158 related articles for article (PubMed ID: 8127069)
1. A fluorimetric enzyme assay for the diagnosis of Sanfilippo disease type D (MPS IIID).
He W; Voznyi YaV ; Boer AM; Kleijer WJ; van Diggelen OP
J Inherit Metab Dis; 1993; 16(6):935-41. PubMed ID: 8127069
[TBL] [Abstract][Full Text] [Related]
2. A fluorimetric enzyme assay for the diagnosis of Sanfilippo disease C (MPS III C).
Voznyi YaV ; Karpova EA; Dudukina TV; Tsvetkova IV; Boer AM; Janse HC; van Diggelen OP
J Inherit Metab Dis; 1993; 16(2):465-72. PubMed ID: 8412007
[TBL] [Abstract][Full Text] [Related]
3. A fluorimetric enzyme assay for the diagnosis of MPS II (Hunter disease).
Voznyi YV; Keulemans JL; van Diggelen OP
J Inherit Metab Dis; 2001 Nov; 24(6):675-80. PubMed ID: 11768586
[TBL] [Abstract][Full Text] [Related]
4. A fluorimetric enzyme assay for the diagnosis of Morquio disease type A (MPS IV A).
van Diggelen OP; Zhao H; Kleijer WJ; Janse HC; Poorthuis BJ; van Pelt J; Kamerling JP; Galjaard H
Clin Chim Acta; 1990 Feb; 187(2):131-9. PubMed ID: 2107987
[TBL] [Abstract][Full Text] [Related]
5. Detection of the Sanfilippo type B syndrome using radiolabelled oligosaccharides as substrates for the estimation of alpha-N-acetylglucosaminidase.
Hopwood JJ; Elliott H
Clin Chim Acta; 1982 Mar; 120(1):77-86. PubMed ID: 6802523
[TBL] [Abstract][Full Text] [Related]
6. N-acetylglucosamine 6-sulphatase deficiency in a Nubian goat: a model of Sanfilippo syndrome type D (mucopolysaccharidosis IIID).
Thompson JN; Jones MZ; Dawson G; Huffman PS
J Inherit Metab Dis; 1992; 15(5):760-8. PubMed ID: 1434515
[TBL] [Abstract][Full Text] [Related]
7. Sanfilippo D syndrome: correction of glucosamine-6-sulphatase deficiency following fibroblast culture in Chang's media.
Freeman C; Hopwood JJ
Prenat Diagn; 1991 Sep; 11(9):711-7. PubMed ID: 1788178
[TBL] [Abstract][Full Text] [Related]
8. Sanfilippo D syndrome: estimation of N-acetylglucosamine-6-sulfatase activity with a radiolabeled monosulfated disaccharide substrate.
Freeman C; Hopwood JJ
Anal Biochem; 1989 Feb; 176(2):244-8. PubMed ID: 2500866
[TBL] [Abstract][Full Text] [Related]
9. Human glucosamine-6-sulphatase deficiency. Diagnostic enzymology towards heparin-derived trisaccharide substrates.
Freeman C; Hopwood JJ
Biochem J; 1992 Mar; 282 ( Pt 2)(Pt 2):605-14. PubMed ID: 1546976
[TBL] [Abstract][Full Text] [Related]
10. Detection of the Sanfilippo D syndrome by the use of a radiolabeled monosaccharide sulfate as the substrate for the estimation of N-acetylglucosamine-6-sulfate sulfatase.
Elliott H; Hopwood JJ
Anal Biochem; 1984 Apr; 138(1):205-9. PubMed ID: 6428270
[TBL] [Abstract][Full Text] [Related]
11. 4-Methylumbelliferyl alpha-N-acetylglucosaminidase activity for diagnosis of Sanfilippo B disease.
Marsh J; Fensom AH
Clin Genet; 1985 Mar; 27(3):258-62. PubMed ID: 3921297
[TBL] [Abstract][Full Text] [Related]
12. A fluorimetric enzyme assay for the diagnosis of Sanfilippo disease type A (MPS IIIA).
Karpova EA; Voznyi YaV ; Keulemans JL; Hoogeveen AT; Winchester B; Tsvetkova IV; van Diggelen OP
J Inherit Metab Dis; 1996; 19(3):278-85. PubMed ID: 8803769
[TBL] [Abstract][Full Text] [Related]
13. Sanfilippo syndrome type D in two adolescent sisters.
Siciliano L; Fiumara A; Pavone L; Freeman C; Robertson D; Morris CP; Hopwood JJ; Di Natale P; Musumeci S; Horwitz AL
J Med Genet; 1991 Jun; 28(6):402-5. PubMed ID: 1908010
[TBL] [Abstract][Full Text] [Related]
14. N-acetylglucosamine 6-sulfate residues in keratan sulfate and heparan sulfate are desulfated by the same enzyme.
Hopwood JJ; Elliott H
Biochem Int; 1983 Feb; 6(2):141-8. PubMed ID: 6236815
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. [Postnatal and prenatal diagnosis of mucopolysaccharidosis type III (Sanfilippo syndrome)].
Zhang WM; Shi HP; Meng Y; Li BT; Qiu ZQ; Liu JT
Zhonghua Er Ke Za Zhi; 2008 Jun; 46(6):407-10. PubMed ID: 19099774
[TBL] [Abstract][Full Text] [Related]
17. Prenatal diagnosis of Sanfilippo disease type C using a simple fluorometric enzyme assay.
He W; Voznyi YaV ; Huijmans JG; Geilen GC; Karpova EA; Dudukina TV; Zaremba J; Van Diggelen OP; Kleijer WJ
Prenat Diagn; 1994 Jan; 14(1):17-22. PubMed ID: 8183833
[TBL] [Abstract][Full Text] [Related]
18. Sanfilippo syndrome type D: identification of the first mutation in the N-acetylglucosamine-6-sulphatase gene.
Beesley CE; Burke D; Jackson M; Vellodi A; Winchester BG; Young EP
J Med Genet; 2003 Mar; 40(3):192-4. PubMed ID: 12624138
[TBL] [Abstract][Full Text] [Related]
19. Enzyme Replacement Therapy for Mucopolysaccharidosis IIID using Recombinant Human α-
Wang F; Moen DR; Sauni C; Kan SH; Li S; Le SQ; Lomenick B; Zhang X; Ekins S; Singamsetty S; Wood J; Dickson PI; Chou TF
Mol Pharm; 2021 Jan; 18(1):214-227. PubMed ID: 33320673
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]