Neurology Of Hereditary Metabolic Diseases Of Children

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Neurology of Hereditary Metabolic Diseases of Children: Third Edition

Author : Gilles Lyon
Publisher : McGraw Hill Professional
ISBN 13 : 0071491996
Total Pages : 553 pages
Book Rating : 4.0/5 (714 download)

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Book Synopsis Neurology of Hereditary Metabolic Diseases of Children: Third Edition by : Gilles Lyon

Download or read book Neurology of Hereditary Metabolic Diseases of Children: Third Edition written by Gilles Lyon and published by McGraw Hill Professional. This book was released on 2010-05-16 with total page 553 pages. Available in PDF, EPUB and Kindle. Book excerpt: The expert, up-to-date guidance you need to identify, understand, and treat neurogenetic disorders in children Written in a readily-accessible, highly-readable style, this unique reference offers a sound starting point and clinical step-by-step approach to treating the complex and often baffling neurogenetic diseases found in children. Conveniently organized by age groups from prenatal diagnosis to neonate to childhood, each chapter begins by describing symptoms (similar to the way a patient would present), and then guides you through confirming the diagnosis and choosing the appropriate course of therapy. Completely updated to reflect the significant advances made following the discovery of the DNA sequence on the human genome, the Third Edition of Neurology of Hereditary Metabolic Diseases of Children clarifies the complicated genetics and biochemistry of these illnesses and will prove to be invaluable to the non-specialist and specialist alike. New to the Third Edition: Tables categorizing diseases by mechanisms Treatment for disorders that previously had no known treatment options Thorough discussion of new molecular, biochemical, and brain imaging tests - and how to select the one most likely to reveal a particular disease Case examples with clinical pearls Web sites and contact information for patient support groups

Neurology of Hereditary Metabolic Diseases of Children

Author : Gilles Lyon
Publisher : McGraw-Hill Professional Publishing
ISBN 13 :
Total Pages : 414 pages
Book Rating : 4.3/5 (91 download)

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Book Synopsis Neurology of Hereditary Metabolic Diseases of Children by : Gilles Lyon

Download or read book Neurology of Hereditary Metabolic Diseases of Children written by Gilles Lyon and published by McGraw-Hill Professional Publishing. This book was released on 1996 with total page 414 pages. Available in PDF, EPUB and Kindle. Book excerpt: From the author of Principles of Neurology, this guide is organized by age group, from the neonate to late childhood, and presents systematic, clinical methodology to the diagnosis and management of this difficult and often baffling group of disorders. Raymond Adams explains the distinctions between hereditary metabolic diseases and other diseases of symptomatic treatment, enzyme replacement therapy and guidelines for the prevention of disease.

Inherited Metabolic Epilepsies

Author : Phillip L. Pearl, MD
Publisher : Demos Medical Publishing
ISBN 13 : 1617050563
Total Pages : 377 pages
Book Rating : 4.6/5 (17 download)

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Book Synopsis Inherited Metabolic Epilepsies by : Phillip L. Pearl, MD

Download or read book Inherited Metabolic Epilepsies written by Phillip L. Pearl, MD and published by Demos Medical Publishing. This book was released on 2012-10-04 with total page 377 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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 leading authorities presenting state-of-the-art clinical reviews covering the science, recognition, and treatment of the inherited metabolic epilepsies and related disorders. Inherited Metabolic Epilepsies opens with a section on general principles for diagnosis and targeted intervention including screening protocols, laboratory testing, neuroimaging, seizure patterns and EEG findings, new technologies, and the ketogenic diet in metabolic epilepsies. The next two sections are devoted to the cohort of specific small molecule disorders (aminoacidopathies, organic acidopathies, mitochondrial disorders, urea cycle disorders, neurotransmitter disorders, and glucose-related disorders) and large molecule disorders (lysomal storage disorders, peroxisomal diseases, glycosylation defects, and leukodystrophies) 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 when considering an inherited metabolic disorder as the explanation for a patient with epilepsy. Inherited Metabolic Epilepsies Key Features: Presents the latest scientific thinking and clinical wisdom for a poorly understood group of disorders that have devastating consequences if unrecognized or not promptly treated Expert authorship from both the genetic-metabolic and epilepsy communities provides state-of-the-art guidance for understanding and managing these disorders A readable text for clinicians highlighting the relation between metabolic errors and epilepsy Concludes with a practical algorithm for evaluating a patient with a possible metabolic epilepsy

