Results 191 to 200 of about 7,589 (245)
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Cystinosis

New England Journal of Medicine, 2002
Jess G. Thoene   +2 more
openaire   +5 more sources

CYSTINOSIS IN AN ADULT [PDF]

open access: possibleJournal of the American Medical Association, 1957
• In contrast to the disease in children, which is usually fatal, cystinosis (deposits of cystine crystals in tissues of the body) in the two reported instances occurring in adults was a relatively benign condition. This condition, sometimes called Lignac-Fanconi syndrome, should not be confused with benign cystinuria of adults, in which the cystine ...
Toichiro Kuwabara   +4 more
openaire   +2 more sources

Cystinosis and the Fanconi Syndrome

Pediatric Clinics of North America, 1976
Cystinosis is a recessively inherited metabolic disorder characterized biochemically by a high intracellular content of free (nonprotein) cystine which appears to be compartmentalized within lysosomes. This results in crystal deposition in the cornea, conjunctiva, bone marrow, lymph nodes, leukocytes, and internal organs.
Joseph D. Schulman, Jerry A. Schneider
openaire   +3 more sources

Cystinosis

Journal of Inherited Metabolic Disease, 1995
SummaryNephropathic cystinosis is an autosomal recessive inborn error of metabolism characterized by the lysosomal storage of the disulphide amino acid cystine. It produces a variety of clinical manifestations including failure to thrive, the renal Fanconi syndrome, eye findings, and end‐stage renal disease.
openaire   +3 more sources

Hypothyroidism in cystinosis

American Journal of Roentgenology, 1977
It has recently been shown that hypothyroidism complicates cystinosis. The radiographic bone changes of hypothyroidism (retarded skeletal age) cannot be detected while the patient has overt rickets, since the secondary ossification centers are not ossified.
Robert L. Lebowitz, M Grunebaum
openaire   +3 more sources

Therapy of Cystinosis

New England Journal of Medicine, 1985
Cystinosis is a recessively inherited disorder characterized by an accumulation of free cystine within lysosomes.
openaire   +3 more sources

Update on nephropathic cystinosis

Pediatric Nephrology, 1990
The cystine that accumulates within cystinotic lysosomes comes primarily from proteins which have been degraded within this organelle. The individual amino acids have specific transport mechanisms to exit the lysosome. The lysosomal cystine transporter is defective in all types of cystinosis.
Jerry A. Schneider   +2 more
openaire   +3 more sources

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