Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Benign cystinosis"'
Publikováno v:
Cornea. 15(1)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::11817c001b82b2325df13a3f8d66c802
https://pubmed.ncbi.nlm.nih.gov/8907390
https://pubmed.ncbi.nlm.nih.gov/8907390
Autor:
Vernon G. Wong, Joseph D. Schulman, J. Edwin Seegmiller, Toichiro Kuwabara, Richard F. Brubaker
Publikováno v:
The American Journal of Medicine. 49:546-550
Benign cystinosis is an autosomal recessive disorder characterized by the presence of cystine crystals in the eye and the bone marrow. There are no associated renal or peripheral retinal abnormalities which are typical of nephropathic cystinosis. Pat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ee9ce5eb02484c38d1549957a68f3fb7
https://doi.org/10.1016/s0002-9343(70)80049-3
https://doi.org/10.1016/s0002-9343(70)80049-3
Publikováno v:
Klinische Monatsblätter für Augenheilkunde. 177:324-325
Cystinosis is a rare, autosomally and recessively inherited disorder of amino-acid metabolism with ocular involvement. Four patients with this disease are reported on. The clinical signs of the first patient, who had nephropathic cystinosis, are comp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::12ce62527e533820839c6f7f2edb6c76
https://doi.org/10.1055/s-2008-1057651
https://doi.org/10.1055/s-2008-1057651