Premium
Cystinosis: A defect of lysosomal cystine efflux
Author(s) -
Schneider Jerry A.
Publication year - 1985
Publication title -
bioessays
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.175
H-Index - 184
eISSN - 1521-1878
pISSN - 0265-9247
DOI - 10.1002/bies.950020406
Subject(s) - cystinosis , cystine , efflux , biology , medicine , physiology , genetics , biochemistry , enzyme , cysteine
The metabolic defect which results in the accumulation of cystine within tissues of children with the recessively inherited disease cystinosis has baffled investigators for almost half a century. Investigations by numerous laboratories have finally culminated in the delineation of the basic defect in this unusual disorder.