Works matching DE "CYSTINOSIS"
Results: 170
Hereditary renal tubular disorders in Turkey: demographic, clinical, and laboratory features.
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- Clinical & Experimental Nephrology, 2011, v. 15, n. 1, p. 108, doi. 10.1007/s10157-010-0367-z
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- Article
Distribution of cystinosin-LKG in human tissues.
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- Histochemistry & Cell Biology, 2012, v. 138, n. 2, p. 351, doi. 10.1007/s00418-012-0958-8
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- Publication type:
- Article
Cystine accumulation attenuates insulin release from the pancreatic β-cell due to elevated oxidative stress and decreased ATP levels.
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- Journal of Physiology, 2015, v. 593, n. 23, p. 5167, doi. 10.1113/JP271237
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- Article
Craniofacial and dental findings in cystinosis.
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- Oral Diseases, 2010, v. 16, n. 5, p. 488, doi. 10.1111/j.1601-0825.2010.01662.x
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- Article
Hematological Manifestations of Nephropathic Cystinosis.
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- Acta Haematologica, 2008, v. 119, n. 3, p. 169, doi. 10.1159/000134222
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- Article
Nephropathic cystinosis with bone marrow involvement.
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- 2007
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- Publication type:
- Other
The bone marrow in hereditary cystinosis.
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- British Journal of Haematology, 2000, v. 111, n. 2, p. 385, doi. 10.1046/j.1365-2141.2000.02459.x
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- Publication type:
- Article
Cystinosin, the protein defective in cystinosis, is a H<sup>+</sup>-driven lysosomal cystine transporter.
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- EMBO Journal, 2001, v. 20, n. 21, p. 5940, doi. 10.1093/emboj/20.21.5940
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- Article
Behavioral profiles of children with infantile nephropathic cystinosis.
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- Developmental Medicine & Child Neurology, 2005, v. 47, n. 6, p. 403, doi. 10.1017/S0012162205000782
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- Article
Perioperative care of the patient with nephropathic cystinosis.
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- Pediatric Anesthesia, 2004, v. 14, n. 10, p. 878, doi. 10.1111/j.1460-9592.2004.01295.x
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- Publication type:
- Article
Pseudocyst of the Auricle: Successful Treatment with Intracartilaginous Trichloroacetic Acid and Button Bolsters.
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- Journal of Dermatologic Surgery & Oncology, 1991, v. 17, n. 3, p. 255, doi. 10.1111/j.1524-4725.1991.tb03639.x
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- Publication type:
- Article
FISH diagnosis of the common 57-kb deletion inCTNScausing cystinosis.
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- Human Genetics, 2004, v. 115, n. 6, p. 510, doi. 10.1007/s00439-004-1170-2
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- Publication type:
- Article
Association of Nephropathic Cystinosis and Pseudotumor Cerebri with Bilateral Duane Syndrome Type I.
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- Neuro-Ophthalmology, 2014, v. 38, n. 2, p. 74, doi. 10.3109/01658107.2013.874451
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- Publication type:
- Article
Nephropathic Cystinosis Presenting as Renal Fanconi Syndrome without Glycosuria.
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- Journal of Clinical & Diagnostic Research, 2015, v. 9, n. 3, p. 5, doi. 10.7860/JCDR/2015/10875.5692
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- Article
Cystinosis.
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- Annals of Internal Medicine, 1968, v. 68, n. 4, p. 883
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- Article
Nephropathic Cystinosis Mimicking Bartter Syndrome: a Novel Mutation.
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- 2018
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- Publication type:
- journal article
Gastrointestinal Manifestations of Nephropathic Cystinosis in Children.
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- Iranian Journal of Kidney Diseases, 2009, v. 3, n. 4, p. 218
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- Publication type:
- Article
Abstracts.
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- 1978
- Publication type:
- Abstract
Antioxidant Effect of Cysteamine in Brain Cortex of Young Rats.
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- Neurochemical Research, 2008, v. 33, n. 5, p. 737
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- Publication type:
- Article
Diversity of human hair pigmentation as studied by chemical analysis of eumelanin and pheomelanin.
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- Journal of the European Academy of Dermatology & Venereology, 2011, v. 25, n. 12, p. 1369, doi. 10.1111/j.1468-3083.2011.04278.x
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- Publication type:
- Article
Can Cystinosis Cause Coronary Artery Dilatation?
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- Pediatric Cardiology, 2006, v. 27, n. 2, p. 263, doi. 10.1007/s00246-005-1107-0
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- Publication type:
- Article
Poster Session 3: Drug Delivery.
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- 2008
- Publication type:
- Other
Chemistry.
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- 2007
- Publication type:
- Other
Clinicopathological features of ocular cystinosis.
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- Clinical & Experimental Ophthalmology, 2008, v. 36, n. 8, p. 778, doi. 10.1111/j.1442-9071.2008.01886.x
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- Publication type:
- Article
In vivo confocal microscopy and polarizing microscopy of the cornea in a patient with nephropathic cystinosis.
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- 2007
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- Publication type:
- Letter
Pharmacokinetics of cysteamine bitartrate following intraduodenal delivery.
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- Fundamental & Clinical Pharmacology, 2014, v. 28, n. 2, p. 136, doi. 10.1111/fcp.12009
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- Publication type:
- Article
Erratum: Pediatr Nephrol (2000) 15:7–10.
