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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 pro...
| Clasificación: | Libro Electrónico |
|---|---|
| Autor principal: | |
| Formato: | Electrónico eBook |
| Idioma: | Inglés |
| Publicado: |
New York :
Demos Medical Pub.,
©2013.
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| Temas: | |
| Acceso en línea: | Texto completo |
MARC
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| 100 | 1 | |a Pearl, Phillip L. | |
| 245 | 1 | 0 | |a Inherited metabolic epilepsies / |c Phillip L. Pearl. |
| 260 | |a New York : |b Demos Medical Pub., |c ©2013. | ||
| 300 | |a 1 online resource (xiv, 356 pages) : |b illustrations (some color) | ||
| 336 | |a text |b txt |2 rdacontent | ||
| 337 | |a computer |b c |2 rdamedia | ||
| 338 | |a online resource |b cr |2 rdacarrier | ||
| 504 | |a Includes bibliographical references and index. | ||
| 505 | 0 | |a Cover; Title; Copyright; Dedication; Contents; Contributors; Preface; Acknowledgments; PART I. GENERAL PRINCIPLES; 1. Inherited Metabolic Epilepsies: The Top 10 Diagnoses You Cannot Afford to Miss; 2. Neuroimaging in the Metabolic Epilepsies; 3. Advances in MR Spectroscopy for Inherited Epilepsies; 4. Electroencephalography in the Metabolic Epilepsies; 5. Genetic Counseling in Metabolic Epilepsies; 6. Ketogenic Diet in Metabolic Epilepsies; PART II. SMALL MOLECULE DISEASES; 7. Amino and Organic Acid Disorders and Epilepsy; 8. Fatty Acid Oxidation Disorders and Epilepsy | |
| 505 | 8 | |a 9. Urea Cycle Disorders and Epilepsy10. Mitochondrial Diseases and Epilepsy; 11. Pyridoxine-Dependent Epilepsy and Related Conditions; 12. Tetrahydrobiopterin Deficiencies and Epilepsy; 13. Disorders of GABA Metabolism and Epilepsy; 14. Glucose Transporter Type I Deficiency Syndrome and Epilepsy; 15. DEND Syndrome: Developmental Delay, Epilepsy, and Neonatal Diabetes, a Potassium Channelopathy; 16. Hyperammonemia/Hyperinsulinism and Epilepsy; 17. Glycine Encephalopathy and Epilepsy; 18. Serine Synthesis Defects and Epilepsy; 19. Lesch-Nyhan Disease and Epilepsy | |
| 505 | 8 | |a 20. Sulfite Oxidase Deficiency/Molybdenum Cofactor Deficiency and Epilepsy21. Creatine Disorders and Epilepsy; 22. Cerebral Folate Deficiency and Epilepsy; 23. Homocysteinemias and Epilepsy; PART III. LARGE MOLECULE DISEASES; 24. Congenital Disorders of Glycosylation and Epilepsy; 25. Lysosomal Storage Diseases and Epilepsy; 26. Peroxisomal Diseases and Epilepsy; 27. Leukodystrophies and Epilepsy; PART IV. CONCLUSIONS; 28. Clinical Approach to Inherited Metabolic Epilepsies; Index | |
| 520 | |a 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. | ||
| 546 | |a English. | ||
| 590 | |a eBooks on EBSCOhost |b EBSCO eBook Subscription Academic Collection - Worldwide | ||
| 650 | 0 | |a Epilepsy |x Genetic aspects. | |
| 650 | 0 | |a Epilepsy. | |
| 650 | 0 | |a Metabolism, Inborn errors of. | |
| 650 | 1 | 2 | |a Brain Diseases, Metabolic, Inborn |x complications |
| 650 | 1 | 2 | |a Epilepsy |x etiology |
| 650 | 2 | 2 | |a Brain Diseases, Metabolic, Inborn |x diagnosis |
| 650 | 2 | 2 | |a Brain Diseases, Metabolic, Inborn |x therapy |
| 650 | 2 | 2 | |a Epilepsy |x diagnosis |
| 650 | 2 | 2 | |a Epilepsy |x therapy |
| 650 | 2 | |a Metabolism, Inborn Errors | |
| 650 | 6 | |a Maladies métaboliques congénitales. | |
| 650 | 7 | |a PSYCHOLOGY |x Neuropsychology. |2 bisacsh | |
| 650 | 7 | |a Epilepsy |2 fast | |
| 650 | 7 | |a Epilepsy |x Genetic aspects |2 fast | |
| 650 | 7 | |a Metabolism, Inborn errors of |2 fast | |
| 776 | 0 | 8 | |i Print version: |a Pearl, Phillip L. |t Inherited metabolic epilepsies. |d New York : Demos Medical Pub., ©2013 |w (DLC) 2012023320 |
| 856 | 4 | 0 | |u https://ebsco.uam.elogim.com/login.aspx?direct=true&scope=site&db=nlebk&AN=503440 |z Texto completo |
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