Inherited Metabolic Disease in Adults

Author : Carla E. M. Hollak
Publisher : Oxford University Press
ISBN 13 : 0199972133
Total Pages : 657 pages
Book Rating : 4.1/5 (999 download)

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Book Synopsis Inherited Metabolic Disease in Adults by : Carla E. M. Hollak

Download or read book Inherited Metabolic Disease in Adults written by Carla E. M. Hollak and published by Oxford University Press. This book was released on 2016 with total page 657 pages. Available in PDF, EPUB and Kindle. Book excerpt: As clinical management of inherited metabolic diseases (IMDs) has improved, more patients affected by these conditions are surviving into adulthood. This trend, coupled with the widespread recognition that IMDs can present differently and for the first time during adulthood, makes the need for a working knowledge of these diseases more important than ever. Inherited Metabolic Disease in Adults offers an authoritative clinical guide to the adult manifestations of these challenging and myriad conditions. These include both the classic pediatric-onset conditions and a number of new diseases that can manifest at any age. It is the first book to give a clear and concise overview of how this group of conditions affects adult patients, a that topic will become a growing imperative for physicians across primary and specialized care.

Inherited Metabolic Diseases

Author : Georg F. Hoffmann
Publisher : Springer Science & Business Media
ISBN 13 : 3540747230
Total Pages : 380 pages
Book Rating : 4.5/5 (47 download)

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Book Synopsis Inherited Metabolic Diseases by : Georg F. Hoffmann

Download or read book Inherited Metabolic Diseases written by Georg F. Hoffmann and published by Springer Science & Business Media. This book was released on 2009-11-21 with total page 380 pages. Available in PDF, EPUB and Kindle. Book excerpt: The explosion of insights in the field of metabolic disease has shed new light on diagnostic as well as treatment options. ‘Inherited Metabolic Disease – A Clinical Approach’ is written with a reader-friendly consistent structure. It helps the reader to find the information in an easily accessible and rapid way when needed. Starting with an overview of the major groups of metabolic disorders it includes algorithms with questions and answers as well as numerous graphs, metabolic pathways, and an expanded index. Clinical and diagnostic details with a system and symptom based are given to facilitate an efficient and yet complete diagnostic work-up of individual patients. Further, it offers helpful advice for emergency situations, such as hypoglycemia, hyperammonemia, lactic acidosis or acute encephalopathy. Five different indices allow a quick but complete orientation for common important constellations. Last but not least, it has an appendix with a guide to rapid differential diagnosis of signs and symptoms and when not to suspect metabolic disease. It will help physicians to diagnose patients they may otherwise fail to diagnose and to reduce unnecessary referrals. For metabolic and genetic specialists especially the indices will be helpful as a quick look when being called for advice. It has all it needs to become a gold standard defining the clinical practice in this field.

Pediatric Neurology, Part III

Author :
Publisher : Newnes
ISBN 13 : 0444595775
Total Pages : 731 pages
Book Rating : 4.4/5 (445 download)

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Book Synopsis Pediatric Neurology, Part III by :

