Results 131 to 140 of about 1,000 (164)

Growth and pubertal development in nephropathic cystinosis

European Journal of Pediatrics, 1993
In a retrospective investigation growth and pubertal development were evaluated in 30 patients with nephropathic cystinosis. Growth was investigated during the stage of chronic renal insufficiency as well as after successful kidney transplantation and growth rates were related to kidney function.
L, Winkler, G, Offner, F, Krull, J, Brodehl   +3 more
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Efficacy of topical cysteamine in nephropathic cystinosis

British Journal of Ophthalmology, 2017
The aim of this study is to evaluate the efficacy of topical cysteamine 0.55% eye drops in the treatment of corneal cystine crystal deposits in patients with nephropathic cystinosis.Thirty-two patients with nephropathic cystinosis were prospectively included in the study.
Amal, Al-Hemidan, Samir S, Shoughy, Igor, Kozak, Khalid F, Tabbara   +3 more
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Distal vacuolar myopathy in nephropathic cystinosis

Annals of Neurology, 1994
AbstractNephropathic cystinosis is a lysosomal storage disorder leading to renal failure by age 10 years. Prolonged patient survival following renal transplantation has allowed the development of previously unknown long‐term complications. Muscle involvement has been reported in a single posttransplant cystinosis patient, but the range of clinical ...
L R, Charnas, C A, Luciano, M, Dalakas, R W, Gilliatt, I, Bernardini, K, Ishak, V A, Cwik, D, Fraker, T A, Brushart, W A, Gahl   +9 more
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Myopathy in two siblings with nephropathic cystinosis

European Journal of Neurology, 1998
Nephropathic cystinosis is a hereditary disorder characterized by a specific defect in the transport of cystine across the lysosomal membrane leading to an accumulation of protein‐free cystine in tissues including conjuctiva liver bone marrow and kidney. Renal transplantation is necessary because of renal failure.
, Kastrup, , Koeppen, , Schwechheimer, , Keidel, , Diener   +4 more
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Pituitary-Testicular Function in Nephropathic Cystinosis

Annals of Internal Medicine, 1993
To evaluate reproductive function in patients with cystinosis and in renal transplant recipients without cystinosis.Cross-sectional study.Clinical Center, National Institutes of Health.Ten male patients, 15 to 28 years old, with nephropathic cystinosis and renal allografts formed the study group; 11 renal transplant recipients who had a primary renal ...
C L, Chik, A, Friedman, G R, Merriam, W A, Gahl   +3 more
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Perioperative care of the patient with nephropathic cystinosis

Pediatric Anesthesia, 2004
SummaryCystinosis is an autosomal recessive disease that results in a defective integral membrane protein responsible for the transport of cystine out of lysosomes. This results in the accumulation of cystine in the lysosomes of almost every tissue, with subsequent formation of damaging crystals.
Theresa L, Ray, Joseph D, Tobias
openaire   +2 more sources

Nephropathic cystinosis.

Pediatrics in review, 1997
Nephropathic cystinosis is one of the only lysosomal storage diseases for which there is an effective therapy against the basic, pathologic process-cystine accumulation. Early diagnosis and therapy are critical to optimize the prognosis.
openaire   +1 more source

Nephropathic Cystinosis

American Journal of Ophthalmology, 1973
J, Read, M F, Goldberg, G, Fishman, I, Rosenthal   +3 more
openaire   +2 more sources

Nephropathic Cystinosis

2023
Anuradha A. S. Cooray, Amelia Le Page, Neluwa-Liyanage R. Indika, Udara D. Senarathne, Lilian Johnstone   +4 more
openaire   +1 more source

Nephropathic Cystinosis

Ophthalmology, 2006
Ekaterini T. Tsilou, Benjamin I. Rubin, George Reed, Rafael C. Caruso, Fumino Iwata, Joan Balog, William A. Gahl, Muriel I. Kaiser-Kupfer   +7 more
openaire   +1 more source