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- W2000630720 abstract "MALACIC bone disease in association with renal glycosuria, aminoaciduria, hyperphosphaturia and increased excretion of organic acids is a rare disorder known as the Fanconi or DeToni-Fanconi syndrome. Although this apparently inborn error of metabolism hasbeen mostfrequently identified with resistant rickets, several recent articles have associated thesyndrome with adult osteomalacia. The bizarre combination of metabolic disordersassociated with renal tubular defects is of general interest, for study of these abnormalities contributes to basic understanding of amino-acid metabolism, acid-base balance, tubular reabsorptive mechanisms and bone and mineral metabolism. This investigation is concerned mainly with the last, for lack of identification of the cause of the skeletal demineralization has impeded the application of universally effective therapeutic measures. Various facets of the Fanconi syndrome have been developed in several comprehensive papers, notable among these being the reports of McCune, Mason and Clark (1), Stowers and Dent (2), Anderson, Miller and Kenny (3), Milne, Stanbury and Thomson (4), and Linder, Bull and Grayce (5)." @default.
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- W2000630720 date "1954-04-01" @default.
- W2000630720 modified "2023-09-23" @default.
- W2000630720 title "STUDY OF THE MECHANISM OF BONE DISEASE IN HYPOPHOSPHATEMIC GLYCOSURIC OSTEOMALACIA*" @default.
- W2000630720 doi "https://doi.org/10.1210/jcem-14-4-365" @default.
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