- ►annals.org WA Gahl, JZ Balog, R Kleta - Annals of Internal Medicine, 2007 - Am Coll Physicians Add to CiteULike Add to Complore Add to Connotea Add to Del.icio.us Add to Digg
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Background: The full burden of nephropathic cystinosis in adulthood and the ... Cited by 12 - Related articles - BL Direct - All 4 versions
- ►asnjournals.org M Ueda, K O'Brien, DR Rosing, A Ling, R … - Clinical Journal of the American Society of Nephrology, 2006 - Am Soc Nephrol Cystinosis, an autosomal recessive disorder of lysosomal cystine accumulation,
results from mutations in the CTNS gene that encodes the lysosomal cystine
transporter, cystinosin. Renal tubular Fanconi syndrome occurs in infancy, ... Cited by 6 - Related articles - BL Direct - All 5 versions
ET Tsilou, BI Rubin, G Reed, RC Caruso, F … - Ophthalmology, 2006 - Elsevier Cystinosis is a rare autosomal recessive lysosomal storage disorder
characterized by the intracellular accumulation of cystine. Treatment involves
intracellular cystine depletion with oral cysteamine. A wide spectrum of ... Cited by 10 - Related articles - All 7 versions
BC Sonies, P Almajid, R Kleta, I Bernardini, … - Medicine, 2005 - journals.lww.com Abstract: Nephropathic cystinosis is a rare, autosomal recessive lysosomal
storage disorder caused by mutations in the CTNS gene that codes for a cystine
transporter in the lysosomal membrane. Affected patients store 50-100 times ... Cited by 19 - Related articles - All 5 versions
- ►oxfordjournals.org R Middleton, M Bradbury, N Webb, D O' … - Nephrology Dialysis Transplantation, 2003 - ERA-EDTA In November 1994 a 2-year 8-month-old girl presented with failure to thrive. She
was the second child; her parents were first cousins. There was no significant
family history other than an uncle with coeliac disease. She was below the ... Cited by 8 - Related articles - BL Direct - All 4 versions
PA Andrews, SH Sacks, W Hoff - JAMA, 1994 - Am Med Assoc —Cystinosis is an autosomal recessive disorder in which accumulation of
lysosomal cystine leads to renal failure, growth retardation, photophobia,
endocrine dysfunction, and other late complications. 1,2 In their article ... Cited by 4 - Related articles - All 2 versions
MC Fidler, BA Barshop, JA Gangoiti, R … - British journal of clinical pharmacology, 2007 - pubmedcentral.nih.gov The rate and extent of drug absorption were assessed by comparing AUC(0, ∞), C
max and t max , among the gastrointestinal infusion sites. Total cysteamine
exposure, expressed as area under the curve (AUC(0, ∞)) was greatest when ... Cited by 5 - Related articles - BL Direct - All 22 versions
- ►cystinosisresearch.com [PDF] R Dohil, M Fidler, BA Barshop, J Gangoiti, R … - The Journal of pediatrics, 2006 - Elsevier Eight control subjects (mean age 23.2 years) and 6 subjects with cystinosis
(mean age 15.2 years) were studied. Cysteamine absorption (maximum concentration
and area under the curve of the concentration-time gradient) was greater ... Cited by 6 - Related articles - All 30 versions
G Nesterova, W Gahl - Pediatric Nephrology, 2008 - Springer Abstract Cystinosis is a rare autosomal recessive disorder due to impaired
transport of cystine out of cellular lysosomes. Its estimated incidence is 1 in
100,000 live births. End-stage renal disease (ESRD) is the most prominent ... Cited by 7 - Related articles - BL Direct - All 3 versions
