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3. Infantile sialic acid storage disease in two siblings. Cooper A; Sardharwalla IB; Thornley M; Ward KP J Inherit Metab Dis; 1988; 11 Suppl 2():259-62. PubMed ID: 3141716 [No Abstract] [Full Text] [Related]
4. Storage material from urine and tissues in the nephropathic phenotype of infantile sialic acid storage disease. Paschke E; Gruber W; Ring E; Sperl W J Inherit Metab Dis; 1992; 15(1):47-56. PubMed ID: 1583876 [TBL] [Abstract][Full Text] [Related]
5. Infantile type of sialic acid storage disease with sialuria. Paschke E; Trinkl G; Erwa W; Pavelka M; Mutz I; Roscher A Clin Genet; 1986 May; 29(5):417-24. PubMed ID: 3742847 [TBL] [Abstract][Full Text] [Related]
6. Defective lysosomal egress of free sialic acid (N-acetylneuraminic acid) in fibroblasts of patients with infantile free sialic acid storage disease. Tietze F; Seppala R; Renlund M; Hopwood JJ; Harper GS; Thomas GH; Gahl WA J Biol Chem; 1989 Sep; 264(26):15316-22. PubMed ID: 2768266 [TBL] [Abstract][Full Text] [Related]
7. Localization of sialic acid in kidney glomeruli: regionalization in the podocyte plasma membrane and loss in experimental nephrosis. Charest PM; Roth J Proc Natl Acad Sci U S A; 1985 Dec; 82(24):8508-12. PubMed ID: 3866237 [TBL] [Abstract][Full Text] [Related]
8. 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]
9. [Genetic disorders of N-acetylneuraminic acid metabolism: sialurias and sialidoses]. Strecker G C R Seances Soc Biol Fil; 1985; 179(5):567-76. PubMed ID: 2938684 [TBL] [Abstract][Full Text] [Related]
10. Clinical and laboratory diagnosis of Salla disease in infancy and childhood. Renlund M J Pediatr; 1984 Feb; 104(2):232-6. PubMed ID: 6694015 [TBL] [Abstract][Full Text] [Related]
11. Defective glucuronic acid transport from lysosomes of infantile free sialic acid storage disease fibroblasts. Blom HJ; Andersson HC; Seppala R; Tietze F; Gahl WA Biochem J; 1990 Jun; 268(3):621-5. PubMed ID: 2363700 [TBL] [Abstract][Full Text] [Related]
15. Infantile free sialuria without lysosomal storage. Roesel RA; Byrne KM; Hommes F; Trefz J; Kelloes C; Nelson AM; Carroll JE Pediatr Neurol; 1987; 3(1):40-3. PubMed ID: 3508047 [TBL] [Abstract][Full Text] [Related]
16. 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]
17. Biochemical and molecular analyses of infantile free sialic acid storage disease in North American children. Kleta R; Aughton DJ; Rivkin MJ; Huizing M; Strovel E; Anikster Y; Orvisky E; Natowicz M; Krasnewich D; Gahl WA Am J Med Genet A; 2003 Jul; 120A(1):28-33. PubMed ID: 12794688 [TBL] [Abstract][Full Text] [Related]
18. Occurrence and distribution of sialic acid residues in developing rat glomerulus: investigations with the Limax flavus and the wheat germ agglutinin. Wagner P; Roth J Eur J Cell Biol; 1988 Dec; 47(2):259-69. PubMed ID: 3243283 [TBL] [Abstract][Full Text] [Related]
19. Establishment and characterization of an Epstein-Barr virus-transformed B cell line, KM/C8, from a patient with infantile sialic acid storage disease. Nagatsuka Y; Nakano C; Nemoto N; Jike T; Ono Y; Hirabayashi Y Biochim Biophys Acta; 1998 Jul; 1381(2):123-30. PubMed ID: 9685606 [TBL] [Abstract][Full Text] [Related]
20. Clinical spectrum of infantile free sialic acid storage disease. Lemyre E; Russo P; Melançon SB; Gagné R; Potier M; Lambert M Am J Med Genet; 1999 Feb; 82(5):385-91. PubMed ID: 10069709 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]