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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2000 | 1 |
2002 | 1 |
2003 | 2 |
2005 | 1 |
2009 | 1 |
2010 | 2 |
2024 | 0 |
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7 results
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Page 1
Gene transfer strategies for correction of lysosomal storage disorders.
Acta Haematol. 2003;110(2-3):71-85. doi: 10.1159/000072456.
Acta Haematol. 2003.
PMID: 14583667
Review.
Systemic and neurologic abnormalities distinguish the lysosomal disorders sialidosis and galactosialidosis in mice.
de Geest N, Bonten E, Mann L, de Sousa-Hitzler J, Hahn C, d'Azzo A.
de Geest N, et al.
Hum Mol Genet. 2002 Jun 1;11(12):1455-64. doi: 10.1093/hmg/11.12.1455.
Hum Mol Genet. 2002.
PMID: 12023988
Item in Clipboard
Novel mutations in lysosomal neuraminidase identify functional domains and determine clinical severity in sialidosis.
Bonten EJ, Arts WF, Beck M, Covanis A, Donati MA, Parini R, Zammarchi E, d'Azzo A.
Bonten EJ, et al.
Hum Mol Genet. 2000 Nov 1;9(18):2715-25. doi: 10.1093/hmg/9.18.2715.
Hum Mol Genet. 2000.
PMID: 11063730
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Modulating action of the new polymorphism L436F detected in the GLB1 gene of a type-II GM1 gangliosidosis patient.
Caciotti A, Bardelli T, Cunningham J, D'Azzo A, Zammarchi E, Morrone A.
Caciotti A, et al.
Hum Genet. 2003 Jul;113(1):44-50. doi: 10.1007/s00439-003-0930-8. Epub 2003 Mar 19.
Hum Genet. 2003.
PMID: 12644936
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Sialidosis presenting as severe nonimmune fetal hydrops is associated with two novel mutations in lysosomal alpha-neuraminidase.
Loren DJ, Campos Y, d'Azzo A, Wyble L, Grange DK, Gilbert-Barness E, White FV, Hamvas A.
Loren DJ, et al.
J Perinatol. 2005 Jul;25(7):491-4. doi: 10.1038/sj.jp.7211335.
J Perinatol. 2005.
PMID: 15908988
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Muscle degeneration in neuraminidase 1-deficient mice results from infiltration of the muscle fibers by expanded connective tissue.
Zanoteli E, van de Vlekkert D, Bonten EJ, Hu H, Mann L, Gomero EM, Harris AJ, Ghersi G, d'Azzo A.
Zanoteli E, et al.
Biochim Biophys Acta. 2010 Jul-Aug;1802(7-8):659-72. doi: 10.1016/j.bbadis.2010.04.002. Epub 2010 Apr 11.
Biochim Biophys Acta. 2010.
PMID: 20388541
Free PMC article.
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Vacuolization and alterations of lysosomal membrane proteins in cochlear marginal cells contribute to hearing loss in neuraminidase 1-deficient mice.
Wu X, Steigelman KA, Bonten E, Hu H, He W, Ren T, Zuo J, d'Azzo A.
Wu X, et al.
Biochim Biophys Acta. 2010 Feb;1802(2):259-68. doi: 10.1016/j.bbadis.2009.10.008. Epub 2009 Oct 24.
Biochim Biophys Acta. 2010.
PMID: 19857571
Free PMC article.
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