{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T15:37:21Z","timestamp":1790177841053,"version":"4.1.0"},"reference-count":7,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2020,1,29]],"date-time":"2020-01-29T00:00:00Z","timestamp":1580256000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["JIMD Reports"],"published-print":{"date-parts":[[2020,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Glycogen storage disease type Ia (GSD Ia) is a rare metabolic disease due to glucose\u20106\u2010phosphatase deficiency. Chronic kidney disease is a frequent complication that may manifest itself by glomerular lesions and tubular dysfunction from the second decade of life. We report two young GSDIa patients with malignant renal tumor. The first patient was a 25\u2010year\u2010old man. He had chronic metabolic imbalance without kidney involvement. The tumor, a type 2 papillary renal carcinoma, was accidentally discovered during follow\u2010up. The second patient was a 27\u2010year\u2010old woman with chronic metabolic imbalance and chronic kidney involvement. The tumor, a grade 2 papillary carcinoma, was accidentally discovered during follow\u2010up. These two observations are, to date, the first to be reported. We suggest that annual monitoring of kidney imaging in GSDI patients should be systematic to detect renal cancer, from the second decade of life.<\/jats:p>","DOI":"10.1002\/jmd2.12096","type":"journal-article","created":{"date-parts":[[2020,1,29]],"date-time":"2020-01-29T10:16:44Z","timestamp":1580293004000},"page":"17-22","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Papillary renal cell carcinoma in two young adults with glycogen storage disease type Ia"],"prefix":"10.1002","volume":"52","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8172-5251","authenticated-orcid":false,"given":"Ariane","family":"Perry","sequence":"first","affiliation":[{"name":"APHP, H\u00f4pitaux Universitaires Paris Sud, H\u00f4pital Antoine B\u00e9cl\u00e8re, Centre de r\u00e9f\u00e9rence des maladies h\u00e9r\u00e9ditaires du m\u00e9tabolisme h\u00e9patique  Clamart France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claire","family":"Douillard","sequence":"additional","affiliation":[{"name":"Lille University Hospital, H\u00f4pital Jeanne de Flandres, Centre de r\u00e9f\u00e9rence des maladies h\u00e9r\u00e9ditaires du m\u00e9tabolisme  Lille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frederic","family":"Jonca","sequence":"additional","affiliation":[{"name":"Clinique Ambroise Par\u00e9  Toulouse France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francois","family":"Glowacki","sequence":"additional","affiliation":[{"name":"Nephrology Department Huriez Hospital, Lille University Hospital  Lille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xavier","family":"Leroy","sequence":"additional","affiliation":[{"name":"Department of Pathology Univ. Lille, CHU  Lille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul","family":"Caveriviere","sequence":"additional","affiliation":[{"name":"Anatomy and pathology laboratory, les Feuillants  Toulouse France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aur\u00e9lie","family":"Hubert","sequence":"additional","affiliation":[{"name":"APHP, H\u00f4pitaux Universitaires Paris Sud, H\u00f4pital Antoine B\u00e9cl\u00e8re, Centre de r\u00e9f\u00e9rence des maladies h\u00e9r\u00e9ditaires du m\u00e9tabolisme h\u00e9patique  Clamart France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philippe","family":"Labrune","sequence":"additional","affiliation":[{"name":"APHP, H\u00f4pitaux Universitaires Paris Sud, H\u00f4pital Antoine B\u00e9cl\u00e8re, Centre de r\u00e9f\u00e9rence des maladies h\u00e9r\u00e9ditaires du m\u00e9tabolisme h\u00e9patique  Clamart France"},{"name":"Universit\u00e9 Paris Sud Paris Saclay and INSERM U 1195  France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,1,29]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jhep.2012.09.030"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddw224"},{"issue":"11","key":"e_1_2_8_4_1","article-title":"Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics","volume":"16","author":"Kishnani PS","year":"2014","journal-title":"Genet Med Off J Am Coll Med Genet"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.2215\/CJN.00050109"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ki.2014.102"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-018-0207-y"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1097\/00043426-200003000-00028"}],"container-title":["JIMD Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fjmd2.12096","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jmd2.12096","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/jmd2.12096","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jmd2.12096","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,30]],"date-time":"2023-08-30T18:46:49Z","timestamp":1693421209000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jmd2.12096"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,1,29]]},"references-count":7,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2020,3]]}},"alternative-id":["10.1002\/jmd2.12096"],"URL":"https:\/\/doi.org\/10.1002\/jmd2.12096","archive":["Portico"],"relation":{},"ISSN":["2192-8312","2192-8312"],"issn-type":[{"value":"2192-8312","type":"print"},{"value":"2192-8312","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,1,29]]},"assertion":[{"value":"2019-06-17","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-01-10","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-01-29","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}