Infantile nephropathic cystinosis
Open Access
- 1 March 2008
- journal article
- case report
- Published by Elsevier BV in Kidney International
- Vol. 73 (6), 782-786
- https://doi.org/10.1038/sj.ki.5002730
Abstract
No abstract availableKeywords
This publication has 18 references indexed in Scilit:
- A new mutation in two siblings with cystinosis presenting with Bartter syndromePediatric Nephrology, 2004
- Intralysosomal Cystine Accumulation in Mice Lacking Cystinosin, the Protein Defective in CystinosisMolecular and Cellular Biology, 2002
- CystinosisThe New England Journal of Medicine, 2002
- Ocular Nonnephropathic Cystinosis: Clinical, Biochemical, and Molecular CorrelationsPediatric Research, 2000
- Multinucleated podocytes in a child with nephrotic syndrome and Fanconi's syndrome: A unique clue to the diagnosisAmerican Journal of Kidney Diseases, 1999
- The Fanconi syndrome of cystinosis: insights into the pathophysiologyPediatric Nephrology, 1998
- Early-onset chronic renal failure as a presentation of infantile nephropathic cystinosisPediatric Nephrology, 1995
- Role of adenosine triphosphate (ATP) and NaK ATPase in the inhibition of proximal tubule transport with intracellular cystine loading.JCI Insight, 1991
- Cystinosis Presenting with Features Suggesting Bartter SyndromeClinical Pediatrics, 1985
- The Various Renal Manifestations of the Nephropathic Form of CystinosisAmerican Journal of Nephrology, 1984