Download or read book Pediatric Neurology, Part III written by and published by Newnes. This book was released on 2013-04-24 with total page 731 pages. Available in PDF, EPUB and Kindle. Book excerpt: The child is neither an adult miniature nor an immature human being: at each age, it expresses specific abilities that optimize adaptation to its environment and development of new acquisitions. Diseases in children cover all specialties encountered in adulthood, and neurology involves a particularly large area, ranging from the brain to the striated muscle, the generation and functioning of which require half the genes of the whole genome and a majority of mitochondrial ones. Human being nervous system is sensitive to prenatal aggression, is particularly immature at birth and development may be affected by a whole range of age-dependent disorders distinct from those that occur in adults. Even diseases more often encountered in adulthood than childhood may have specific expression in the developing nervous system. The course of chronic neurological diseases beginning before adolescence remains distinct from that of adult pathology – not only from the cognitive but also motor perspective, right into adulthood, and a whole area is developing for adult neurologists to care for these children with persisting neurological diseases when they become adults. Just as pediatric neurology evolved as an identified specialty as the volume and complexity of data became too much for the general pediatician or the adult neurologist to master, the discipline has now continued to evolve into so many subspecialties, such as epilepsy, neuromuscular disease, stroke, malformations, neonatal neurology, metabolic diseases, etc., that the general pediatric neurologist no longer can reasonably possess in-depth expertise in all areas, particularly in dealing with complex cases. Subspecialty expertise thus is provided to some trainees through fellowship programmes following a general pediatric neurology residency and many of these fellowships include training in research. Since the infectious context, the genetic background and medical practice vary throughout the world, this diversity needs to be represented in a pediatric neurology textbook. Taken together, and although brain malformations (H. Sarnat & P. Curatolo, 2007) and oncology (W. Grisold & R. Soffietti) are covered in detail in other volumes of the same series and therefore only briefly addressed here, these considerations justify the number of volumes, and the number of authors who contributed from all over the world. Experts in the different subspecialties also contributed to design the general framework and contents of the book. Special emphasis is given to the developmental aspect, and normal development is reminded whenever needed – brain, muscle and the immune system. The course of chronic diseases into adulthood and ethical issues specific to the developing nervous system are also addressed. A volume in the Handbook of Clinical Neurology series, which has an unparalleled reputation as the world's most comprehensive source of information in neurology International list of contributors including the leading workers in the field Describes the advances which have occurred in clinical neurology and the neurosciences, their impact on the understanding of neurological disorders and on patient care

Pediatric Neurology Part III

Author : H.A. Jinnah
Publisher : Elsevier Inc. Chapters
ISBN 13 : 0128084537
Total Pages : 732 pages
Book Rating : 4.1/5 (28 download)

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Book Synopsis Pediatric Neurology Part III by : H.A. Jinnah

Download or read book Pediatric Neurology Part III written by H.A. Jinnah and published by Elsevier Inc. Chapters. This book was released on 2013-04-24 with total page 732 pages. Available in PDF, EPUB and Kindle. Book excerpt: The purines are a group of molecules used by all cells for many vital biochemical processes including energy-requiring enzymatic reactions, cofactor-requiring reactions, synthesis of DNA or RNA, signaling pathways within and between cells, and other processes. Defects in some of the enzymes of purine metabolism are known to be associated with specific clinical disorders, and neurological problems may be a presenting sign or the predominant clinical problem for several of them. This chapter describes three disorders for which the clinical features and metabolic basis are well characterized. Deficiency of adenylosuccinate-lyase (ADSL) causes psychomotor retardation, epilepsy, and autistic features. Lesch–Nyhan disease is caused by deficiency of hypoxanthine-guanine phosphoribosyltransferase (HPRT) and is characterized by hyperuricemia, motor and cognitive disability, and self-injurious behavior. Deficiency of myoadenylate deaminase (mAMPD) is associated with myopathic features. In addition to these disorders, several other disorders are briefly summarized. These include defects of phosphoribosylpyrophosphate synthase, adenosine deaminase (ADA), purine nucleoside phosphorylase (PND), deoxyguanosine kinase (dGK), or IMP dehydrogenase (IMPDH). Each of these disorders provides an unusual window on the unique importance of purine metabolism for function of different parts of the nervous system.

Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease

Author : Roger N. Rosenberg
Publisher : Elsevier
ISBN 13 : 0124105491
Total Pages : 1465 pages
Book Rating : 4.1/5 (241 download)

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Book Synopsis Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease by : Roger N. Rosenberg

