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6. Clinical and laboratory findings in the oculocerebrorenal syndrome of Lowe, with special reference to growth and renal function. Charnas LR, Bernardini I, Rader D, Hoeg JM, Gahl WA. N Engl J Med; 1991 May 09; 324(19):1318-25. PubMed ID: 2017228 [Abstract] [Full Text] [Related]
7. Improved renal function in children with cystinosis treated with cysteamine. Markello TC, Bernardini IM, Gahl WA. N Engl J Med; 1993 Apr 22; 328(16):1157-62. PubMed ID: 8455682 [Abstract] [Full Text] [Related]
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11. [From gene to disease: cystinosis]. Levtchenko EN, Wilmer M, de Graaf-Hess AC, van den Heuvel LP, Blom H, Monnens LA. Ned Tijdschr Geneeskd; 2004 Mar 06; 148(10):476-8. PubMed ID: 15042893 [Abstract] [Full Text] [Related]
15. Cystinosis. Intracellular cystine depletion by aminothiols in vitro and in vivo. Thoene JG, Oshima RG, Crawhall JC, Olson DL, Schneider JA. J Clin Invest; 1976 Jul 06; 58(1):180-9. PubMed ID: 932205 [Abstract] [Full Text] [Related]
16. [Secondary L-carnitine deficiency in chronic hemodialysis patients]. Achenbach H, Würzberger G, Seim H, Löster H, Strauss B. Z Gesamte Inn Med; 1989 Jan 01; 44(1):18-22. PubMed ID: 2711712 [Abstract] [Full Text] [Related]
17. Chronic cardiomyopathy and weakness or acute coma in children with a defect in carnitine uptake. Stanley CA, DeLeeuw S, Coates PM, Vianey-Liaud C, Divry P, Bonnefont JP, Saudubray JM, Haymond M, Trefz FK, Breningstall GN. Ann Neurol; 1991 Nov 01; 30(5):709-16. PubMed ID: 1763895 [Abstract] [Full Text] [Related]
18. Effect of low dose supplementation of L-carnitine on lipid metabolism in hemodialyzed children. Glöggler A, Bulla M, Fürst P. Kidney Int Suppl; 1989 Nov 01; 27():S256-8. PubMed ID: 2636667 [Abstract] [Full Text] [Related]
19. A disorder of muscle lipid metabolism and myoglobinuria. Absence of carnitine palmityl transferase. Bank WJ, DiMauro S, Bonilla E, Capuzzi DM, Rowland LP. N Engl J Med; 1975 Feb 27; 292(9):443-9. PubMed ID: 123038 [Abstract] [Full Text] [Related]
20. Renal transport of amino acids in children with oculocerebrorenal syndrome. Manz F, Bremer HJ, Brodehl J. Helv Paediatr Acta; 1978 Apr 27; 33(1):37-44. PubMed ID: 669970 [Abstract] [Full Text] [Related] Page: [Next] [New Search]