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Neurometabolic Hereditary Diseases of Adults

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Autore: Burlina
Editore: Springer
Anno: 2018
Pagine: 181
ISBN: 9783319761466
Prezzo: 90,00€
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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

  • Principles of Human Genetics and Mendelian Inheritance

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

    Pages 1-28

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

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

    Pages 29-41

  • Neuroimaging of Inherited Metabolic Diseases of Adulthood

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

    Pages 43-65

  • Fabry Disease

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

    Pages 67-98

  • Pompe Disease

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

    Pages 99-120

  • Niemann-Pick Disease Type C

    Nadjar, Yann, M.D., Ph.D. (et al.)

    Pages 121-146

  • Wilson’s Disease

    Woimant, France, M.D. (et al.)

    Pages 147-168

  • Homocystinuria

    Lourenço, Charles Marques, M.D., Ph.D.

    Pages 169-174

 

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