kci_go_kr_ARTI_3770646
source PubMed Central
subjects Case Report
소아과학
title A Case of Glycogen Storage Disease IV with Rare Homozygous Mutations in the Glycogen Branching Enzyme Gene
url http://sfxeu10.hosted.exlibrisgroup.com/loughborough?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-04T15%3A04%3A32IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-pubmed_nrf_k&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=A%20Case%20of%20Glycogen%20Storage%20Disease%20IV%20with%20Rare%20Homozygous%20Mutations%20in%20the%20Glycogen%20Branching%20Enzyme%20Gene&rft.jtitle=Pediatric%20gastroenterology,%20hepatology%20&%20nutrition&rft.au=Choi,%20So%20Yoon&rft.date=2018-10-01&rft.volume=21&rft.issue=4&rft.spage=365&rft.epage=368&rft.pages=365-368&rft.issn=2234-8646&rft.eissn=2234-8840&rft_id=info:doi/10.5223/pghn.2018.21.4.365&rft_dat=%3Cpubmed_nrf_k%3E30345254%3C/pubmed_nrf_k%3E%3Cgrp_id%3Ecdi_FETCH-LOGICAL-c403t-92aaf847eb400dfdc58bb763c3eb524b8d66674f3b111e4150eea28c888022fb3%3C/grp_id%3E%3Coa%3E%3C/oa%3E%3Curl%3E%3C/url%3E&rft_id=info:oai/&rft_id=info:pmid/30345254&rfr_iscdi=true