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- 2001
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- Publication type:
- Correction Notice
Polyuria and proteinuria in cystinosis have no impact on renal transplantation: A report of the North American Pediatric Renal Transplant Cooperative Study.
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- Pediatric Nephrology, 2000, v. 15, n. 1/2, p. 7, doi. 10.1007/s004670000429
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- Publication type:
- Article
Early development of the renal lesions in infantile cystinosis.
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- Pediatric Nephrology, 2000, v. 15, n. 1/2, p. 50, doi. 10.1007/PL00013448
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- Publication type:
- Article
Gastrostomy buttons for nutritional support in children with cystinosis.
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- Pediatric Nephrology, 2000, v. 14, n. 8/9, p. 833, doi. 10.1007/s004670000318
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- Publication type:
- Article
Distal myopathy in nephropathic cystinosis.
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- Pediatric Nephrology, 2000, v. 14, n. 1, p. 36, doi. 10.1007/s004670050009
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- Publication type:
- Article
Effects of pre- and postnatal cysteamine exposure on renal function in the rat.
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- Pediatric Nephrology, 1999, v. 13, n. 9, p. 812, doi. 10.1007/s004670050706
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- Publication type:
- Article
Diabetes mellitus in patients with infantile cystinosis after renal transplantation.
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- Pediatric Nephrology, 1999, v. 13, n. 6, p. 524, doi. 10.1007/s004670050651
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- Publication type:
- Article
Cerebral vascular complication and hyperhomocysteinemia in a cystinotic uremic child.
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- Pediatric Nephrology, 1999, v. 13, n. 1, p. 73, doi. 10.1007/s004670050567
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- Publication type:
- Article
The Fanconi syndrome of cystinosis: insights into the pathophysiology.
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- Pediatric Nephrology, 1998, v. 12, n. 6, p. 492, doi. 10.1007/s004670050495
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- Publication type:
- Article
Feeding problems in cystinosis.
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- Pediatric Nephrology, 1998, v. 12, n. 5, p. 365, doi. 10.1007/s004670050467
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- Publication type:
- Article
The effects of cysteamine on the upper gastrointestinal tract of children with cystinosis.
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- Pediatric Nephrology, 1997, v. 11, n. 5, p. 600, doi. 10.1007/s004670050345
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- Publication type:
- Article
A systematic literature review of cysteamine bitartrate in the treatment of nephropathic cystinosis.
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- 2017
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- Publication type:
- journal article
From the National Institutes of Health.
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- 1990
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- Publication type:
- journal article
Pregnancy-associated cardiomyopathy occurring in a young patient with nephropathic cystinosis.
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- Cardiology in the Young, 2010, v. 20, n. 2, p. 220, doi. 10.1017/S1047951110000053
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- Publication type:
- Article
Renal proximal tubular epithelium from patients with nephropathic cystinosis: Immortalized cell lines as in <em>vitro</em> model systems.
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- Kidney International, 1995, v. 48, n. 2, p. 536, doi. 10.1111/1523-1755.ep15022919
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- Publication type:
- Article
Nephropathic Infantile Form of Cystinosis About One Case.
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- Fetal & Pediatric Pathology, 2013, v. 32, n. 1, p. 66, doi. 10.3109/15513815.2012.671445
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- Publication type:
- Article
Successful treatment of respiratory dysfunction in cystinosis by nocturnal non-invasive positive pressure ventilation.
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- Clinical Nephrology, 2006, v. 66, n. 4, p. 306, doi. 10.5414/CNP66306
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- Publication type:
- Article
Mood and illness experiences of adults with cystinosis.
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- Renal Failure, 2015, v. 37, n. 5, p. 835, doi. 10.3109/0886022X.2015.1015391
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- Publication type:
- Article
A Rare Case of Cystinosis Presenting with Alkalosis.
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- Renal Failure, 2013, v. 35, n. 2, p. 279, doi. 10.3109/0886022X.2012.745116
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- Publication type:
- Article
Rare Presentation of Cystinosis Mimicking Bartter's Syndrome: Reports of Two Patients and Review of the Literature.
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- Renal Failure, 2010, v. 32, n. 2, p. 277, doi. 10.3109/08860221003592804
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- Publication type:
- Article
Pharmacokinetics of enteric-coated cysteamine bitartrate in healthy adults: a pilot study.
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- British Journal of Clinical Pharmacology, 2010, v. 70, n. 3, p. 376, doi. 10.1111/j.1365-2125.2010.03721.x
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- Publication type:
- Article
Pharmacokinetics of cysteamine bitartrate following gastrointestinal infusion.
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- British Journal of Clinical Pharmacology, 2007, v. 63, n. 1, p. 36, doi. 10.1111/j.1365-2125.2006.02734.x
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- Publication type:
- Article
Steady-state pharmacokinetics and pharmacodynamics of cysteamine bitartrate in paediatric nephropathic cystinosis patients.
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- British Journal of Clinical Pharmacology, 2003, v. 56, n. 5, p. 520, doi. 10.1046/j.1365-2125.2003.01927.x
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- Publication type:
- Article
A study of the relative bioavailability of cysteamine hydrochloride, cysteamine bitartrate and phosphocysteamine in healthy adult male volunteers.
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- British Journal of Clinical Pharmacology, 1999, v. 47, n. 1, doi. 10.1046/j.1365-2125.1999.00844.x
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- Publication type:
- Article