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Appendicitis in a Child With Cystinosis
Archives of Surgery, 1968CHILDREN with cystinosis rarely live beyond 10 years of age. 1-3 Because of their early death and the rarity of this disease it is not surprising that there have been no previous reports (to our knowledge) of appendicitis occurring in children with cystinosis.
Jerry A. Schneider+2 more
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Cardiomyopathy in a Male with Cystinosis
Cardiovascular Pathology, 1997Cystinosis is a lysosomal storage disease classically associated with renal failure, photophobia, and hypothyroidism. Multi-organ dysfunction tends to develop over time, a factor of increasing significance as patient survival improves. Herein, we describe a male patient with cystinosis who developed a restrictive cardiomyopathy associated with ...
D Silverstein+3 more
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Acta Clinica Belgica, 2016
Cystinosis is a rare, autosomal recessive inherited lysosomal storage disease. It is the most frequent and potentially treatable cause of the inherited renal Fanconi syndrome. If left untreated, renal function rapidly deteriorates towards end-stage renal disease by the end of the first decade of life.
Maria Van Dyck+5 more
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Cystinosis is a rare, autosomal recessive inherited lysosomal storage disease. It is the most frequent and potentially treatable cause of the inherited renal Fanconi syndrome. If left untreated, renal function rapidly deteriorates towards end-stage renal disease by the end of the first decade of life.
Maria Van Dyck+5 more
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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
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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
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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
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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
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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
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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
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