Results 171 to 180 of about 4,253 (204)
Some of the next articles are maybe not open access.
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
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
Update on nephropathic cystinosis
Pediatric Nephrology, 1990The 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
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
Cystinosis is a recessively inherited disorder characterized by an accumulation of free cystine within lysosomes.
openaire +3 more sources
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
openaire +3 more sources
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
openaire +3 more sources
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
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
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
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