Download or read book Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease written by Roger N. Rosenberg and published by Elsevier. This book was released on 2014-10-28 with total page 1465 pages. Available in PDF, EPUB and Kindle. Book excerpt: Rosenberg’s Molecular and Genetic Basis of Neurologic and Psychiatric Disease, Fifth Edition provides a comprehensive introduction and reference to the foundations and key practical aspects relevant to the majority of neurologic and psychiatric disease. A favorite of over three generations of students, clinicians and scholars, this new edition retains and expands the informative, concise and critical tone of the first edition. This is an essential reference for general medical practitioners, neurologists, psychiatrists, geneticists, and related professionals, and for the neuroscience and neurology research community. The content covers all aspects essential to the practice of neurogenetics to inform clinical diagnosis, treatment and genetic counseling. Every chapter has been thoroughly revised or newly commissioned to reflect the latest scientific and medical advances by an international team of leading scientists and clinicians. The contents have been expanded to include disorders for which a genetic basis has been recently identified, together with abundant original illustrations that convey and clarify the key points of the text in an attractive, didactic format. Previous editions have established this book as the leading tutorial reference on neurogenetics. Researchers will find great value in the coverage of genomics, animal models and diagnostic methods along with a better understanding of the clinical implications. Clinicians will rely on the coverage of the basic science of neurogenetics and the methods for evaluating patients with biochemical abnormalities or gene mutations, including links to genetic testing for specific diseases. Comprehensive coverage of the neurogenetic foundation of neurological and psychiatric disease Detailed introduction to both clinical and basic research implications of molecular and genetic understanding of the brain Detailed coverage of genomics, animal models and diagnostic methods with new coverage of evaluating patients with biochemical abnormalities or gene mutations

Textbook of Pediatric Neurology

Author : Gerald J. Golden
Publisher : Springer Science & Business Media
ISBN 13 : 1468470299
Total Pages : 323 pages
Book Rating : 4.4/5 (684 download)

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Book Synopsis Textbook of Pediatric Neurology by : Gerald J. Golden

Download or read book Textbook of Pediatric Neurology written by Gerald J. Golden and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 323 pages. Available in PDF, EPUB and Kindle. Book excerpt: Neurological signs or symptoms are present in approximately 20% of all chil dren admitted to the hospital. These may be the reason for admission or may be part of preexisting and often unrelated problems. In ambulatory practice, acute neurological disease is not seen as frequently, but issues relating to normal and abnormal development are constantly being faced. For these reasons, familiarity with the progress of normal development and factors interfering with it, as well as knowledge of the major acute and chronic disorders of the nervous and neu romuscular systems, is important for any practitioner, specialist, or generalist who cares for children. The pathophysiology of neurological disorders in childhood is based on the same principles of the organization, structure, and function of the nervous sys tem as apply to adults. Two pitfalls are present for the student, however. First, the abnormalities are superimposed on a changing, developing brain, not a rather static, mature organ. The manifestations of the disease may vary, there fore, in seemingly unpredictable fashion depending on the rate of progression of the disorder and the rate and adequacy of the ongoing developmental changes in the nervous system. The second problem is the large number of unfa miliar conditions, many of which have no counterpart in adult neurology or medicine. These include developmental malformations, disorders specific to the neonatal period, and many hereditary and metabolic diseases.

Atlas of Neurometabolic Disorders

Author : Parvaneh Karimzadeh
Publisher : Cambridge Scholars Publishing
ISBN 13 : 1527552012
Total Pages : 178 pages
Book Rating : 4.5/5 (275 download)

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Book Synopsis Atlas of Neurometabolic Disorders by : Parvaneh Karimzadeh

Download or read book Atlas of Neurometabolic Disorders written by Parvaneh Karimzadeh and published by Cambridge Scholars Publishing. This book was released on 2020-05-19 with total page 178 pages. Available in PDF, EPUB and Kindle. Book excerpt: Neurometabolic disorders are hereditary diseases of which neurological manifestations are a prominent sign. Because some neurometabolic diseases are treatable, early detection and early intervention in patients are essential. Children without early diagnosis and treatment suffer recurrent episodes of lethargy and loss of consciousness due to environmental stresses, and these attacks can lead to metabolic decompensating and often have fatal effects. Severe neurological consequences or regression in neurodevelopmental milestones are prominent signs in patients who survive. According to these findings, physicians—especially in the fields of pediatric neurology, pediatric endocrinology, as well as pediatrics and neurology more generally—need to be familiar with these important groups of disorders in order to diagnose and treat them successfully. This atlas of neurometabolic disorders can be used as a guide, and is recommended for all pediatric specialists wishing to provide early diagnoses of pediatric patients.

