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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
1997 | 1 |
1998 | 1 |
1999 | 1 |
2000 | 1 |
2004 | 1 |
2024 | 0 |
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Expression and characterization of wild type and mutant recombinant human sulfamidase. Implications for Sanfilippo (Mucopolysaccharidosis IIIA) syndrome.
J Biol Chem. 1999 Dec 24;274(52):37193-9. doi: 10.1074/jbc.274.52.37193.
J Biol Chem. 1999.
PMID: 10601282
Free article.
Expression and functional characterization of human mutant sulfamidase in insect cells.
Montfort M, Garrido E, Hopwood JJ, Grinberg D, Chabás A, Vilageliu L.
Montfort M, et al.
Mol Genet Metab. 2004 Nov;83(3):246-51. doi: 10.1016/j.ymgme.2004.07.001.
Mol Genet Metab. 2004.
PMID: 15542396
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Molecular defects in Sanfilippo syndrome type A.
Blanch L, Weber B, Guo XH, Scott HS, Hopwood JJ.
Blanch L, et al.
Hum Mol Genet. 1997 May;6(5):787-91. doi: 10.1093/hmg/6.5.787.
Hum Mol Genet. 1997.
PMID: 9158154
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Mutational analysis of Sanfilippo syndrome type A (MPS IIIA): identification of 13 novel mutations.
Beesley CE, Young EP, Vellodi A, Winchester BG.
Beesley CE, et al.
J Med Genet. 2000 Sep;37(9):704-7. doi: 10.1136/jmg.37.9.704.
J Med Genet. 2000.
PMID: 11182930
Free PMC article.
No abstract available.
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Identification of molecular defects in Italian Sanfilippo A patients including 13 novel mutations.
Di Natale P, Balzano N, Esposito S, Villani GR.
Di Natale P, et al.
Hum Mutat. 1998;11(4):313-20. doi: 10.1002/(SICI)1098-1004(1998)11:4<313::AID-HUMU9>3.0.CO;2-P.
Hum Mutat. 1998.
PMID: 9554748
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