Great Scientists Speak Again
نویسنده
چکیده
fantile period, toddler stage, and late childhood and adolescence. For each section there is a description of both the diseases presenting at that age period and a differential diagnosis for the symptoms manifested, such as ataxia, seizures, and dementia. In addition, for each disease there is a concise, readable section detailing the symptomatology in both its classical presentation and its variations, the genetics of the disease, laboratory tests necessary for diagnosis, and therapy. For each disease there is also presented a very good description of the underlying pathology and how this relates to the clinical symptomatology. Finally, a differential diagnosis is presented for each. Critical also to the success of this volume are the excellent chapters discussing the distinctions between hereditary metabolic diseases and other diseases afflicting the neonatal and pediatric nervous system, and special visual, auditory, cutaneous, and visceral abnormalities that aid in the diagnosis of the former problems. These chapters include numerous excellent charts of differential diagnosis and flow diagrams to help the novice approach the infant or child with symptoms of a metabolic or inherited degenerative problem. Neurology ofHereditary Metabolic Diseases is quite readable and presents a complex and often confusing array of subject material in a sensible fashion. Dr. Adams possesses the very special ability to correlate clinical symptoms of disease with the underlying neuropathology and responsible biochemical lesion. This book will be of great help to pediatricians, neurologists, and geneticists alike.
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ورودعنوان ژورنال:
- The Yale Journal of Biology and Medicine
دوره 56 شماره
صفحات -
تاریخ انتشار 1983