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Storage Diseases (Mucopolysaccharidoses and Glycogenoses)

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Musculoskeletal Imaging

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Abstract

Lysosomal storage diseases are a group of inherited metabolic disorders characterized by intralysosomal accumulation of incompletely metabolized substrates due to deficiency in one of the enzymes required for substrate degradation. Accumulation of these substrates subsequently alters the structural and biochemical properties of the affected tissue. Most of these disorders are associated with high morbidity and premature death. They can be divided into lipidoses, mucopolysaccharidoses (MPS), and glycogenoses. This chapter specifically focuses on MPS and glycogenoses. This print summary gives a brief overview of the radiographic findings of the disorders. More detailed information on the etiology, clinical presentation, radiographic findings, and treatment options of the disorders can be found in the Web-based full chapter.

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Suggested Readings

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Author information

Authors and Affiliations

  1. Department of Radiology, Columbia University Irving Medical Center, New York–Presbyterian Hospital, New York, NY, USA

    Nahill Matari

  2. Diagnostic Radiology, Rutgers-NJMS, Newark, NJ, USA

    Cosmin Iacoban

  3. Musculoskeletal Imaging, Sutter Health, Sacramento, CA, USA

    Calvin Ma

  4. New York, NY, USA

    Sana Ali

  5. San Diego, CA, USA

    Nimisha Dorshi

  6. Clinica Radiologica, Malaga, Spain

    Rodrigo Dominguez

Authors
  1. Nahill Matari
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  2. Cosmin Iacoban
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  3. Calvin Ma
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  4. Sana Ali
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  5. Nimisha Dorshi
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  6. Rodrigo Dominguez
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Editor information

Editors and Affiliations

  1. Envision Physician Services, Plantation, FL, USA

    Thomas Pope

  2. Department of Radiology, Leiden University Medical Center, Leiden, The Netherlands

    Johannes L. Bloem

  3. Department of Radiology, Thomas Jefferson University Hospital, Philadelphia, USA

    William B. Morrison

  4. St. Luke’s Radiology Oxford Ltd, Oxford, UK

    David John Wilson

  5. Department of Medical Imaging, University Health Network, Toronto, Canada

    Lawrence White

Section Editor information

  1. Envision Physician Services, Sunrise, FL, OH, USA

    Thomas Pope

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Matari, N., Iacoban, C., Ma, C., Ali, S., Dorshi, N., Dominguez, R. (2023). Storage Diseases (Mucopolysaccharidoses and Glycogenoses). In: Pope, T., Bloem, J.L., Morrison, W.B., Wilson, D.J., White, L. (eds) Musculoskeletal Imaging. Springer, Cham. https://doi.org/10.1007/978-3-030-57376-8_76-1

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  • DOI: https://doi.org/10.1007/978-3-030-57376-8_76-1

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  • Print ISBN: 978-3-030-57376-8

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