Cystinosis and its treatment

Pharmaceutical Journal

Volumn 269, Issue 7221, 2002, Pages 615-616

  Cairns, D ^a   Anderson, R J ^a   Coulthard, M ^a   Terry, J ^a  

^a UNIVERSITY OF SUNDERLAND   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

BREATHASSURE; CARNITINE; CLOBAZAM; CYCLOSPORIN; CYSTEAMINE DERIVATIVE; CYSTEINE; ELECTROLYTE; GLIBENCLAMIDE; GLUCOSE; HUMAN GROWTH HORMONE; INDOMETACIN; MERCAPTAMINE; PREDNISOLONE; PRODRUG; THYROXINE; VALPROIC ACID;

ANIMAL CELL; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHO CELL; COMORBIDITY; CORNEA TRANSPLANTATION; CYSTINOSIS; DRUG FORMULATION; DRUG MECHANISM; DRUG TARGETING; FATALITY; GASTROINTESTINAL SYMPTOM; HALITOSIS; HUMAN; KIDNEY DISEASE; KIDNEY TRANSPLANTATION; NAUSEA AND VOMITING; NEUTROPENIA; NONHUMAN; PATHOGENESIS; PATIENT COMPLIANCE;

EID: 0037180116     PISSN: 00316873     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (14)

1. Manz F, Gretz N. Cystinosis in the Federal Republic of Germany. Coordination and Analysis of the data. J Inher Metab Dis 1985;8:2-4.
2. Ebbensen F, Mygind KI, Holck F. Infantile nephropathic cystinosis in Denmark. Dan Med Bull 1976;23:216-22.
3. Bois E, Feingold J, Frenay P, Briard ML. Infantile cystinosis in France: genetics, incidence, geographic distributiion. J Med Genet 1976;13:434-8.
4. Gahl WA, Thoene JG, Schenieder JA. Cystinosis: a disorder of lysosomal membrane transport. In: Scriver CR, Beaudet AL, Sly WS, Valle D, Vogelstein B. (editors). The metabolic and molecular basis of inherited disease (8th ed). New York: McGraw-Hill;2001. pp5085-108.
5. Town M, Antignac C. Molecular characterization of CTNS deletions in nephroapathic cystinosis: development of a PCR-based detection assay Am J Hum Genet 1999;65:353-9.
6. Forestier L, Jean G, Attard M, Cherqui S, Lewis C, van't Hoff W, et al. Oral carnitine therapy in children with cystinosis and renal Fanconi syndrome. J Clin Invest 1988; 81:549-60.
7. Betend B, Pugeaut R, David L, Hermier M, Francois R. Paediatric cystinosis: an experience with indomethacin therapy. Paediatrie 1982;37:31-6.
8. Haycock GB, Al-Dahan J, Mak RHK, Chantler C. Effect of indomethacin on clinical progress and renal function in cystinosis. Arch Dis Child 1982;57:934-9.
9. Gahl WA, Bernardini I, Dalakas M, Rizzo WB, Harper GS, Hoeg JM. Oral carnitine therapy in children with cystinosis and renal Fanconi syndrome. J Clin Invest 1988;81:549-60.
10. Haffner D, Wuhl E, Schaefer F, Nissel R, Tonshoff B, Mehls O. Factors predictive of the short- and long-term efficacy of growth hormone treatment in prepubertal children with chronic renal failure. J Am Soc Nephrol 1998;8:1899-907.
11. Wilson DP, Jelley D, Stratton R, Coldwell JG. Nephropathic cystinosis: improved linear growth after treatment with recombinant human growth hormone. J Paed 1989;115: 758-61.
12. Pisoni R, Thoene J, Christtensen H. Detectioin and characterization of carrier mediated cationic amino acid transport in lysomsomes of normal and cystinotic fibroblasts. Role in therapeutic cystine removal? J Biol Chem 1995;260:4791-8.
13. Owen B, Rowley G, Sharkey IM, Coulthard MG. Development of cysteamine hydrochloride pellets for cystinotic infants. Eur Hosp Pharm 1997;3:136-42.
14. Cardwell WA, Cairns D, Anderson RJ. Synthesis and evaluation of cysteamine analogues. J Pharm Pharmacol 1997; 49:99.