Neurometabolic Hereditary Diseases of Adults

• Συγγραφή απο Οργανισμό/Αρχή: SpringerLink (Online service)
• Άλλοι συγγραφείς: Burlina, Alessandro P. (Επιμελητής έκδοσης, http://id.loc.gov/vocabulary/relators/edt)
• Μορφή: Ηλεκτρονική πηγή Ηλ. βιβλίο
• Γλώσσα: English
• Έκδοση: Cham : Springer International Publishing : Imprint: Springer, 2018.
• Έκδοση: 1st ed. 2018.
• Θέματα: 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...

Πίνακας περιεχομένων:

• 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. .