M Levy, J Feingold - Kidney international, 2000 - nature.com Received 12 July 1999; Revised 7 April 2000; Accepted 14 April 2000. ...
Estimating prevalence in single-gene kidney diseases progressing to renal
failure. Incidence and prevalence, the measures of "frequency," are often ... Cited by 52 - Related articles - BL Direct - All 4 versions
CL Chik, A Friedman, GR Merriam, WA Gahl - Annals of internal medicine, 1993 - Am Coll Physicians Patients: Ten male patients, 15 to 28 years old, with nephropathic cystinosis
and renal allografts formed the study group; 11 renal transplant recipients who
had a primary renal disorder other than cystinosis and were matched with ... Cited by 41 - Related articles - BL Direct - All 5 versions
- ►nefsg.org [PDF] WR Wilcox - The Journal of pediatrics, 2004 - Elsevier The past decade has witnessed major advances in our understanding of the
clinical, biochemical, and genetic aspects of lysosomal storage disorders. This
large and heterogeneous group of almost 50 inherited disorders shares a ... Cited by 34 - Related articles - All 5 versions
R Kleta, WA Gahl - eop, 2004 - informahealthcare.com Cystinosis, clinically recognised since 1903, is an autosomal recessive lyso-
somal storage disease caused by mutations in CTNS. This gene codes for a
lysosomal cystine transporter, whose absence leads to intracellular cystine ... Cited by 23 - Related articles - All 5 versions
DM Krasnewich, WA Gahl - The Endocrinologist, 1991 - journals.lww.com Artide 0021-Q72X/i)l/70Ol-0O95$:no/0 The Endocrinologist Copyright«1 1991 hv
Williams & Willtins Cystinosis: A Treatable Lysosomal Storage Disease Donna M.
Krasneivich, MD, Ph.D., *f & William A. Gahl, MD, Ph.Dj Cystinosis, an ... Cited by 10 - Related articles
ET Tsilou, BI Rubin, GF Reed, F Iwata, W Gahl … - Cornea, 2002 - journals.lww.com One hundred seventy-two patients with infantile nephropathic cystinosis were
followed up at the National Institutes of Health between 1976 and 2000. All the
patients were enrolled in protocols approved by the National Eye Institute ... Cited by 10 - Related articles - BL Direct - All 3 versions
FK Assadi, JJ Mullin, DA Beckman - Birth Defects Research Part A: Clinical and Molecular … - interscience.wiley.com Cystinosis is an autosomal recessive metabolic disease in which the amino acid
cystine accumulates in lysosomes due to a defect in lysosomal cystine transport.
Cystinosis in infancy is associated with poor growth, muscle wastage, and ... Cited by 8 - Related articles - BL Direct - All 3 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
- ►cnrs.fr [PDF] V KALATZIS, N SERRATRICE, C HIPPERT, O … - Pediatric research, 2007 - journals.lww.com ABSTRACT: Cystinosis is a lysosomal storage disorder character- ized by abnormal
accumulation of cystine, which forms crystals at high concentrations. The
causative gene CTNS encodes cystinosin, the lysosomal cystine transporter. ... Cited by 7 - Related articles - BL Direct - All 7 versions
