Rare diseases collectively affect millions of Americans of all ages, but developing drugs and medical devices to prevent, diagnose, and treat these conditions is challenging.
The diseases are discussed in a uniform, easy-to-follow format--a brief description, signs and symptoms, etiology, related disorders, epidemiology, standard treatment, investigational treatment, resources, and references.The book includes a ...
This is a comprehensive major reference work for our SpringerReference program covering clinical trials.
... defined a characteristic form of peripheral retinal atrophy and nasal or “inverse” optic disc atrophy. Reversibility of the VFD has been a matter of controversy. There were several case reports, and the observation by Vesino & Veggiotti ...
... definition and clinical diagnosis. J Clin Pathol. 1977;30:395. 27. Llanos O, Hamzeh N. Sarcoidosis. Med Clin North ... Orphan diseases of the nose and paranasal sinuses: pathogenesis—clinic—ther- apy. GMS Curr Top Otorhinolaryngol ...
... atrophy ' . An arrow marks the date of the first publication identifying the link between the SMN protein and SMA ... defined molecular targets which could be considered for pharmacological intervention , this paucity is not ...
Pediatric Neuroophthalmology details the diagnostic criteria, current concepts of pathogenesis, neuroradiological correlates, and clinical management of a large group of neuroophthalmic disorders that present in childhood.
... orphan Bowen protagonist is 'ultimately subject to the manifest pressures of history and place', as was Anglo ... meaning, and the atrophy of their hearts. Linked with the old wives' tale and the uncanny, orphans disrupt orderly ...
This book provides a comprehensive accounting of recent advances in basic and clinical research that covers SMA clinical features and standards of care, multifaceted aspects of SMN protein functions and SMA disease pathology, various animal ...
This book provides a broad overview of rare disease drug development.