A patient with cystinosis presenting transient features of Bartter syndrome
The Turkish Journal of Pediatrics, 2006 A 16-month-old boy was admitted to the clinic because of vomiting and growth failure. His weight and height measurements were under the fifth percentile. He had fair hair and skin, enlarged wrists and rachitic rosaries.
Bilal Yildiz +5 more
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Immunolocalization of Cystinosin, the Protein Defective in Cystinosis [PDF]
, 2002 Mushfequr R. Haq +6 more
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The evaluation and treatment of gastrointestinal disease in children with cystinosis receiving cysteamine [PDF]
, 2003 Ranjan Dohil +4 more
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Steady‐state pharmacokinetics and pharmacodynamics of cysteamine bitartrate in paediatric nephropathic cystinosis patients [PDF]
, 2003 Eric B. Belldina +4 more
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Cystinosis. A clinicopathological conference. 'From toddlers to twenties and beyond' Adult-Paediatric Nephrology Interface Meeting, Manchester 2001 [PDF]
, 2003 Rachel Middleton +4 more
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Bone marrow findings in hereditary cystinosis with renal failure [PDF]
, 2004 John Quinn, D Royston, Philip Murphy
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An international cohort study spanning five decades assessed outcomes of nephropathic cystinosis.
Kidney International, 2021 F. Emma +25 more
semanticscholar +1 more source
Comparison of Cystine Determination in Mixed Leukocytes vs Polymorphonuclear Leukocytes for Diagnosis of Cystinosis and Monitoring of Cysteamine Therapy [PDF]
, 2004 Elena Levtchenko +5 more
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High cystine in platelets from patients with nephropathic cystinosis: a chemical, ultrastructural, and functional evaluation [PDF]
, 2005 Lale Olcay +7 more
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Pediatric cystinosis: Corneal cystine deposits and papilledema in a 4-year-old: A case report. [PDF]
Med Int (Lond)Choudhary DS +4 more
europepmc +1 more source