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2. [Lysosomal membrane transport disorders--cystinosis and sialic acid storage disorders (Salla disease, ISSD)]. Yano T; Ohno K Nihon Rinsho; 1995 Dec; 53(12):3068-71. PubMed ID: 8577060 [TBL] [Abstract][Full Text] [Related]
3. Disorders of lysosomal membrane transport--cystinosis and Salla disease. Gahl WA Enzyme; 1987; 38(1-4):154-60. PubMed ID: 3326729 [TBL] [Abstract][Full Text] [Related]
4. The pathogenesis of cystinosis: mechanisms beyond cystine accumulation. Wilmer MJ; Emma F; Levtchenko EN Am J Physiol Renal Physiol; 2010 Nov; 299(5):F905-16. PubMed ID: 20826575 [TBL] [Abstract][Full Text] [Related]
5. Lysosomal cystine transport in cystinosis variants and their parents. Gahl WA; Tietze F Pediatr Res; 1987 Feb; 21(2):193-6. PubMed ID: 3822600 [TBL] [Abstract][Full Text] [Related]
6. Lysosomal cystine counter-transport in heterozygotes for cystinosis. Gahl WA; Bashan N; Tietze F; Schulman JD Am J Hum Genet; 1984 Mar; 36(2):277-82. PubMed ID: 6711558 [TBL] [Abstract][Full Text] [Related]
7. Sialic acid storage disease and related disorders. Strehle EM Genet Test; 2003; 7(2):113-21. PubMed ID: 12885332 [TBL] [Abstract][Full Text] [Related]
8. [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]
9. Cystine transport is defective in isolated leukocyte lysosomes from patients with cystinosis. Gahl WA; Bashan N; Tietze F; Bernardini I; Schulman JD Science; 1982 Sep; 217(4566):1263-5. PubMed ID: 7112129 [TBL] [Abstract][Full Text] [Related]
10. [Lysosomal transport disorders: cystinosis and sialic acid storage disorders]. Eto Y Ryoikibetsu Shokogun Shirizu; 1998; (19 Pt 2):601-5. PubMed ID: 9645145 [No Abstract] [Full Text] [Related]
14. Studies of lysosomal sialic acid metabolism: retention of sialic acid by Salla disease lysosomes. Jonas AJ Biochem Biophys Res Commun; 1986 May; 137(1):175-81. PubMed ID: 3718508 [TBL] [Abstract][Full Text] [Related]
15. [Cystinosis: from cystine crystals to the cystinosin]. Pintos G Nefrologia; 2003; 23 Suppl 1():60-70. PubMed ID: 12708365 [No Abstract] [Full Text] [Related]
16. [Cystinosis from childhood to adulthood]. Broyer M Nephrologie; 2000; 21(1):13-8. PubMed ID: 10730275 [TBL] [Abstract][Full Text] [Related]
17. Renal handling of free sialic acid in normal humans and patients with Salla disease or renal disease. Seppala R; Renlund M; Bernardini I; Tietze F; Gahl WA Lab Invest; 1990 Aug; 63(2):197-203. PubMed ID: 2381164 [TBL] [Abstract][Full Text] [Related]
18. Niemann-Pick C disease: cystine and lipids accumulate in the murine model of this lysosomal cholesterol lipidosis. Butler JD; Vanier MT; Pentchev PG Biochem Biophys Res Commun; 1993 Oct; 196(1):154-9. PubMed ID: 8216287 [TBL] [Abstract][Full Text] [Related]
19. A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases. Verheijen FW; Verbeek E; Aula N; Beerens CE; Havelaar AC; Joosse M; Peltonen L; Aula P; Galjaard H; van der Spek PJ; Mancini GM Nat Genet; 1999 Dec; 23(4):462-5. PubMed ID: 10581036 [TBL] [Abstract][Full Text] [Related]
20. Molecular pathogenesis of cystinosis: effect of CTNS mutations on the transport activity and subcellular localization of cystinosin. Kalatzis V; Nevo N; Cherqui S; Gasnier B; Antignac C Hum Mol Genet; 2004 Jul; 13(13):1361-71. PubMed ID: 15128704 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]