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Literature DB >> 15747161

First NIH/Office of Rare Diseases Conference on Cystinosis: past, present, and future.

Robert Kleta¹, Frederick Kaskel, Ranjan Dohil, Paul Goodyer, Lisa M Guay-Woodford, Erik Harms, Julie R Ingelfinger, Vera H Koch, Craig B Langman, Mary B Leonard, Roslyn B Mannon, Minnie Sarwal, Jerry A Schneider, Flemming Skovby, Barbara C Sonies, Jess G Thoene, Doris A Trauner, William A Gahl.

Abstract

Entities: Disease

Mesh：

Year: 2005 PMID： 15747161 DOI： 10.1007/s00467-004-1777-5

Source DB: PubMed Journal: Pediatr Nephrol ISSN： 0931-041X Impact factor: 3.714

× No keyword cloud information.

1 in total

Review 1. Cystinosis.

Authors: William A Gahl; Jess G Thoene; Jerry A Schneider
Journal: N Engl J Med Date: 2002-07-11 Impact factor: 91.245

1 in total

14 in total

1. Clinical utility gene card for: cystinosis.

Authors: Elena Levtchenko; Lambertus van den Heuvel; Francesco Emma; Corinne Antignac
Journal: Eur J Hum Genet Date: 2013-09-18 Impact factor: 4.246

Review 2. Genetic testing in renal disease.

Authors: Detlef Bockenhauer; Alan J Medlar; Emma Ashton; Robert Kleta; Nick Lench
Journal: Pediatr Nephrol Date: 2011-05-27 Impact factor: 3.714

Review 3. The blind kidney: disorders affecting kidneys and eyes.

Authors: Isabelle Russell-Eggitt; Detlef Bockenhauer
Journal: Pediatr Nephrol Date: 2013-01-24 Impact factor: 3.714

4. Strict cysteamine dose regimen is required to prevent nocturnal cystine accumulation in cystinosis.

Authors: Elena N Levtchenko; Carin M van Dael; Addy C de Graaf-Hess; Martijn J G Wilmer; Lambertus P van den Heuvel; Leo A Monnens; Henk J Blom
Journal: Pediatr Nephrol Date: 2005-10-27 Impact factor: 3.714

5. Cystinosis as a lysosomal storage disease with multiple mutant alleles: Phenotypic-genotypic correlations.

Authors: Mohammad Al-Haggar
Journal: World J Nephrol Date: 2013-11-06

6. A randomized controlled crossover trial with delayed-release cysteamine bitartrate in nephropathic cystinosis: effectiveness on white blood cell cystine levels and comparison of safety.

Authors: Craig B Langman; Larry A Greenbaum; Minnie Sarwal; Paul Grimm; Patrick Niaudet; Georges Deschênes; Elisabeth Cornelissen; Denis Morin; Pierre Cochat; Debora Matossian; Segolene Gaillard; Mary Jo Bagger; Patrice Rioux
Journal: Clin J Am Soc Nephrol Date: 2012-05-03 Impact factor: 8.237

First NIH/Office of Rare Diseases Conference on Cystinosis: past, present, and future.

Review 1. Cystinosis.

1. Clinical utility gene card for: cystinosis.

Review 2. Genetic testing in renal disease.

Review 3. The blind kidney: disorders affecting kidneys and eyes.

4. Strict cysteamine dose regimen is required to prevent nocturnal cystine accumulation in cystinosis.

5. Cystinosis as a lysosomal storage disease with multiple mutant alleles: Phenotypic-genotypic correlations.

6. A randomized controlled crossover trial with delayed-release cysteamine bitartrate in nephropathic cystinosis: effectiveness on white blood cell cystine levels and comparison of safety.

7. Renal cell carcinoma in a patient with cystinosis and inflammatory bowel disease: a case report.

Review 8. Nephropathic cystinosis: late complications of a multisystemic disease.

9. Intravenous delivery of cysteamine for the treatment of cystinosis: association with hepatotoxicity.

10. Treatment of Inherited Eye Defects by Systemic Hematopoietic Stem Cell Transplantation.