Table of Contents
Molecular Biology International
Volume 2012, Article ID 797342, 9 pages
http://dx.doi.org/10.1155/2012/797342
Research Article

Prevention of Lysosomal Storage Diseases and Derivation of Mutant Stem Cell Lines by Preimplantation Genetic Diagnosis

1“ZOHAR” PGD Laboratory, Medical Genetics Institute, Shaare Zedek Medical Center, P.O. Box 3235, Jerusalem 91031, Israel
2School of Medicine, The Hebrew University, Jerusalem, Israel
3Stem Cell Laboratory, Medical Genetics Institute, Shaare Zedek Medical Center, P.O. Box 3235, Jerusalem 91031, Israel
4IVF Unit, Shaare Zedek Medical Center, P.O. Box 3235, Jerusalem 91031, Israel
5Gaucher Clinic, Shaare Zedek Medical Center, P.O. Box 3235, Jerusalem 91031, Israel

Received 13 June 2012; Accepted 27 November 2012

Academic Editor: Mouldy Sioud

Copyright © 2012 Gheona Altarescu et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Citations to this Article [8 citations]

The following is the list of published articles that have cited the current article.

  • Bryan Winchester, “Lysosomal diseases: diagnostic update,” Journal of Inherited Metabolic Disease, 2014. View at Publisher · View at Google Scholar
  • Ana Fernandez-Marmiesse, Marcos Morey, Merce Pineda, Jesus Eiris, Maria Luz Couce, Manuel Castro-Gago, Jose Maria Fraga, Lucia Lacerda, Sofia Gouveia, Maria Socorro Perez-Poyato, Judith Armstrong, Daisy Castineiras, and Jose A. Cocho, “Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders,” Orphanet Journal of Rare Diseases, vol. 9, 2014. View at Publisher · View at Google Scholar
  • Stefan Kostadinov, Birju A. Shah, Joseph Alroy, and Chanika Phornphutkul, “A Case of Galactosialidosis with Novel Mutations of the Protective Protein/Cathepsin A Gene: Diagnosis Prompted by Trophoblast Vacuolization on Placen,” Pediatric And Developmental Pathology, vol. 17, no. 6, pp. 474–477, 2014. View at Publisher · View at Google Scholar
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  • Roberto Giugliani, Ana Carolina Brusius-Facchin, Carolina Fischinger Moura de Souza, Gabriel Civallero, Maira Burin, Sandra Leistner-Segal, Guilherme Baldo, and Filippo Vairo, “Diagnosis and therapy options in mucopolysaccharidosis II (Hunter syndrome),” Expert Opinion on Orphan Drugs, vol. 3, no. 2, pp. 141–150, 2015. View at Publisher · View at Google Scholar
  • Steven Humphries, Sara Mole, and Bryan Winchester, “Prenatal Diagnosis of Disorders of Lipid Metabolism,” Genetic Disorders and the Fetus, pp. 773–837, 2015. View at Publisher · View at Google Scholar
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  • Claudia Yahalom, Michal Macarov, Galit Lazer-Derbeko, Gheona Altarescu, Tal Imbar, Jordana H. Hyman, Talia Eldar-Geva, and Anat Blumenfeld, “Preimplantation genetic diagnosis as a strategy to prevent having a child born with an heritable eye disease,” Ophthalmic Genetics, pp. 1–7, 2018. View at Publisher · View at Google Scholar