Literature DB >> 9286148

Nephropathic cystinosis.

W A Gahl1.   

Abstract

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.

Entities:  

Mesh：

Year:  1997        PMID： 9286148     DOI： 10.1542/pir.18-9-302

Source DB:  PubMed          Journal:  Pediatr Rev        ISSN： 0191-9601


  8 in total

1.  Cystinosis as a cause of noncirrhotic portal hypertension.

Authors:  Simona Rossi; Steven K Herrine; Victor J Navarro
Journal:  Dig Dis Sci       Date:  2005-07       Impact factor: 3.199

2.  Craniofacial and dental findings in cystinosis.

Authors:  C W Bassim; P Gautam; D L Domingo; J Z Balog; J P Guadagnini; W A Gahl; T C Hart
Journal:  Oral Dis       Date:  2010-03-09       Impact factor: 3.511

3.  A new mutation in two siblings with cystinosis presenting with Bartter syndrome.

Authors:  Marco Pennesi; Federico Marchetti; Sergio Crovella; Francesca Boaretto; Laura Travan; Marzia Lazzerini; Elena Neri; Alessandro Ventura
Journal:  Pediatr Nephrol       Date:  2004-12-04       Impact factor: 3.714

Review 4.  Nephropathic cystinosis: late complications of a multisystemic disease.

Authors:  Galina Nesterova; William Gahl
Journal:  Pediatr Nephrol       Date:  2008-06       Impact factor: 3.714

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

Authors:  Michael R Bendel-Stenzel; Julia Steinke; Ranjan Dohil; Youngki Kim
Journal:  Pediatr Nephrol       Date:  2007-08-01       Impact factor: 3.714

6.  Cystinosis presenting with findings of Bartter syndrome.

Authors:  Behzat Özkan; Atilla Çayır; Celalettin Koşan; Handan Alp
Journal:  J Clin Res Pediatr Endocrinol       Date:  2011-06-08

Review 7.  Cystinosis: the evolution of a treatable disease.

Authors:  Galina Nesterova; William A Gahl
Journal:  Pediatr Nephrol       Date:  2012-08-18       Impact factor: 3.714

8.  Long-term tracking of neurological complications of encephalopathy and myopathy in a patient with nephropathic cystinosis: a case report and review of the literature.

Authors:  Marcus Müller; Andrea Baumeier; E B Ringelstein; I W Husstedt
Journal:  J Med Case Rep       Date:  2008-07-18
  8 in total

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