Results 241 to 250 of about 9,344 (281)
Some of the next articles are maybe not open access.
Pregnancy in cystinosis patients with chronic kidney disease: A European case series
Journal of Inherited Metabolic Disease, 2022Cystinosis is a rare autosomal recessive disease leading to end‐stage renal disease within the second or third decade of life. Since the era of specific treatment with cysteamine, prognosis has substantially improved and pregnancy becomes an increasing ...
A. Servais +8 more
semanticscholar +1 more source
Corneal Densitometry to Assess the Corneal Cystine Deposits in Patients With Cystinosis
Cornea, 2022Purpose: The purpose of this study was to assess the suitability of corneal densitometry measurements obtained with Scheimpflug imaging in estimating the corneal changes caused by cystine deposits in the cornea in patients with cystinosis.
S. Biswas +2 more
semanticscholar +1 more source
Cystinosis and the Fanconi Syndrome
Pediatric Clinics of North America, 1976Cystinosis 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
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
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
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
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
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
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