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Clinical and Laboratory Diagnosis of Peroxisomal Disorders

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Peroxisomes

Part of the book series: Methods in Molecular Biology ((MIMB,volume 1595))

Abstract

The peroxisomal disorders (PDs) are a heterogeneous group of genetic diseases in man caused by an impairment in peroxisome biogenesis or one of the metabolic functions of peroxisomes. Thanks to the revolutionary technical developments in gene sequencing methods and their increased use in patient diagnosis, the field of genetic diseases in general and peroxisomal disorders in particular has dramatically changed in the last few years. Indeed, several novel peroxisomal disorders have been identified recently and in addition it has been realized that the phenotypic spectrum of patients affected by a PD keeps widening, which makes clinical recognition of peroxisomal patients increasingly difficult. Here, we describe these new developments and provide guidelines for the clinical and laboratory diagnosis of peroxisomal patients.

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Acknowledgments

H. Waterham acknowledges support from the Marie Curie Initial Training Network (ITN) action (FP7-2012-PERFUME-316723).

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Authors and Affiliations

  1. Laboratory Genetic Metabolic Diseases, Departments of Paediatrics and Clinical Chemistry, Emma Children’s Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, AZ, 1105, The Netherlands

    Ronald J. A. Wanders, Femke C. C. Klouwer & Sacha Ferdinandusse

  2. Department Paediatric Neurology, Emma Children’s Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, AZ, 1105, The Netherlands

    Bwee Tien Poll-Thé

  3. Laboratory Genetic Metabolic Diseases, Departments of Clinical Chemistry, Academic Medical Center, University of Amsterdam, Amsterdam, AZ, 1105, The Netherlands

    Hans R. Waterham

Authors
  1. Ronald J. A. Wanders
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  2. Femke C. C. Klouwer
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  3. Sacha Ferdinandusse
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  4. Hans R. Waterham
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  5. Bwee Tien Poll-Thé
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Correspondence to Ronald J. A. Wanders .

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  1. College of Life and Environmental Sciences, Biosciences, University of Exeter, Exeter, United Kingdom

    Michael Schrader

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Wanders, R.J.A., Klouwer, F.C.C., Ferdinandusse, S., Waterham, H.R., Poll-Thé, B.T. (2017). Clinical and Laboratory Diagnosis of Peroxisomal Disorders. In: Schrader, M. (eds) Peroxisomes. Methods in Molecular Biology, vol 1595. Humana Press, New York, NY. https://doi.org/10.1007/978-1-4939-6937-1_30

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  • DOI: https://doi.org/10.1007/978-1-4939-6937-1_30

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  • Publisher Name: Humana Press, New York, NY

  • Print ISBN: 978-1-4939-6935-7

  • Online ISBN: 978-1-4939-6937-1

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