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  • Title: [Hyperaminoaciduria: Toni-Fanconi and Lowe- syndrome].
    Author: Cantani A, Mastrantoni F.
    Journal: Riv Eur Sci Med Farmacol; 1989 Apr; 11(2):123-8. PubMed ID: 2678306.
    Abstract:
    Aminoaciduria is a normal finding, since normal subjects excrete finite amounts of amino acids, the pattern of amino acid excretion varying greatly among individuals. Hyperaminoaciduria can be defined in different ways: by an excessive fraction of total urinary nitrogen; by an increase in the total 24-hour excretion value; or by an exaggerated renal clearance. A generalized aminoaciduria with acidosis and hypophosphatemia distinguishes the De Toni-Fanconi and Lowe syndromes, both of which will be herewith discussed.
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