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European Journal of Biochemistry|February 16, 1976
Histidyl transfer ribonucleic acid synthetase from Salmonella typhimurium. Interaction with substrates and ATP analoguesP Di Natale, A N Schechter, G Castronuovo Lepore, et al.Pediatric Neurology|October 6, 2001
Extraneurologic symptoms as presenting signs of Sanfilippo diseaseR Barone, A Fiumara, G R Villani, et al.Clinical Genetics|June 1, 1979
Sanfilippo B syndrome (MPS III B): mild and severe forms within the same sibshipG Andria, P Di Natale, E Del Giudice, et al.Human Mutation|April 24, 1999
Detection of four novel mutations in the iduronate-2-sulfatase gene. Mutations in brief no. 123. OnlineN Balzano, G R Villani, M Grosso, et al.Proceedings of the National Academy of Sciences of the United States of America|April 1, 1989
Molecular basis of adult-onset and chronic GM2 gangliosidoses in patients of Ashkenazi Jewish origin: substitution of serine for glycine at position 269 of the alpha-subunit of beta-hexosaminidaseB H Paw, M M Kaback, E F NeufeldAmerican Journal of Human Genetics|June 1, 1991
A third mutation at the CpG dinucleotide of codon 504 and a silent mutation at codon 506 of the HEX A geneB H Paw, L C Wood, E F NeufeldProceedings of the National Academy of Sciences of the United States of America|August 1, 1972
The defect in the Hurler and Scheie syndromes: deficiency of -L-iduronidaseG Bach, R Friedman, B Weissmann, et al.Proceedings of the National Academy of Sciences of the United States of America|September 1, 1972
Simulation of genetic mucopolysaccharidoses in normal human fibroblasts by alteration of pH of the mediumS O Lie, V A McKusick, E F NeufeldBiochemistry|August 5, 1980
p-Isothiocyanatophenyl 6-phospho-alpha-D-mannopyranoside coupled to albumin. A model compound recognized by the fibroblast lysosomal enzyme uptake system. 2. Biological propertiesE M Karson, E F Neufeld, G N SandoGenomics|November 1, 1992
Architecture of the canine IDUA gene and mutation underlying canine mucopolysaccharidosis IK P Menon, P T Tieu, E F NeufeldPageof 12