{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T10:09:10Z","timestamp":1767262150289,"version":"3.41.0"},"reference-count":12,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"5","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2025,7]]},"abstract":"<jats:sec>\n            <jats:title\/>\n            <jats:p>Hereditary hepatic fibrinogen storage disease (HHFS) is an extremely rare genetic disorder caused by mutations in the fibrinogen gamma (<jats:italic toggle=\"yes\">FGG<\/jats:italic>) gene. Clinical presentations range from asymptomatic cases to severe symptoms. We present the case of a 9-year-old boy with persistently elevated liver enzymes who exhibited no clinical symptoms. A liver biopsy revealed hepatic fibrinogen storage disease, and genetic testing identified a heterozygous mutation, c.1113T&gt;A, p.(Asn371Lys) in <jats:italic toggle=\"yes\">FGG<\/jats:italic>. This is the first reported case of HHFS in Korea, as well as the first report of this novel mutation. Multigene panel testing played a crucial role in diagnosing this rare condition. Following three months of ursodeoxycholic acid medication, liver enzyme levels normalized, and the patient is currently under follow-up.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1097\/mbc.0000000000001358","type":"journal-article","created":{"date-parts":[[2025,6,12]],"date-time":"2025-06-12T10:00:11Z","timestamp":1749722411000},"page":"204-207","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":1,"title":["Hereditary hepatic fibrinogen storage disease with a novel fibrinogen variant FGG c.1113T&gt;A (fibrinogen Seoul III)"],"prefix":"10.1097","volume":"36","author":[{"given":"Kyong Eun","family":"Choi","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Seon Young","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hansol","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoon Zi","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sang Yun","family":"Ha","sequence":"additional","affiliation":[{"name":"Department of Pathology and Translational Genomics, Samsung Medical Center, Sungkyunkwan University of Medicine"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yon Ho","family":"Choe","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Boram","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Diagnostic Laboratory Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hee-Jin","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Diagnostic Laboratory Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mi Jin","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"276","published-online":{"date-parts":[[2025,6,12]]},"reference":[{"key":"R1-20250703","doi-asserted-by":"crossref","first-page":"E7830","DOI":"10.3390\/ijms21217830","article-title":"Hereditary hypofibrinogenemia with hepatic storage","volume":"21","author":"Asselta","year":"2020","journal-title":"Int J Mol Sci"},{"key":"R2-20250703","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1016\/S0002-9440(10)64530-0","article-title":"Fibrinogen brescia: hepatic endoplasmic reticulum storage and hypofibrinogenemia because of a gamma284 Gly-->Arg mutation","volume":"157","author":"Brennan","year":"2000","journal-title":"Am J Pathol"},{"key":"R3-20250703","doi-asserted-by":"crossref","first-page":"965","DOI":"10.1160\/TH05-05-0334","article-title":"Fibrinogen Saint-Germain II: hypofibrinogenemia due to heterozygous gamma N345S mutation","volume":"94","author":"de Raucourt","year":"2005","journal-title":"Thromb Haemost"},{"key":"R4-20250703","doi-asserted-by":"crossref","first-page":"637","DOI":"10.1055\/s-0037-1613585","article-title":"New molecular defects in the gamma subdomain of fibrinogen D-domain in four cases of (hypo)dysfibrinogenemia: fibrinogen variants Hannover VI, Homburg VII, Stuttgart and Suhl","volume":"89","author":"Meyer","year":"2003","journal-title":"Thromb Haemost"},{"key":"R5-20250703","doi-asserted-by":"crossref","first-page":"585","DOI":"10.1055\/s-0033-1349222","article-title":"Congenital fibrinogen disorders: an update","volume":"39","author":"de Moerloose","year":"2013","journal-title":"Semin Thromb Hemost"},{"key":"R6-20250703","doi-asserted-by":"crossref","first-page":"584","DOI":"10.1111\/ejh.13941","article-title":"Management of rare inherited bleeding disorders: proposals of the French Reference Centre on Haemophilia and Rare Coagulation Disorders","volume":"110","author":"Trossaert","year":"2023","journal-title":"Eur J Haematol"},{"key":"R7-20250703","doi-asserted-by":"crossref","first-page":"1541","DOI":"10.1111\/j.1478-3231.2010.02312.x","article-title":"Novel fibrinogen mutation gamma314Thr-->Pro (fibrinogen AI duPont) associated with hepatic fibrinogen storage disease and hypofibrinogenaemia","volume":"30","author":"Brennan","year":"2010","journal-title":"Liver Int"},{"key":"R8-20250703","doi-asserted-by":"crossref","first-page":"1459","DOI":"10.1111\/jth.13021","article-title":"Hepatic fibrinogen storage disease: identification of two novel mutations (p.Asp316Asn, fibrinogen Pisa and p Gly366Ser, fibrinogen Beograd) impacting on the fibrinogen gamma-module","volume":"13","author":"Asselta","year":"2015","journal-title":"J Thromb Haemost"},{"key":"R9-20250703","doi-asserted-by":"crossref","first-page":"534","DOI":"10.1016\/j.pathol.2017.03.007","article-title":"A novel fibrinogen gamma chain mutation (c.1096C>G; p.His340Asp), fibrinogen Ankara, causing hypofibrinogenaemia and hepatic storage","volume":"49","author":"Callea","year":"2017","journal-title":"Pathology"},{"key":"R10-20250703","doi-asserted-by":"crossref","first-page":"1999","DOI":"10.1111\/j.1538-7836.2007.02713.x","article-title":"Fibrinogen angers with a new deletion (gamma GVYYQ 346-350) causes hypofibrinogenemia with hepatic storage","volume":"5","author":"Dib","year":"2007","journal-title":"J Thromb Haemost"},{"key":"R11-20250703","doi-asserted-by":"crossref","first-page":"5139","DOI":"10.3390\/ijms21145139","article-title":"Structural characteristics in the gamma chain variants associated with fibrinogen storage disease suggest the underlying pathogenic mechanism","volume":"21","author":"Burcu","year":"2020","journal-title":"Int J Mol Sci"},{"key":"R12-20250703","doi-asserted-by":"crossref","first-page":"652","DOI":"10.1053\/jhep.2002.35063","article-title":"Novel fibrinogen gamma375 Arg-->Trp mutation (fibrinogen aguadilla) causes hepatic endoplasmic reticulum storage and hypofibrinogenemia","volume":"36","author":"Brennan","year":"2002","journal-title":"Hepatology"}],"container-title":["Blood Coagulation &amp; Fibrinolysis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.lww.com\/10.1097\/MBC.0000000000001358","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,7,3]],"date-time":"2025-07-03T09:00:21Z","timestamp":1751533221000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.lww.com\/10.1097\/MBC.0000000000001358"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,6,12]]},"references-count":12,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2025]]}},"URL":"https:\/\/doi.org\/10.1097\/mbc.0000000000001358","relation":{},"ISSN":["0957-5235","1473-5733"],"issn-type":[{"type":"print","value":"0957-5235"},{"type":"electronic","value":"1473-5733"}],"subject":[],"published":{"date-parts":[[2025,6,12]]},"assertion":[{"value":"2024-12-10","name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-03-06","name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}}]}}