Neurometabolic Hereditary Diseases of Adults

• Corporate Author: SpringerLink (Online service)
• Other Authors: Burlina, Alessandro P. (Editor, http://id.loc.gov/vocabulary/relators/edt)
• Format: Electronic eBook
• Language: English
• Published: Cham : Springer International Publishing : Imprint: Springer, 2018.
• Edition: 1st ed. 2018.
• Subjects: Neurology .; Metabolic diseases.; Neuroradiology.; Neurology.; Metabolic Diseases.

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 regard...

Table of Contents:

• Principles of human genetics and Mendelian inheritance
• Newborn screening and high risk screening population for neurological inherited metabolic diseases
• Neuroimaging of inherited diseases of adulthood
• Fabry Disease
• Pompe Disease
• Niemann-Pick Disease Type C
• Wilson's Disease
• Homocystinuria. .