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3. Mucopolysaccharide storage diseases and lysosomal hydrolases in cultured fibroblasts. den Tandt WR; Schaberg A Pathol Eur; 1973; 8(1):3-11. PubMed ID: 4269628 [No Abstract] [Full Text] [Related]
4. Prediction of Sanfilippo phenotype severity from immunoquantification of heparan-N-sulfamidase in cultured fibroblasts from mucopolysaccharidosis type IIIA patients. Perkins KJ; Muller V; Weber B; Hopwood JJ Mol Genet Metab; 2001 Aug; 73(4):306-12. PubMed ID: 11509012 [TBL] [Abstract][Full Text] [Related]
5. Sulfamidase deficiency in a family of Dachshunds: a canine model of mucopolysaccharidosis IIIA (Sanfilippo A). Fischer A; Carmichael KP; Munnell JF; Jhabvala P; Thompson JN; Matalon R; Jezyk PF; Wang P; Giger U Pediatr Res; 1998 Jul; 44(1):74-82. PubMed ID: 9667374 [TBL] [Abstract][Full Text] [Related]
6. Defective heparan sulfate metabolism in the Sanfilippo syndrome and assay of this defect in the assessment of the mucopolysaccharidoses patient. Gordon BA; Feleki V; Budreau CH; Tyler L Clin Biochem; 1975 Jun; 8(3):184-93. PubMed ID: 238759 [TBL] [Abstract][Full Text] [Related]
7. Radiolabelled oligosaccharides as substrates for the estimation of sulfamidase and the detection of the Sanfilippo type A syndrome. Hopwood JJ; Elliott H Clin Chim Acta; 1981 Apr; 112(1):55-66. PubMed ID: 6786803 [TBL] [Abstract][Full Text] [Related]
9. Sanfilippo syndrome, type D: a spectrophotometric assay with prenatal diagnostic potential. Nowakowski RW; Thompson JN; Taylor KB Pediatr Res; 1989 Nov; 26(5):462-6. PubMed ID: 2510119 [TBL] [Abstract][Full Text] [Related]
10. Mucopolysaccharidosis 3 A (Sanfilippo A disease): deficiency of a heparin sulfamidase in skin fibroblasts and leucocytes. Kresse H Biochem Biophys Res Commun; 1973 Oct; 54(3):1111-8. PubMed ID: 4201808 [No Abstract] [Full Text] [Related]
11. A new biochemical subtype of the Sanfilippo syndrome: characterization of the storage material in cultured fibroblasts of Sanfilippo C patients. Kresse H; Von Figura K; Klein U Eur J Biochem; 1978 Dec; 92(2):333-9. PubMed ID: 153835 [TBL] [Abstract][Full Text] [Related]
12. A screening method for mucopolysaccharidoses with increased urinary excretion of sulfated N-acetylhexosamines. Nowakowski RW; Thompson JN; Edge DS Biochem Int; 1990 Nov; 22(3):419-26. PubMed ID: 2127527 [TBL] [Abstract][Full Text] [Related]
13. Diagnosis of Sanfilippo type A syndrome by estimation of sulfamidase activity using a radiolabelled tetrasaccharide substrate. Hopwood JJ; Elliott H Clin Chim Acta; 1982 Aug; 123(3):241-50. PubMed ID: 6811162 [TBL] [Abstract][Full Text] [Related]
14. Differences in the nonreducing ends of heparan sulfates excreted by patients with mucopolysaccharidoses revealed by bacterial heparitinases: a new tool for structural studies and differential diagnosis of Sanfilippo's and Hunter's syndromes. Toma L; Dietrich CP; Nader HB Lab Invest; 1996 Dec; 75(6):771-81. PubMed ID: 8973472 [TBL] [Abstract][Full Text] [Related]
15. Sanfilippo syndrome: profound deficiency of alpha-acetylglucosaminidase activity in organs and skin fibroblasts from type-B patients. O'Brien JS Proc Natl Acad Sci U S A; 1972 Jul; 69(7):1720-2. PubMed ID: 4261742 [TBL] [Abstract][Full Text] [Related]
16. Quantitative aspects of pinocytosis and the intracellular fate of N-acetyl-alpha-D-glucosaminidase in Sanfilippo B fibroblasts. von Figura K; Kresse H J Clin Invest; 1974 Jan; 53(1):85-90. PubMed ID: 4271574 [TBL] [Abstract][Full Text] [Related]
17. Mucopolysaccharidosis III A (Sanfilippo disease type A). Histochemical, electron microscopical and biochemical findings. Cain H; Egner E; Kresse H Beitr Pathol; 1977 Apr; 160(1):58-72. PubMed ID: 405006 [TBL] [Abstract][Full Text] [Related]
18. Sanfilippo syndrome type C: deficiency of acetyl-CoA:alpha-glucosaminide N-acetyltransferase in skin fibroblasts. Klein U; Kresse H; von Figura K Proc Natl Acad Sci U S A; 1978 Oct; 75(10):5185-9. PubMed ID: 33384 [TBL] [Abstract][Full Text] [Related]
19. Glycosidases in human skin fibroblast cultures. Alpha-fucosidase, alpha-galactosidase, alpha-glucosidase, beta-mannosidase, and N-acetyl-alpha-glucosaminidase. Hultberg B; Sjöblad S; Ockerman PA Acta Paediatr Scand; 1975 Jan; 64(1):123-31. PubMed ID: 234663 [TBL] [Abstract][Full Text] [Related]
20. Sanfilippo disease type D: deficiency of N-acetylglucosamine-6-sulfate sulfatase required for heparan sulfate degradation. Kresse H; Paschke E; von Figura K; Gilberg W; Fuchs W Proc Natl Acad Sci U S A; 1980 Nov; 77(11):6822-6. PubMed ID: 6450420 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]