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Inherited Metabolic Epilepsies
The explosion of information in neurogenetics and metabolism mandates increasing awareness of appropriate diagnostic and therapeutic strategies in the setting of certain epilepsies, especially those of very early onset. There are over 200 inherited disorders that are associated with seizures and prompt identification and intervention is crucial for a positive outcome. This text brings together the leading authorities working in this area to present state-of-the-art clinical reviews covering the science, recognition, and treatment of the inherited metabolic epilepsies and related disorders. The book begins with general principles for diagnosis and targeted intervention including screening protocols, laboratory testing, seizure patterns and EEG findings, imaging, new technologies, and the ketogenic diet. The next two sections are devoted to the cohort of specific small molecule and large molecule disorders that are treatable yet can be so vexing to clinicians and investigators. The book concludes with a clinical algorithm designed to be a resource for the physician in search of direction while considering an inherited metabolic disorder as the explanation for a patient with epilepsy.
Tietz's Applied Laboratory Medicine
Using a problem-based approach, Tietz's Applied Laboratory Medicine, Second Edition presents interesting cases to illustrate the current use and interpretation of the most commonly available clinical laboratory tests. The cases present detailed descriptions of the symptoms, diagnosis, and treatment of disease. The book begins with an up-to-date general discussion of selection and use of laboratory diagnostic and prognostic tests. Cases are then grouped by category, including cardiovascular, pulmonary, renal, liver, gastrointestinal, endocrine, gynaecologic & obstetrical, haematological, CNS, lipid, congenital, toxicological, infectious, and autoimmune diseases. Tietz's Applied Laboratory Med...
Urban Highways
None
Gout
Practical advice on dealing with the condition.
Physician's Guide to the Laboratory Diagnosis of Metabolic Diseases
Delay and mistakes in the diagnosis of inherited metabolic diseases may have devastating consequences. Reference laboratory data are scattered and clinical descriptions of rare conditions are hard to locate. This book describes 298 disorders, grouped into 35 chapters according to the type of condition. Within each group of disorders, chapters provide tables of pertinent clinical findings as well as reference and pathological values for crucial metabolites. Relevant metabolic pathways and diagnostic flow charts are included. There are four indices to make the book as user-friendly as possible: Disorders index, Signs and symptoms index, Organs index, and Tests index. The Physician's Guide provides paediatricians and other physicians with a unique aid to help them select the correct diagnosis from a bewildering array of complex clinical and laboratory data. The book includes a CD-ROM with search function.
Fundamentals and Techniques
Fundamentals and Techniques
