{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2022,4,5]],"date-time":"2022-04-05T21:12:51Z","timestamp":1649193171279},"reference-count":7,"publisher":"Walter de Gruyter GmbH","issue":"4","license":[{"start":{"date-parts":[[2021,12,1]],"date-time":"2021-12-01T00:00:00Z","timestamp":1638316800000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/3.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,12,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n               <jats:p>A 4-month-old patient was admitted to the emergency room for vomiting, weight gain, food refusal and hypertension. Blood gases showed a metabolic acidosis with increased anion gap. Laboratory finding revealed severe renal failure (creatinine 8 mg\/dL). Renal ultrasound showed an important hyperechogenicity of the parenchyma with loss of cortico-medullar differentiation suggesting a nephronophytosis. Genetic testing was negative. Urine oxalate levels were increased to 140 \u03bcmol\/L. New genetic tests were positive for type I hyperoxaluria. The authors discuss the management of hyperoxaluria.<\/jats:p>","DOI":"10.2478\/jtim-2020-000x","type":"journal-article","created":{"date-parts":[[2022,2,4]],"date-time":"2022-02-04T14:56:50Z","timestamp":1643986610000},"page":"318-322","source":"Crossref","is-referenced-by-count":0,"title":["Hyperoxaluria: An early diagnosis will allow a timely combined renal and liver transplantations to avoid irreversible damages to all other organs"],"prefix":"10.2478","volume":"9","author":[{"given":"Elisa","family":"Kottos","sequence":"first","affiliation":[{"name":"1 Department of Emergency Medicine, Queen Fabiola Children\u2019s University Hospital (Hopital Universitaire des enfants Reine Fabiola), Free University of Brussels (Universit\u00e9Libre de Bruxelles, ULB) , Brussels , Belgium ;"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Brigitte","family":"Adams","sequence":"additional","affiliation":[{"name":"2 Department of Nephrology, Queen Fabiola Children\u2019s University Hospital (Hopital Universitaire des enfants Reine Fabiola), Free University of Brussels (Universit\u00e9Libre de Bruxelles, ULB) , Brussels , Belgium ;"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dominique","family":"Biarent","sequence":"additional","affiliation":[{"name":"1 Department of Emergency Medicine, Queen Fabiola Children\u2019s University Hospital (Hopital Universitaire des enfants Reine Fabiola), Free University of Brussels (Universit\u00e9Libre de Bruxelles, ULB) , Brussels , Belgium ;"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xavier","family":"Beretta-Piccoli","sequence":"additional","affiliation":[{"name":"1 Department of Emergency Medicine, Queen Fabiola Children\u2019s University Hospital (Hopital Universitaire des enfants Reine Fabiola), Free University of Brussels (Universit\u00e9Libre de Bruxelles, ULB) , Brussels , Belgium ;"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Khalid","family":"Ismaili","sequence":"additional","affiliation":[{"name":"2 Department of Nephrology, Queen Fabiola Children\u2019s University Hospital (Hopital Universitaire des enfants Reine Fabiola), Free University of Brussels (Universit\u00e9Libre de Bruxelles, ULB) , Brussels , Belgium ;"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David","family":"De Bels","sequence":"additional","affiliation":[{"name":"3 Department of Intensive Care Nephrology, Brugmann University Hospital, Free University of Brussels (Universit\u00e9Libre de Bruxelles, ULB) , Brussels , Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patrick M.","family":"Honore","sequence":"additional","affiliation":[{"name":"3 Department of Intensive Care Nephrology, Brugmann University Hospital, Free University of Brussels (Universit\u00e9Libre de Bruxelles, ULB) , Brussels , Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sebastien","family":"Redant","sequence":"additional","affiliation":[{"name":"1 Department of Emergency Medicine, Queen Fabiola Children\u2019s University Hospital (Hopital Universitaire des enfants Reine Fabiola), Free University of Brussels (Universit\u00e9Libre de Bruxelles, ULB) , Brussels , Belgium ;"},{"name":"3 Department of Intensive Care Nephrology, Brugmann University Hospital, Free University of Brussels (Universit\u00e9Libre de Bruxelles, ULB) , Brussels , Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2021,12,31]]},"reference":[{"key":"2022040217231989807_j_jtim-2020-000X_ref_001","doi-asserted-by":"crossref","unstructured":"Cochat P, Koch Nogueira PC, Mahmoud MA, Jamieson NV, Scheinman JI, Rolland MO. Primary hyperoxaluria in infants: Medical, ethical and economic issues. J Pediatr 1999;135:746-50.","DOI":"10.1016\/S0022-3476(99)70095-8"},{"key":"2022040217231989807_j_jtim-2020-000X_ref_002","doi-asserted-by":"crossref","unstructured":"Harambat J, van Stralen KJ, Espinosa L, Groothoff JW, Hulton SA, Cerkauskiene R, et al. Characteristics and Outcomes of Children with Primary Oxalosis Requiring Renal Replacement Therapy. Clin J Am Soc Nephrol 2012;7:458-65.","DOI":"10.2215\/CJN.07430711"},{"key":"2022040217231989807_j_jtim-2020-000X_ref_003","doi-asserted-by":"crossref","unstructured":"Rumsby G, Cochat P. Primary Hyperoxaluria. N Engl J Med 2013;369:2163.","DOI":"10.1056\/NEJMc1311606"},{"key":"2022040217231989807_j_jtim-2020-000X_ref_004","doi-asserted-by":"crossref","unstructured":"Mandrile G, van Woerden CS, Berchialla P, Beck BB, Acquaviva Bourdain C, Hulton SA, et al. Data from a large European study indicate that the outcome of primary hyperoxaluria type 1 correlates with the AGXT mutation type. Kidney Int 2014;86:1197-204.","DOI":"10.1038\/ki.2014.222"},{"key":"2022040217231989807_j_jtim-2020-000X_ref_005","doi-asserted-by":"crossref","unstructured":"Atiskova Y, Dulz S, Schm\u00e4schke K, Oh J, Grabhorn E, Kemper MJ, et al. Oxalate retinopathy is irreversible despite early combined liver-kidney transplantation in primary hyperoxaluria type 1. Am J Transplant 2019;19:3328-34.","DOI":"10.1111\/ajt.15484"},{"key":"2022040217231989807_j_jtim-2020-000X_ref_006","doi-asserted-by":"crossref","unstructured":"Ozer A, Aktas H, Bulum B, Emiroglu R. The experience of combined and sequential liver and kidney transplantation from a single living donor in patients with primary hyperoxaluria type 1. Pediatr Transplant 2019;23:e13406.","DOI":"10.1111\/petr.13406"},{"key":"2022040217231989807_j_jtim-2020-000X_ref_007","doi-asserted-by":"crossref","unstructured":"Weigert A, Martin-Higueras C, Hoppe B. Novel therapeutic approaches in primary hyperoxaluria. Expert OpinEmerg Drugs 2018;23:349-57.","DOI":"10.1080\/14728214.2018.1552940"}],"container-title":["Journal of Translational Internal Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.sciendo.com\/pdf\/10.2478\/jtim-2020-000X","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,4,3]],"date-time":"2022-04-03T00:10:59Z","timestamp":1648944659000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.sciendo.com\/article\/10.2478\/jtim-2020-000X"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,12,1]]},"references-count":7,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2021,12,31]]},"published-print":{"date-parts":[[2021,12,1]]}},"alternative-id":["10.2478\/jtim-2020-000X"],"URL":"https:\/\/doi.org\/10.2478\/jtim-2020-000x","relation":{},"ISSN":["2224-4018"],"issn-type":[{"value":"2224-4018","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,12,1]]}}}