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7. Low beta-glucuronidase activity in a healthy member of a family with mucopolysaccharidosis VII. Chabas A; Giros ML; Guardiola A J Inherit Metab Dis; 1991; 14(6):908-14. PubMed ID: 1779649 [TBL] [Abstract][Full Text] [Related]
8. beta-Glucuronidase deficiency as a cause of fetal hydrops. Kagie MJ; Kleijer WJ; Huijmans JG; Maaswinkel-Mooy P; Kanhai HH Am J Med Genet; 1992 Mar; 42(5):693-5. PubMed ID: 1632440 [TBL] [Abstract][Full Text] [Related]
10. Prenatal diagnosis of Sanfilippo disease type B. Kleijer WJ; Huijmans JG; Blom W; Gorska D; Kubalska J; Walasek M; Zaremba J Hum Genet; 1984; 66(4):287-8. PubMed ID: 6427096 [TBL] [Abstract][Full Text] [Related]
11. Prenatal diagnosis of mucopolysaccharidosis by two-dimensional electrophoresis of amniotic fluid glycosaminoglycans. Mossman J; Patrick AD Prenat Diagn; 1982 Jul; 2(3):169-76. PubMed ID: 6815629 [TBL] [Abstract][Full Text] [Related]
12. Prenatal tests for Sanfilippo disease type B in four pregnancies. Mossman J; Young EP; Patrick AD; Fensom AH; Ellis M; Benson PF; Der Kaloustian VM Prenat Diagn; 1983 Oct; 3(4):347-50. PubMed ID: 6419220 [TBL] [Abstract][Full Text] [Related]
13. Beta-glucuronidase deficiency in a girl with unusual clinical features. Pfeiffer RA; Kresse H; Bäumer N; Sattinger E Eur J Pediatr; 1977 Oct; 126(3):155-61. PubMed ID: 144057 [TBL] [Abstract][Full Text] [Related]
15. Amniotic fluid glycosaminoglycans in the prenatal diagnosis of mucopolysaccharidoses - A useful biomarker. Akella RR; Kadali S Clin Chim Acta; 2016 Sep; 460():63-6. PubMed ID: 27342998 [TBL] [Abstract][Full Text] [Related]
16. Radiolabelled disaccharides for the assay of beta-D-glucuronidase activity and the detection of mucopolysaccharidosis type VII. Muller VJ; Hopwood JJ Clin Chim Acta; 1982 Aug; 123(3):357-60. PubMed ID: 6811165 [No Abstract] [Full Text] [Related]
17. Sulphamidase activity in leucocytes, cultured skin fibroblasts and amniotic cells: diagnosis of the Sanfilippo A syndrome with the use of radiolabelled disaccharide substrate. Hopwood JJ; Elliott H Clin Sci (Lond); 1981 Dec; 61(6):729-35. PubMed ID: 6794973 [TBL] [Abstract][Full Text] [Related]
18. Prenatal diagnosis of mucolipidosis II (I-cell disease). Gehler J; Cantz M; Stoeckenius M; Spranger J Eur J Pediatr; 1976 Jun; 122(3):201-6. PubMed ID: 819273 [TBL] [Abstract][Full Text] [Related]
19. Restoration of normal lysosomal function in mucopolysaccharidosis type VII cells by retroviral vector-mediated gene transfer. Wolfe JH; Schuchman EH; Stramm LE; Concaugh EA; Haskins ME; Aguirre GD; Patterson DF; Desnick RJ; Gilboa E Proc Natl Acad Sci U S A; 1990 Apr; 87(8):2877-81. PubMed ID: 2158095 [TBL] [Abstract][Full Text] [Related]
20. Alpha-L-iduronidase activity in cultured skin fibroblasts and amniotic fluid cells. Hall CW; Neufeld EF Arch Biochem Biophys; 1973 Oct; 158(2):817-21. PubMed ID: 4205743 [No Abstract] [Full Text] [Related] [Next] [New Search]