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Neurometabolic Hereditary Diseases of Adults

Editors: Burlina, Alessandro P. (Ed.)

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  • Describes only treatable inherited metabolic disease affecting the nervous system, to increase practical relevance to general neurologist in everyday clinical practice
  • Focus on diagnostic approach, monitoring and treatment
  • Information on how to deal with diseases with special therapy
  • High-quality brain MRI scans
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eBook $84.99
price for USA in USD (gross)
  • ISBN 978-3-319-76148-0
  • Digitally watermarked, DRM-free
  • Included format: PDF, EPUB
  • ebooks can be used on all reading devices
  • Immediate eBook download after purchase
Hardcover $109.00
price for USA in USD
  • ISBN 978-3-319-76146-6
  • Free shipping for individuals worldwide
  • Usually dispatched within 3 to 5 business days.
Softcover $109.99
price for USA in USD
  • ISBN 978-3-030-09414-0
  • Free shipping for individuals worldwide
  • Usually dispatched within 3 to 5 business days.
About this book

This practical book describes only neurometabolic hereditary diseases which have a specific treatment and encourages the general neurologist to think of the most common neurometabolic hereditary diseases, which he might have seen and never considered in the differential diagnosis. Information regarding how to deal with diseases with special therapy is provided (i.e. enzymatic replacement therapy in Fabry disease and Pompe disease), as is information on diseases which are not easily recognized (i.e. Niemann-Pick disease type C), and diseases with clinical features mimicking other common neurodegenrative diseases (i.e. Wilson's disease). Neurometabolic Hereditary Diseases is written with a clinical focus for adult neurologists working in general hospitals.

About the authors

Dr Alessandro P. Burlina is Director of the Neurological Unit at the San Bassiano Hospital, Bassano del Grappa, and former Adult Neurologist Consultant at the Inherited Metabolic Disease Unit of the University Hospital of Padua, Italy. Since 1995, he has held positions at the Centre for Neurochemistry (Nathan S. Kline Institute for Psychiatric Research, New York University), the Department of Neurology (Yale University School of Medicine) and the Department of Biophysical Chemistry (Biocentre of the University of Basel). He is interested in the clinical and neurochemical aspects of inherited neurometabolic diseases in adulthood. His current research is focused on neurological findings of Fabry disease and phenylketonuria. He has published many peer-reviewed publications and book chapters on inherited metabolic diseases.

Table of contents (8 chapters)

Table of contents (8 chapters)
  • Principles of Human Genetics and Mendelian Inheritance

    Pages 1-28

    Germain, Dominique P., M.D., Ph.D. (et al.)

  • Newborn Screening and High Risk Screening Population for Neurological Inherited Metabolic Diseases

    Pages 29-41

    Burlina, Alberto, M.D. (et al.)

  • Neuroimaging of Inherited Metabolic Diseases of Adulthood

    Pages 43-65

    Manara, Renzo, M.D. (et al.)

  • Fabry Disease

    Pages 67-98

    Burlina, Alessandro P., M.D., Ph.D. (et al.)

  • Pompe Disease

    Pages 99-120

    Murphy, Alexander Peter, M.B.Ch.B. (et al.)

Buy this book

eBook $84.99
price for USA in USD (gross)
  • ISBN 978-3-319-76148-0
  • Digitally watermarked, DRM-free
  • Included format: PDF, EPUB
  • ebooks can be used on all reading devices
  • Immediate eBook download after purchase
Hardcover $109.00
price for USA in USD
  • ISBN 978-3-319-76146-6
  • Free shipping for individuals worldwide
  • Usually dispatched within 3 to 5 business days.
Softcover $109.99
price for USA in USD
  • ISBN 978-3-030-09414-0
  • Free shipping for individuals worldwide
  • Usually dispatched within 3 to 5 business days.
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Bibliographic Information

Bibliographic Information
Book Title
Neurometabolic Hereditary Diseases of Adults
Editors
  • Alessandro P. Burlina
Copyright
2018
Publisher
Springer International Publishing
Copyright Holder
Springer International Publishing AG, part of Springer Nature
eBook ISBN
978-3-319-76148-0
DOI
10.1007/978-3-319-76148-0
Hardcover ISBN
978-3-319-76146-6
Softcover ISBN
978-3-030-09414-0
Edition Number
1
Number of Pages
XIV, 181
Number of Illustrations
13 b/w illustrations, 16 illustrations in colour
Topics