Positional Cloning Of The Progressive Epilepsy With Mental Retardation Gene Cln8
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Positional Cloning Of The Progressive Epilepsy With Mental Retardation Gene Cln8
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Author : Susanna Ranta
language : en
Publisher:
Release Date : 1999
Positional Cloning Of The Progressive Epilepsy With Mental Retardation Gene Cln8 written by Susanna Ranta and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 1999 with categories.
The Neuronal Ceroid Lipofuscinoses Batten Disease
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Author : Sara Mole
language : en
Publisher: OUP Oxford
Release Date : 2011-03-10
The Neuronal Ceroid Lipofuscinoses Batten Disease written by Sara Mole and has been published by OUP Oxford this book supported file pdf, txt, epub, kindle and other format this book has been release on 2011-03-10 with Medical categories.
The neuronal ceroid lipofuscinoses are an extremely rare group of inherited neurodegenerative diseases that primarily affect children. Core symptoms of these conditions typically include epilepsy, cognitive decline and visual failure. These diseases are so rare that professionals who come into contact with them need a consultative reference work that enables them to become expert, or identify who to contact for more details. Fully updated and revised, this second edition continues to be the definitive volume on this devastating group of disorders. Written by an international collection of authorities in the field, it provides invaluable advice on their diagnosis, patient care, and new treatments that are available. This new edition of the definitive reference text on the neuronal ceroid lipofuscinoses will prove useful for clinicians, family physicians, research scientists, diagnostic laboratories, families affected by the disease as well as by workers in industry planning translational research.
Neuronal Ceroid Lipofuscinosis A Multidisciplinary Update
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Author : Alessandro Simonati
language : en
Publisher: Frontiers Media SA
Release Date : 2022-12-08
Neuronal Ceroid Lipofuscinosis A Multidisciplinary Update written by Alessandro Simonati and has been published by Frontiers Media SA this book supported file pdf, txt, epub, kindle and other format this book has been release on 2022-12-08 with Medical categories.
Batten Disease Diagnosis Treatment And Research
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Author :
language : en
Publisher: Elsevier
Release Date : 2001-04-23
Batten Disease Diagnosis Treatment And Research written by and has been published by Elsevier this book supported file pdf, txt, epub, kindle and other format this book has been release on 2001-04-23 with Medical categories.
This title will present all current knowledge of Batten disease from research to clinical evaluation. NCL is not well recognized in underdeveloped countries because the diagnostic technology is lacking. With the information in this volume, however, a specific diagnosis of NCL could be made. Also, specific familial mutations obtained through genetic tests may guide prenatal diagnoses for at-risk families.
Genetics Abstracts
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Author :
language : en
Publisher:
Release Date : 2000
Genetics Abstracts written by and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2000 with Genetics categories.
Wiley Encyclopedia Of Molecular Medicine Volume 2
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Author : Wiley
language : en
Publisher: Wiley-Interscience
Release Date : 2001-11-01
Wiley Encyclopedia Of Molecular Medicine Volume 2 written by Wiley and has been published by Wiley-Interscience this book supported file pdf, txt, epub, kindle and other format this book has been release on 2001-11-01 with Science categories.
Sphingolipid Biology
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Author : Y. Hirabayashi
language : en
Publisher: Springer Science & Business Media
Release Date : 2007-12-31
Sphingolipid Biology written by Y. Hirabayashi and has been published by Springer Science & Business Media this book supported file pdf, txt, epub, kindle and other format this book has been release on 2007-12-31 with Science categories.
Sphingolipids are fundamental to the structures of cell membranes, lipoproteins, and the stratum cornea of the skin. Many complex sphingolipids, as well as simpler sphingoid bases and derivatives, are highly bioactive as extra- and intracellular regulators of growth, differentiation, migration, survival, senescence, and numerous cellular responses to stress. This book reviews exciting new developments in sphingolipid biology/sphingolipidology that challenge our understanding of how multicellular organisms grow, develop, function, age, and die.
Jasper S Basic Mechanisms Of The Epilepsies
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Author : Jeffrey Noebels
language : en
Publisher: OUP USA
Release Date : 2012-06-29
Jasper S Basic Mechanisms Of The Epilepsies written by Jeffrey Noebels and has been published by OUP USA this book supported file pdf, txt, epub, kindle and other format this book has been release on 2012-06-29 with Medical categories.
Jasper's Basic Mechanisms, Fourth Edition, is the newest most ambitious and now clinically relevant publishing project to build on the four-decade legacy of the Jasper's series. In keeping with the original goal of searching for "a better understanding of the epilepsies and rational methods of prevention and treatment.", the book represents an encyclopedic compendium neurobiological mechanisms of seizures, epileptogenesis, epilepsy genetics and comordid conditions. Of practical importance to the clinician, and new to this edition are disease mechanisms of genetic epilepsies and therapeutic approaches, ranging from novel antiepileptic drug targets to cell and gene therapies.
Lysosomes
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Author : Frederick R. Maxfield
language : en
Publisher: John Wiley & Sons
Release Date : 2016-06-22
Lysosomes written by Frederick R. Maxfield and has been published by John Wiley & Sons this book supported file pdf, txt, epub, kindle and other format this book has been release on 2016-06-22 with Medical categories.
Discussing recent findings, up-to-date research, and novel strategies, the book integrates perspectives from pharmacology, toxicology, and biochemistry to illustrate the potential of lysosomes in drug discovery and development. • Explores basic principles and properties of lysosomes that allow them to act as regulators of cell metabolism, therapeutic targets, and sites for activation of drug conjugates • Discusses the role of lysosomes in metabolism, drug targeting, apoptosis, cancer, aging, inflammation, autophagy, metabolism, toxicity, and membrane repair • Introduces new pathways in therapeutic development and new mechanisms in drug development
Child Neurology
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Author : John H. Menkes
language : en
Publisher: Lippincott Williams & Wilkins
Release Date : 2006
Child Neurology written by John H. Menkes and has been published by Lippincott Williams & Wilkins this book supported file pdf, txt, epub, kindle and other format this book has been release on 2006 with Medical categories.
Revised to incorporate the latest advances in the neurosciences and clinical neurology, the Seventh Edition of this classic text provides practical, cost-effective problem-solving approaches to all diseases affecting the developing nervous system. In clinically relevant terms, the book explains how recent developments in molecular biology, genetics, neurochemistry, neurophysiology, neuropathology, and neuroimaging impact on diagnosis and treatment. Chapters focus on specific disorders or groups of disorders and emphasize differential diagnosis, disease course, treatment, and prognosis. This edition has a new chapter on mitochondrial cytopathies.