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THE NEW SOUTH WALES REGISTER OF CYSTINURICS: FIRST REPORT JANUARY TO DECEMBER, 1971
Author(s) -
Turner Brian,
Smith Arabella
Publication year - 1973
Publication title -
medical journal of australia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.904
H-Index - 131
eISSN - 1326-5377
pISSN - 0025-729X
DOI - 10.5694/j.1326-5377.1973.tb129906.x
Subject(s) - register (sociolinguistics) , cystinuria , medicine , pediatrics , term (time) , demography , family medicine , linguistics , philosophy , cystine , chemistry , cysteine , enzyme , physics , quantum mechanics , sociology , biochemistry
To test the validity of the presymptomatic diagnosis of cystinuria and to learn more of the long term history of the condition and the value of prophylactic treatment, a register of known symptomatic cystinurics and presymptomatic cysti‐ nurics has been established. It is hoped to maintain a long‐term follow up of these patients. One hundred and one known homozygous cystinurics have been registered. The high morbidity of the condition is exemplified by the histories of the known stone‐forming individuals.