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Peroxisomal Disorders

  • Chapter
Inborn Metabolic Diseases

Abstract

Peroxisomal disorders can be recognized by the presence of dysmorphias, neurologic abnormalities and hepato-intestinal dysfunction. Widely different features are the following:

  • Craniofacial abnormalities, skeletal dysmorphias, shortened proximal limbs, calcific stippling of the epiphyses

  • Encephalopathy, fits, peripheral neuropathy, abnormal gait, hypotonia

  • Ocular abnormalities such as retinopathy, optic-nerve dysplasia, cataracts

  • Hepato-intestinal dysfunction, hepatomegaly and cholestasis

Possibilities for (dietary) treatment are limited.

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Authors
  1. B. T. Poll-The
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  2. J.-M. Saudubray
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Editor information

Editors and Affiliations

  1. Veldweg 87, 8051 NP, Hattem, The Netherlands

    John Fernandes (Professor Emeritus of Pediatrics) (Professor Emeritus of Pediatrics)

  2. Hospital Necker-Enfants Malades, 149 Rue de Sevres, 75743, Paris Cedex 15, France

    Jean-Marie Saudubray

  3. Institute of Cellular Pathology, Université Catholique de Louvain, Avenue Hippocrate 75, 1200, Brussels, Belgium

    Georges Van den Berghe (Christian de Duve) (Christian de Duve)

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© 2000 Springer-Verlag Berlin Heidelberg

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Poll-The, B.T., Saudubray, JM. (2000). Peroxisomal Disorders. In: Fernandes, J., Saudubray, JM., Van den Berghe, G. (eds) Inborn Metabolic Diseases. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-04285-4_37

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  • DOI: https://doi.org/10.1007/978-3-662-04285-4_37

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-662-04287-8

  • Online ISBN: 978-3-662-04285-4

  • eBook Packages: Springer Book Archive

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