Results 251 to 260 of about 9,344 (281)
Some of the next articles are maybe not open access.
Treatment of cystinosis with cysteamine
The Journal of Pediatrics, 1979C v s T I N 0 S I S is a recessively inherited metabolic disorder characterized by an accumulation of nonprotein cystine within the lysosomes. 1 ! n the juvenile nephropathic form, the disease presents with tubular renal dysfunction and progressive glomerular damage, leading to end-stage renal failure and eventual death.
M.S. DeWolfe +2 more
openaire +3 more sources
Extrarenal complications of cystinosis.
Pediatric nephrology (Berlin, West), 2023R. Topaloğlu
semanticscholar +1 more source
PRENTAL DIAGNOSIS OF CYSTINOSIS
Obstetrical & Gynecological Survey, 1974Abstract We diagnosed cystinosis in an 18-week-old fetus on the basis of an increased content of nonprotein cystine in cultured amniotic-fluid cells.
Gerald S. Spear +9 more
openaire +4 more sources
Feeding problems in cystinosis
Pediatric Nephrology, 1998Nephropathic cystinosis, a rare autosomal recessive storage disease characterized by intracellular storage of free cystine due to a defect in lysosomal cystine transport, is the most common cause of Fanconi syndrome in childhood. Although manifestations of extrarenal organ involvement during the course of the disease are diverse, the spectrum of ...
Ewa Elenberg +3 more
openaire +3 more sources
Oral manifestations of cystinosis
Oral Surgery, Oral Medicine, Oral Pathology, 1973Abstract Cystinosis is a genetically determined metabolic disorder. It is characterized by the deposition of cystine crystals in several tissues, photophobia, and retardation of growth in addition to the characteristic signs of vitamin D-resistant rickets.
Mamoun Nazif, Mazloum Osman
openaire +3 more sources
Heterozygote studies in cystinosis
Clinica Chimica Acta, 1970Abstract The intracellular cystine in the leucocytes and cultured skin fibroblasts of heterozygotes for nephropathic cystinosis is primarily located in a granular cell fraction. Compartmentalization of cystine in a similar fraction has been previously shown for cystinosis homozygotes. The observations suggest that the primary metabolic derangement in
J. Edwin Seegmiller +3 more
openaire +3 more sources
Cystinosis: Status of research and treatment in India and the world
Journal of Biosciences, 2023Nikita Vashist +4 more
semanticscholar +1 more source
Hypercholesterolemia in children with cystinosis
Pediatric Nephrology, 1993Ten children with cystinosis had their diet, serum creatinine, and total cholesterol (averaged in 6-month blocks and normalized by calculating a z score (TCz)] monitored for a mean of 5 years. The TCz scores were elevated in boys (P < 0.01) but not girls (P = 0.67).
Jerome L. Murphy, Peggy C. Papathakis
openaire +3 more sources