Potter's Pathology of the Fetus, Infant, and Child

Author : Edith Louise Potter
Publisher : Mosby
ISBN 13 :
Total Pages : 1074 pages
Book Rating : 4.7/5 (615 download)

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Book Synopsis Potter's Pathology of the Fetus, Infant, and Child by : Edith Louise Potter

Download or read book Potter's Pathology of the Fetus, Infant, and Child written by Edith Louise Potter and published by Mosby. This book was released on 2007 with total page 1074 pages. Available in PDF, EPUB and Kindle. Book excerpt: This comprehensive reference addresses all aspects of fetal and neonatal pathology, including complicated pregnancies, multiple pregnancies, abortion, placental pathology, and disorders affecting the full-term neonate. A consistent organization allows for quick access to specific guidance, and nearly 2,500 illustrations - 2,350 in full color - depict conditions and abnormalities as they present in practice, facilitating diagnosis. An Image Bank on CD-ROM - new to this edition - features all of the illustrations from the 2-volume set, downloadable for presentations. Offers comprehensive coverage of all common and rare embryonic, fetal, and infant disorders in one source. Correlates clinical, pathologic, and genetic findings for each systemic disease. Emphasizes the genetic and molecular basis of birth defects. Features nearly 2,500 illustrations - 2,350 in full color - which depict each abnormality or condition as they present in practice. Presents practical information on autopsy techniques and protocols. Provides the latest guidance on molecular pathology, immunohistochemistry, DNA technology, and more. Offers an expanded discussion of developmental biology related to the pathogenesis of birth defects. Features user-friendly summary tables and diagnostic flow charts, making information quick and easy to find. Includes a CD-ROM featuring all of the illustrations from the 2-volume set.

Inherited Metabolic Diseases and the Brain

Author : R. Angus Harkness
Publisher : Springer
ISBN 13 : 9780792388371
Total Pages : 200 pages
Book Rating : 4.3/5 (883 download)

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Book Synopsis Inherited Metabolic Diseases and the Brain by : R. Angus Harkness

Download or read book Inherited Metabolic Diseases and the Brain written by R. Angus Harkness and published by Springer. This book was released on 1994-03-31 with total page 200 pages. Available in PDF, EPUB and Kindle. Book excerpt: The articles in Issue 4 of JOURNAL OF INHERITED METABOLIC DISEASE, Volume 16 (1993) contain the main lectures presented at the 30th Annual Symposium of the Society for the Study of Inborn Errors of Metabolism (SSIEM), Leuven, Belgium, 1992, which was dedicated to `Inherited Metabolic Diseases and the Brain'. Topics discussed included: Inborn errors and brain fluids, neurotransmitter disorders, inborn errors and demyelination, and recent developments. Participants from many countries provided a state-of-the-art review which will be of interest to clinicians and research workers alike in many different disciplines.

Forensic Pathology of Infancy and Childhood

Author : Kim A. Collins
Publisher : Springer
ISBN 13 : 9781617794025
Total Pages : 0 pages
Book Rating : 4.7/5 (94 download)

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Book Synopsis Forensic Pathology of Infancy and Childhood by : Kim A. Collins

Download or read book Forensic Pathology of Infancy and Childhood written by Kim A. Collins and published by Springer. This book was released on 2014-02-18 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: The investigation of sudden or unexplained death of children represents a unique medical and forensic area of study. Children have unique anatomic and functional characteristics that must be recognized and understood by the medical investigator. Further complicating this process is the fact that the anatomic structure, composition and function of various organs and organ systems in the pediatric population change throughout the developmental stages of childhood. The disease processes, reactions to trauma and risk factors for accidental death and homicide change from infancy through adolescence. Forensic Pathology of Infancy and Childhood provides an authoritative, comprehensive reference text devoted to the medicolegal investigation of sudden unexpected death in children. With contributions from internationally renowned experts, individual chapters focus on specific unique causes and organ systems with detailed accounts of the changes in fatal diseases, risk factors of causes of sudden death, and responses to fatal trauma that occur as a child grows from neonatal stage through infancy, toddlerhood, childhood and adolescence. This text is an essential reference resource for forensic pathologists, medical examiner offices, pediatric pathologists, pediatric hospitals, anatomic pathologists and those in training as well as those in related legal professions.

