Neurometabolic Hereditary Diseases of Adults

Libreria Studium snc

Via Falloppio, 61 - PADOVA

+39.049.8751435

+39.351.9617779

8.30-12.30 / 15.00-19.00

Sabato pomeriggio chiuso

Punto di Riferimento
per Medici e Operatori Sanitari

LIBRERIA STUDIUM

Libreria medica internazionale

- PADOVA -

LIBRERIA STUDIUM

0,00 €

Neurometabolic Hereditary Diseases of Adults

Editore

Springer

Anno

2018

Pagine

181

ISBN

9783319761466

I prezzi indicati possono subire variazioni poiché soggetti all'oscillazione dei cambi delle valute e/o agli aggiornamenti effettuati dagli Editori.

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