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Proceedings of the National Academy of Sciences of the United States of America|July 1, 1973
The defect in the Hunter syndrome: deficiency of sulfoiduronate sulfataseG Bach, F Eisenberg, M Cantz, et al.
Prenatal Diagnosis|October 1, 1987
First-trimester prenatal diagnosis of Sanfilippo C diseaseP Di Natale, N Pannone, G D'Argenio, et al.
International Journal of Molecular Medicine|September 24, 1999
Bone marrow transplantation in a Hunter patient with P266H mutationG V Coppa, O Gabrielli, R Cordiali, et al.
Biochimica Et Biophysica Acta|December 4, 2001
The effect of four mutations on the expression of iduronate-2-sulfatase in mucopolysaccharidosis type IIG Bonuccelli, P Di Natale, F Corsolini, et al.
Genomics|June 1, 1993
Cloning and characterization of the cDNA for the murine iduronate sulfatase geneA Daniele, C J Faust, G E Herman, et al.
European Journal of Medical Genetics|July 1, 2008
Precocious puberty in Sanfilippo IIIA disease: diagnosis and follow-up of two new casesD Concolino, G Muzzi, L Pisaturo, et al.
Proceedings of the National Academy of Sciences of the United States of America|October 1, 1983
A canine model of human alpha-L-iduronidase deficiencyE Spellacy, R M Shull, G Constantopoulos, et al.
The Journal of Biological Chemistry|October 15, 1990
Two mutations produce intron insertion in mRNA and elongated beta-subunit of human beta-hexosaminidaseB Dlott, A d'Azzo, D V Quon, et al.
Journal of Neurochemistry|October 1, 1985
Neurochemical characterization of canine alpha-L-iduronidase deficiency disease (model of human mucopolysaccharidosis I)G Constantopoulos, R M Shull, N Hastings, et al.
Biochimica Et Biophysica Acta|February 26, 1999
Maroteaux-lamy syndrome: five novel mutations and their structural localizationG R Villani, N Balzano, D Vitale, et al.
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