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Appendicitis in a Child With Cystinosis

Archives of Surgery, 1968
CHILDREN 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
openaire   +3 more sources

Cardiomyopathy in a Male with Cystinosis

Cardiovascular Pathology, 1997
Cystinosis 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
openaire   +3 more sources

Cystinosis: a new perspective

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
openaire   +3 more sources

Feeding problems in cystinosis

Pediatric Nephrology, 1998
Nephropathic 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, 1973
Abstract 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, 1970
Abstract 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, 1993
Ten 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

PRENTAL DIAGNOSIS OF CYSTINOSIS

Obstetrical & Gynecological Survey, 1974
Abstract 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

Treatment of cystinosis with cysteamine

The Journal of Pediatrics, 1979
C 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

Cystinosis

The Journal of Pediatrics, 1955
S, ISRAELS, H J, SUDERMAN
openaire   +2 more sources

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