10 families with cystinuria were investigated by measuring: (a) quantitative 24 hr urinary excretion of amino acids by column chromatography; (b) endogenous renal clearances of amino acids and creatinine; (c) intestinal uptake of 34C-labeled L-cystine, L-lysine, and L-arginine using jejunal mucosal biopsies; (d) oral cystine loading tests. All four of these were studied in the probands and the first two in a large number of the family members.
Claude L. Morin, Margaret W. Thompson, Sanford H. Jackson, Andrew Sass-Kortsak
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The antioxidant l-Ergothioneine prevents cystine lithiasis in the Slc7a9(-/-) mouse model of cystinuria.
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A Spitzer, ED Avner |
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Dünndarm A
F Bazzoli, R Böhmer, WF Caspary, H Dombrowski, B Eckhardt, B Elsenhans, A Encke, A Ferguson, W Forth, H Fromm, A Gangl, S Gutschmidt, U Hopfer, GJ Kreijs, B Lembcke, KH zum Büschenfelde, G Mödder, G Nell, HF Otto, H Peerenboom, G Rehner, G Rettenmaier, EO Riecken, JW Robinson, K Rommel, H Ruppin, J Seifert, KH Soergel, S Strobel, L Vollrath, R Wanitschke, HJ Weis |
1983 | |
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T Kato, N Mizutani, M Ban |
European Journal of Pediatrics | 1982 |
Cystinuria: The disease and its models
AG Craan |
Life Sciences | 1981 |
Transport and Inherited Disease
NR Belton, C Toothill |
1981 | |
The role of glutathione turnover in the apparent renal secretion of cystine
OW Griffith |
The Journal of biological chemistry | 1981 |
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M Labeeuw, C Gerbaulet, N Pozet, P Zech, J Traeger |
Urological Research | 1981 |
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JW Foreman, SM Hwang, S Segal |
Metabolism | 1980 |
Heterozygous Cystinuria and Calcium Oxalate Urolithiasis
MI Resnick, HO Goodman, WH Boyce |
The Journal of Urology | 1979 |
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S Kelly, CE Scriver |
American Journal of Medical Genetics | 1978 |
Familial enteropathy: A syndrome of protracted diarrhea from birth, failure to thrive, and hypoplastic villus atrophy
GP Davidson, E Cutz, JR Hamilton, DG Gall |
Gastroenterology | 1978 |
Transport Interaction of Cystine and Dibasic Amino Acids in Renal Brush Border Vesicles
S Segal, PD McNamara, LM Pepe |
Science | 1977 |
Small bowel mucosal dysfunction in patients with cystic fibrosis
CL Morin, CC Roy, R Lasalle, A Bonin |
The Journal of Pediatrics | 1976 |
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O Simell, J Perheentupa, J Rapola, JK Visakorpi, LE Eskelin |
The American Journal of Medicine | 1975 |
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Clinica Chimica Acta | 1975 |
The Role of Cyclic Nucleotides in Central Synaptic Function / Renal Transport of Amino Acids
FE Bloom, S Silbernagl, EC Foulkes, P Deetjen |
1975 | |
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R Minami, K Olek, P Wardenbach |
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M Ekberg, JO Jeppsson, T Denneberg |
Acta Medica Scandinavica | 1974 |
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P Jacobsen, M Mikkelsen, F Rosleff |
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