{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,8]],"date-time":"2026-05-08T21:49:15Z","timestamp":1778276955316,"version":"3.51.4"},"reference-count":18,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,6,2]],"date-time":"2005-06-02T00:00:00Z","timestamp":1117670400000},"content-version":"vor","delay-in-days":10014,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1978,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The \u201cidiopathic\u201d Fanconi syndrome occurs mostly sporadically, occasionally as an autosomal recessive trait. However, few instances of autosomal dominant inheritance have been reported. We described a father and son with the Fanconi syndrome, ie, with renal glycosuria, generalized aminoaciduria, phosphaturia, metabolic acidosis, and bone disease. No other causes of the Fanconi syndrome were found.<\/jats:p><jats:p>Both father and son developed end stage renal disease. Aminoaciduria in excess of that seen in renal insufficiency is shown by comparison with published data for amino acid excretion in uremia. Renal transplantation in the father has improved kidney function with no evidence of Fanconi syndrome. This family is unique in that there are no other reports of autosomal dominant Fanconi syndrome with progression to early renal failure.<\/jats:p>","DOI":"10.1002\/ajmg.1320020303","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T17:29:44Z","timestamp":1118510984000},"page":"225-232","source":"Crossref","is-referenced-by-count":21,"title":["Autosomal dominant Fanconi syndrome with early renal failure"],"prefix":"10.1002","volume":"2","author":[{"given":"Aaron L.","family":"Friedman","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carl W.","family":"Trygstad","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Russell W.","family":"Chesney","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John M.","family":"Opitz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,2]]},"reference":[{"key":"e_1_2_1_2_2","first-page":"1205","volume-title":"The Metabolic Basis of Inherited Disease","author":"Leaf A","year":"1966"},{"key":"e_1_2_1_3_2","doi-asserted-by":"publisher","DOI":"10.1021\/ac60139a006"},{"key":"e_1_2_1_4_2","doi-asserted-by":"crossref","first-page":"839","DOI":"10.1016\/S0021-9258(18)56901-5","article-title":"A photometric method for the determination of inulin in plasma and urine","volume":"178","author":"Roe JH","year":"1949","journal-title":"J Biol Chem"},{"key":"e_1_2_1_5_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI106476"},{"key":"e_1_2_1_6_2","first-page":"1315","volume-title":"Pediatrics","author":"Soriano JF","year":"1972"},{"key":"e_1_2_1_7_2","doi-asserted-by":"publisher","DOI":"10.1001\/archinte.126.5.855"},{"key":"e_1_2_1_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9343(66)90114-8"},{"key":"e_1_2_1_9_2","doi-asserted-by":"publisher","DOI":"10.1136\/adc.30.150.160"},{"key":"e_1_2_1_10_2","doi-asserted-by":"publisher","DOI":"10.1136\/adc.36.185.90"},{"key":"e_1_2_1_11_2","first-page":"387","article-title":"Hypophosphataemic osteomalacia and Fanconi syndrome of adult onset and dominant inheritance","volume":"179","author":"Smith R","year":"1976","journal-title":"Quart J Med"},{"key":"e_1_2_1_12_2","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9343(61)90163-2"},{"key":"e_1_2_1_13_2","first-page":"622","article-title":"Primare Tubulopathien. 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Ein Fall von idiopathischem gluko\u2010amino\u2010phosphat\u2010Diabetes (DeToni\u2010Debre\u2010Fanconi Syndrom)","volume":"16","author":"Illig von R","year":"1961","journal-title":"Helvet Paediatr Acta"},{"key":"e_1_2_1_14_2","doi-asserted-by":"publisher","DOI":"10.7326\/0003-4819-56-3-448"},{"key":"e_1_2_1_15_2","first-page":"43","article-title":"Nephrophatie familiale glomerulotubulaire avec syndrome de DeToni\u2010Debre\u2010Fanconi","volume":"25","author":"Neimann N","year":"1968","journal-title":"Arch Franc Pediatr"},{"key":"e_1_2_1_16_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(73)80155-6"},{"key":"e_1_2_1_17_2","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9343(74)90766-9"},{"key":"e_1_2_1_18_2","doi-asserted-by":"publisher","DOI":"10.1038\/ki.1976.18"},{"key":"e_1_2_1_19_2","first-page":"39","volume-title":"Amino Acid Metabolism and Its Disorders","author":"Scriver CR","year":"1973"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320020303","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320020303","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,12]],"date-time":"2023-11-12T23:07:43Z","timestamp":1699830463000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320020303"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1978,1]]},"references-count":18,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1978,1]]}},"alternative-id":["10.1002\/ajmg.1320020303"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320020303","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1978,1]]}}}