Oxford Textbook of Cognitive Neurology and Dementia

Author : Masud Husain
Publisher : Oxford University Press
ISBN 13 : 0198831080
Total Pages : 513 pages
Book Rating : 4.1/5 (988 download)

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Book Synopsis Oxford Textbook of Cognitive Neurology and Dementia by : Masud Husain

Download or read book Oxford Textbook of Cognitive Neurology and Dementia written by Masud Husain and published by Oxford University Press. This book was released on 2018-10-29 with total page 513 pages. Available in PDF, EPUB and Kindle. Book excerpt: This volume covers the dramatic developments that have occurred in basic neuroscience and clinical research in cognitive neurology and dementia. It is based on the clinical approach to the patient, and provides essential knowledge that is fundamental to clinical practice.

A Clinical Guide to Inherited Metabolic Diseases

Author : Joe T. R. Clarke
Publisher : Cambridge University Press
ISBN 13 : 1139447181
Total Pages : 360 pages
Book Rating : 4.1/5 (394 download)

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Book Synopsis A Clinical Guide to Inherited Metabolic Diseases by : Joe T. R. Clarke

Download or read book A Clinical Guide to Inherited Metabolic Diseases written by Joe T. R. Clarke and published by Cambridge University Press. This book was released on 2005-12-08 with total page 360 pages. Available in PDF, EPUB and Kindle. Book excerpt: This user-friendly clinical handbook provides a clear and concise overview of how to go about recognizing and diagnosing inherited metabolic diseases. The reader is led through the diagnostic process from the identification of those features of an illness suggesting that it might be metabolic through the selection of appropriate laboratory investigation to a final diagnosis. The book is organized into chapters according to the most prominent presenting problem of patients with inherited metabolic diseases: neurologic, hepatic, cardiac, metabolic acidosis, dysmorphism, and acute catastrophic illness in the newborn. It also includes chapters on general principles, laboratory investigation, neonatal screening, and the principles of treatment. This new edition includes much greater depth on mitochondrial disease and congenital disorders of glycosylation. The chapters on neurological syndrome and newborn screening are greatly expanded, as are those on laboratory investigation and treatment, to take account of the very latest technological developments.

Pediatric Neurology Part III

Author : Pierre Landrieu
Publisher : Elsevier Inc. Chapters
ISBN 13 : 012808412X
Total Pages : 732 pages
Book Rating : 4.1/5 (28 download)

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Book Synopsis Pediatric Neurology Part III by : Pierre Landrieu

Download or read book Pediatric Neurology Part III written by Pierre Landrieu and published by Elsevier Inc. Chapters. This book was released on 2013-04-24 with total page 732 pages. Available in PDF, EPUB and Kindle. Book excerpt: Hereditary neuropathies (HN) are categorized according to clinical presentation, pathogenic mechanism based on electrophysiology, genetic transmission, age of occurrence, and, in selected cases, pathological findings. The combination of these parameters frequently orients towards specific genetic disorders. Ruling out a neuropathy secondary to a generalized metabolic disorder remains the first pediatric concern. Primary, motor-sensory are the most frequent HN and are dominated by demyelinating AD forms (CMT1). Others are demyelinating AR forms, axonal AD/AR forms, and forms with “intermediate” electrophysiological phenotype. Pure motor HN represent40 genes with various biological functions have been found responsible for HN. Many are responsible for various phenotypes, including some without the polyneuropathic trait: for the pediatric neurologist, phenotype/genotype correlations constitute a permanent bidirectional exercise.

Neurocutaneous Disorders

Author : Martino Ruggieri
Publisher : Springer Science & Business Media
ISBN 13 : 3211695001
Total Pages : 1052 pages
Book Rating : 4.2/5 (116 download)

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Book Synopsis Neurocutaneous Disorders by : Martino Ruggieri

Download or read book Neurocutaneous Disorders written by Martino Ruggieri and published by Springer Science & Business Media. This book was released on 2009-10-01 with total page 1052 pages. Available in PDF, EPUB and Kindle. Book excerpt: The book provides an authoritative source of knowledge about these problematic disorders. It bridges the gap between clinical recognition and the new molecular medicine. The editors, distinguished clinicians and geneticists, assembled an internationally renowned group of collaborators, many of them the experts who first described a particular disorder or established its present accepted definition. They have written a practical, comprehensive guide to the recognition, investigation and management of more than 60 recognised phakomatoses.