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23. Prenatal diagnosis of nephropathic cystinosis. Pregnancy at risk ascertained through heterozygote diagnosis of parents. Boman H; Schneider JA Acta Paediatr Scand; 1981; 70(3):389-93. PubMed ID: 7246131 [TBL] [Abstract][Full Text] [Related]
24. Heterozygote detection in cystinosis, using leukocytes exposed to cystine dimethyl ester. Steinherz R; Tietze F; Triche T; Modesti A; Gahl WA; Schulman JD N Engl J Med; 1982 Jun; 306(24):1468-70. PubMed ID: 7078591 [No Abstract] [Full Text] [Related]
25. Gene transfer may be preventive but not curative for a lysosomal transport disorder. Hippert C; Dubois G; Morin C; Disson O; Ibanes S; Jacquet C; Schwendener R; Antignac C; Kremer EJ; Kalatzis V Mol Ther; 2008 Aug; 16(8):1372-81. PubMed ID: 18578013 [TBL] [Abstract][Full Text] [Related]
26. Mechanism of cystine reaccumulation by cystinotic fibroblasts in vitro. Forster S; Scarlett L; Lloyd JB Biosci Rep; 1990 Apr; 10(2):225-9. PubMed ID: 2357486 [TBL] [Abstract][Full Text] [Related]
27. Increased free-cystine content of fibroblasts cultured from patients with cystinosis. Schneider JA; Rosenbloom FM; Bradley KH; Seegmiller JE Biochem Biophys Res Commun; 1967 Nov; 29(4):527-31. PubMed ID: 16496530 [TBL] [Abstract][Full Text] [Related]
28. Cystinosis: quantitative assay of cystine accumulation of homozygotes and heterozygotes. Kroll W; Lichte KH; Lutz P; Maurer R Humangenetik; 1973; 17(4):337-40. PubMed ID: 4694516 [No Abstract] [Full Text] [Related]
29. The effect of chloroquine on the intralysosomal accumulation of cystine in cystinotic and normal fibroblasts. Danpure CJ; Fyfe DA Biochem Soc Trans; 1980 Oct; 8(5):571. PubMed ID: 7450232 [No Abstract] [Full Text] [Related]
30. High-resolution mapping of the gene for cystinosis, using combined biochemical and linkage analysis. Jean G; Fuchshuber A; Town MM; Gribouval O; Schneider JA; Broyer M; van't Hoff W; Niaudet P; Antignac C Am J Hum Genet; 1996 Mar; 58(3):535-43. PubMed ID: 8644713 [TBL] [Abstract][Full Text] [Related]
31. [From gene to disease: cystinosis]. Levtchenko EN; Wilmer M; de Graaf-Hess AC; van den Heuvel LP; Blom H; Monnens LA Ned Tijdschr Geneeskd; 2004 Mar; 148(10):476-8. PubMed ID: 15042893 [TBL] [Abstract][Full Text] [Related]
32. Cystinosis (ctns) zebrafish mutant shows pronephric glomerular and tubular dysfunction. Elmonem MA; Khalil R; Khodaparast L; Khodaparast L; Arcolino FO; Morgan J; Pastore A; Tylzanowski P; Ny A; Lowe M; de Witte PA; Baelde HJ; van den Heuvel LP; Levtchenko E Sci Rep; 2017 Feb; 7():42583. PubMed ID: 28198397 [TBL] [Abstract][Full Text] [Related]
33. Cystinosis: electron microscopic evidence of lysosomal storage of cystine in lymph node. Patrick AD; Lake BD J Clin Pathol; 1968 Sep; 21(5):571-5. PubMed ID: 5697361 [TBL] [Abstract][Full Text] [Related]
34. Biochemical comparisons of the adult and childhood forms of cystinosis. Schneider JA; Wong V; Bradley K; Seegmiller JE N Engl J Med; 1968 Dec; 279(23):1253-7. PubMed ID: 4880015 [No Abstract] [Full Text] [Related]
35. Transport of L-cystine by cultivated skin fibroblasts of normal subjects and patients with cystinosis. Kaye CI; Nadler HL Pediatr Res; 1976 Jul; 10(7):637-41. PubMed ID: 934729 [TBL] [Abstract][Full Text] [Related]