{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T23:30:14Z","timestamp":1777937414488,"version":"3.51.4"},"reference-count":20,"publisher":"SAGE Publications","issue":"6","license":[{"start":{"date-parts":[[2017,3,7]],"date-time":"2017-03-07T00:00:00Z","timestamp":1488844800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Pediatr Dev Pathol"],"published-print":{"date-parts":[[2017,12]]},"abstract":"<jats:p>Arginase 1 deficiency, the least common urea cycle disorder, commonly presents with childhood-onset spastic paraplegia, progressive neurologic impairment, epilepsy, and developmental delay or regression. Biopsy-proven cirrhosis and hepatocellular carcinoma diagnosed via clinical and imaging studies (but without biopsy confirmation) have been previously reported. We report, herein, a case of a 53-year-old woman with arginase 1 deficiency who developed symptoms of \u201cabdominal bloating.\u201d Imaging studies (ultrasound and magnetic resonance imaging) demonstrated 2 dominant hepatic masses, measuring 5.9\u2009cm and 5.7\u2009cm in greatest dimensions and located in hepatic segments 5 and 6, respectively. Core biopsies of the lesions demonstrated well-differentiated hepatocellular carcinoma. Immunohistochemistry performed on the segment 5 lesion was negative for arginase 1. This report represents, to the best of our knowledge, the first case of biopsy-proven hepatocellular carcinoma in an individual with arginase 1 deficiency.<\/jats:p>","DOI":"10.1177\/1093526617697058","type":"journal-article","created":{"date-parts":[[2017,11,30]],"date-time":"2017-11-30T01:43:27Z","timestamp":1512006207000},"page":"517-521","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":14,"title":["Biopsy-proven Hepatocellular Carcinoma in a 53-year-old Woman With Arginase Deficiency"],"prefix":"10.1177","volume":"20","author":[{"given":"Matthew","family":"Koo","sequence":"first","affiliation":[{"name":"Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at UCLA, California"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gerald S","family":"Lipshutz","sequence":"additional","affiliation":[{"name":"Department of Surgery, David Geffen School of Medicine at UCLA, California"},{"name":"Intellectual and Developmental Disabilities Research Center at UCLA, California"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stephen D","family":"Cederbaum","sequence":"additional","affiliation":[{"name":"Intellectual and Developmental Disabilities Research Center at UCLA, California"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Charles","family":"Lassman","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at UCLA, California"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2017,3,7]]},"reference":[{"key":"bibr1-1093526617697058","unstructured":"Cederbaum S, Crombez EA. Arginase deficiency: GeneReviews [internet]. Seattle, WA: University of Washington, http:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1159\/. Accessed February 20, 2017."},{"key":"bibr2-1093526617697058","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2004.11.004"},{"key":"bibr3-1093526617697058","doi-asserted-by":"publisher","DOI":"10.1097\/00005176-199702000-00018"},{"key":"bibr4-1093526617697058","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2012.06.012"},{"key":"bibr5-1093526617697058","unstructured":"Marsecau B, DeDeyn PP, Qureski AI. Guanidino compounds in hyperargininaemia. In: DeDeyn PP, ed.\n                      Guanidino Compounds in Biology and Medicine\n                      . 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