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An individual with high plasma lysosomal enzymes

  • Case Report
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Journal of Inherited Metabolic Disease

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References

  • Alexander, D. R., Deeb, M. and Talj, F. Heterozygosity of phosphodiester glycosidase deficiency: a novel human mutation of lysosomal enzyme processing.Hum. Genet. (1986) in press

  • Alexander, D. R., Dudin, G., Talj, F., Bitar, F., Deeb, M., Khudr, A., Abboud, M. and Der Kaloustian, V. M. Five related Lebanese individuals with high plasma lysosomal hydrolases: a new defect in mannose-6-phosphate receptor recognition?Am. J. Hum. Genet. 36 (1984) 1004–1014

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  • Den Tandt, W. R. Affinity chromatography of lysosomal enzymes in plasma, urine and fibroblasts of patients with mucolipidosis II and III.Clin. Chim. Acta 102 (1980) 199–205

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Authors and Affiliations

  1. National Unit of Human Genetics and Department of Paediatrics, American University of Beirut Medical Centre, Beirut, Lebanon

    D. R. Alexander & M. Deeb

  2. Paediatric Research Unit, Guy's Hospital, St., Thomas Stree, SE1 9RT, London, UK

    M. Jackson, J. Marsh & A. H. Fensom

Authors
  1. D. R. Alexander
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  2. M. Deeb
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  3. M. Jackson
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  4. J. Marsh
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  5. A. H. Fensom
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Alexander, D.R., Deeb, M., Jackson, M. et al. An individual with high plasma lysosomal enzymes. J Inherit Metab Dis 9, 283 (1986). https://doi.org/10.1007/BF01799662

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  • DOI: https://doi.org/10.1007/BF01799662

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