cystinosisn.

1949 Adv. Pediatrics 4 265 The cystinuria in cystinosis..is temporary and irregular in nature, and is never a particularly conspicuous feature of the disease.

1954 Proc. Royal Soc. Med. 47 882 This is a typical renal failure pattern, the presence of cystine being fully consistent with cystinosis.

1964 S. Duke-Elder Parsons' Dis. Eye (ed. 14) xvi. 219 Deposits of cystine may be associated with a generalized cystinosis, renal dwarfism and osteoporosis.

1973 Nature 3 Aug. 290/1 Hybridizing a fibroblast from a child with cystinosis with a non-cystinotic cell might elucidate the metabolism of cystine.

1983 D. J. Weatherall et al. Oxf. Textbk. Med. I. ix. 99/2 Cystinosis is not related to cystinuria; confusion has arisen in the past because the generalized amino aciduria, which is a component of the Fanconi syndrome induced by cystinosis, includes cystine and this amino acid was more easily detectable than most others before chromatographic methods became available.

1961 Lancet 21 Oct. 909/2 The demonstration of almost total lack of succinic dehydrogenase activity in fresh necropsy samples of cystinotic liver.

1978 Nature 26 Oct. 696/1 Recently fibroblasts from a cystinotic patient were partially depleted of lysosomal cystine after exposure to liposome-entrapped cysteamine.