Results 141 to 150 of about 2,800 (183)

Update on nephropathic cystinosis

Pediatric Nephrology, 1990
The 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.
J A, Schneider, B, Katz, R B, Melles
openaire   +2 more sources

Cysteamin eyedrops in three patients with nephropathic cystinosis

Documenta Ophthalmologica, 1996
Cysteamin-PO4 eyedrops 5 mMol/l, given to three patients with nephropathic cystinosis brought a great relief from their photophobia and in two of the three patients a measurable decrease in the glare was ...
Jansonius, NM, ReitsmaBierens, WCC, Reitsma-Bierens, W.C.C., Blanksma, L.J., Blanksma, LJ, Jansonius, N.M., Jansonius, N.M.; id_orcid   +6 more
exaly   +2 more sources

Swallowing Dysfunction in Nephropathic Cystinosis

New England Journal of Medicine, 1990
Nephropathic cystinosis causes renal failure in most patients at approximately 10 years of age. This can be prevented or retarded by cystine-depleting therapy with oral cysteamine. Many patients who do not receive adequate cysteamine therapy undergo renal transplantation, but the accumulation of cystine continues in other organs, resulting in various ...
B C, Sonies, E F, Ekman, H C, Andersson, M D, Adamson, S G, Kaler, T C, Markello, W A, Gahl   +6 more
openaire   +2 more sources

Circulating cryoglobulins in nephropathic cystinosis

The Journal of Pediatrics, 1981
occurred without specific drug therapy. Progressive disease is often difficult to treat because of the frequently encountered pattern of drug resistance of the nontuberculous mycobacterial organisms. As the nontuberculous mycobacterial organisms are usually of low virulence, children with serious infections should be suspected of having underlying ...
J W, Foreman, M, Yudkoff, L, Yang, S, Segal   +3 more
openaire   +2 more sources

Muscle wasting and adipose tissue browning in infantile nephropathic cystinosis [PDF]

Journal of Cachexia, Sarcopenia and Muscle, 2016
BackgroundMuscle wasting is a common complication in patients with infantile nephropathic cystinosis, but its mechanism and association with energy metabolism is not known.
Ping Zhou, Jianhua Shao, Wei Ding
exaly   +2 more sources

Corneal Sensitivity in Nephropathic Cystinosis

American Journal of Ophthalmology, 1987
We measured corneal sensitivity in 14 patients with infantile nephropathic cystinosis and in 13 age-matched controls. All patients with cystinosis had the pathognomonic anterior segment findings of crystal deposition within conjunctiva and cornea.
B, Katz, R B, Melles, J A, Schneider
openaire   +2 more sources

Pyroglutamic aciduria and nephropathic cystinosis

Journal of Inherited Metabolic Disease, 1999
Nephropatic cystinosis (NC; McKusick 219800) is caused by impaired cystine transport across the lysosomal membrane, resulting in renal tubular Fanconi syndrome and later evolving to chronic renal failure. To prevent the progression to renal failure, treatment with cysteamine is currently used for lowering parenchymal cystine storage.
C, Rizzo, A, Ribes, A, Pastore, C, Dionisi-Vici, M, Greco, G, Rizzoni, G, Federici   +6 more
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Hematological Manifestations of Nephropathic Cystinosis

Acta Haematologica, 2008
Pancytopenia is an uncommon manifestation of cystinosis, a congenital lysosomal storage disease. We describe a 34-year-old patient with nephropathic cystinosis with multisystem involvement who developed progressive bone marrow failure after renal transplantation.
Ashkan, Emadi, Kathleen H, Burns, Bradley, Confer, Michael J, Borowitz, Michael B, Streiff   +4 more
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Medullary nephrocalcinosis in nephropathic cystinosis

Pediatric Nephrology, 1995
Children with nephropathic cystinosis excrete large amounts of calcium and phosphate due to renal tubular Fanconi syndrome, and also receive substantial supplements of phosphate and alkalinizing agents. Since these constitute risk factors for nephrocalcinosis, we evaluated 41 children age 2 months to 15 years with nephropathic cystinosis and good renal
D S, Theodoropoulos, T H, Shawker, C, Heinrichs, W A, Gahl   +3 more
openaire   +2 more sources

Glare Disability in Nephropathic Cystinosis

Archives of Ophthalmology, 1987
Cystinosis is a rare metabolic disorder in which nonprotein cystine accumulates within lysosomes due to a defect in lysosomal cystine transport. Although cystine accumulates within most ocular tissues, patients with cystinosis generally complain only of photophobia and glare.
B, Katz, R B, Melles, J A, Schneider
openaire   +2 more sources