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Preimplantation diagnosis of a lysosomal storage disorder by in situ enzymatic activity: 'Proof of principle' in acid sphingomyelinase-deficient mice

Academic Article
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  • Identity
  • Additional Document Info
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Overview

authors

  • Butler, A.
  • Henderson, Scott
  • Gordon, R. E.
  • Dagan, A.
  • Gatt, S.
  • Schuchman, E. H.

publication date

  • 2005

journal

  • Journal of Inherited Metabolic Disease  Journal

subject areas

  • Animals
  • Biopsy
  • Boron Compounds
  • DNA
  • Embryo, Mammalian
  • Embryonic Development
  • Heterozygote
  • Homozygote
  • Lipid Metabolism
  • Lysosomal Storage Diseases
  • Lysosomes
  • Mice
  • Mice, Knockout
  • Microscopy, Confocal
  • Microscopy, Fluorescence
  • Oocytes
  • Ovum
  • Polymerase Chain Reaction
  • Preimplantation Diagnosis
  • Sphingomyelin Phosphodiesterase
  • Sphingomyelins
  • Time Factors
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Identity

International Standard Serial Number (ISSN)

  • 0141-8955

Digital Object Identifier (DOI)

  • 10.1007/s10545-005-4418-7

PubMed ID

  • 15702401
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Additional Document Info

start page

  • 1

end page

  • 12

volume

  • 28

issue

  • 1

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