Diagnosis Of Human Peroxisomal Disorders

Download Diagnosis Of Human Peroxisomal Disorders full books in PDF, epub, and Kindle. Read online Diagnosis Of Human Peroxisomal Disorders ebook anywhere anytime directly on your device. Fast Download speed and no annoying ads. We cannot guarantee that every ebooks is available!

Diagnosis of human peroxisomal disorders

Author : Frank Roels
Publisher : Springer Science & Business Media
ISBN 13 : 9401196354
Total Pages : 234 pages
Book Rating : 4.4/5 (11 download)

DOWNLOAD NOW!

Book Synopsis Diagnosis of human peroxisomal disorders by : Frank Roels

Download or read book Diagnosis of human peroxisomal disorders written by Frank Roels and published by Springer Science & Business Media. This book was released on 2013-06-29 with total page 234 pages. Available in PDF, EPUB and Kindle. Book excerpt: Peroxisomal disorders constitute a major research front in clinical genetics, paediatrics and cell biology. Since 1983, the metabolic defect in some 20 different peroxisomal disorders has been described. The best known conditions include Zellweger syndrome, rhizomelic chondrodysplasia punctata and X-linked adrenoleukodystrophy and, in the most recent edition of The Metabolic and Molecular Basis Inherited Disease, edited by Scriver and colleagues, more than 100 pages are now devoted to the subject. Progress in our understanding of these conditions, and their diagnosis, results from the application of a variety of laboratory investigations. These include microscopic studies, analysis of metabolites (very long-chain fatty acids, bile acids, and plasmalogens), enzyme studies (peroxisomal beta-oxidation pathway and dihydroxyacetone phosphate acyltransferase), immunodetection of peroxisomal (membrane) proteins and molecular analysis of mutant DNA. In order to encourage a greater awareness in this field and the diagnostic protocols required, an international course was organised in Gent, Belgium, in May 1994, on the clinical and biochemical diagnosis of peroxisomal disorders. A number of international experts in the field who provided intensive hands-on experience over 3.5 days, have now collected their course work and reviews together in this Handbook. The volume is introduced by Sidney Goldfischer, who in 1973 was the first to recognise the absence of peroxisomes in Zellweger syndrome, but whose observations were not fully appreciated for a further decade. This handbook provides the most comprehensive and detailed account of laboratory methods for the diagnosis of peroxisomal disorders. The methods are clearly presented and well illustrated, and should allow laboratories to introduce these methods into their repertoire. Audience: Paediatricians, neurologists, clinical biochemists, pathologists, genetic counsellors, obstetricians, and GPs interested in the recognition, diagnosis and prenatal prevention of peroxisomal disorders.

Peroxisome Biology: Experimental Models, Peroxisomal Disorders and Neurological Diseases

Author : Gérard Lizard
Publisher : Springer Nature
ISBN 13 : 3030602044
Total Pages : 209 pages
Book Rating : 4.0/5 (36 download)

DOWNLOAD NOW!

Book Synopsis Peroxisome Biology: Experimental Models, Peroxisomal Disorders and Neurological Diseases by : Gérard Lizard

Download or read book Peroxisome Biology: Experimental Models, Peroxisomal Disorders and Neurological Diseases written by Gérard Lizard and published by Springer Nature. This book was released on 2021-01-08 with total page 209 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book provides an overview of the biology and biochemistry of peroxisomes, and discusses the contribution of these organelles to peroxisomal and neurodegenerative diseases. It begins with a detailed introduction to the biogenesis and metabolic functions of peroxisomes, and highlights their role in oxidative stress and in lipid metabolism such as fatty acid oxidation. The following chapters focus on the molecular and clinical aspects of peroxisomal disorders caused by defects in peroxisomal function. In particular, the biological aspects of peroxisomal biogenesis disorders such as Zellweger syndrome and Heimler syndrome are discussed. This includes their underlying genetic causes as well as the biochemical and metabolic defects associated with the disorders. In addition, several chapters cover recent observations suggesting an association between peroxisomal dysfunction and neurodegenerative diseases such as Alzheimer's, Multiple Sclerosis and other degenerative cerebellar pathologies. The final section of the book discusses important cell and animal models for studying the role of peroxisomes in human diseases and presents current therapeutic strategies for their treatment. This book deals with a highly topical subject that is at the heart of current research, and represents a valuable contribution for all students and researchers who want to understand the complex biology of peroxisomes and their role in human diseases.

Peroxisomes: Biogenesis, Function, and Role in Human Disease

Author : Tsuneo Imanaka
Publisher : Springer
ISBN 13 : 9789811511684
Total Pages : 0 pages
Book Rating : 4.5/5 (116 download)

DOWNLOAD NOW!

Book Synopsis Peroxisomes: Biogenesis, Function, and Role in Human Disease by : Tsuneo Imanaka

Download or read book Peroxisomes: Biogenesis, Function, and Role in Human Disease written by Tsuneo Imanaka and published by Springer. This book was released on 2020-01-17 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book provides readers with a comprehensive overview of peroxisomes and their role in human diseases. It starts by describing the history of peroxisome research and then examines in detail the current understanding of the biogenesis and function of peroxisomes. It then focuses on peroxisomal disorders and the involvement of peroxisomes in cancer and age-related diseases, discussing in detail the use of model organisms to elucidate the pathogenesis of peroxisomal disorders and the physiological importance of peroxisomal proteins. Further, the book examines diagnostic and therapeutic strategies in peroxisomal disorders as well as significant recent advances. Lastly, it addresses various topics in peroxisome research, including the isolation of peroxisomes from mammalian tissues and cells, the structural biology of peroxisomal proteins, the lipidomics of peroxisomal disorders, the value of exome sequencing, and neuropsychological testing in X-linked adrenoleukodystrophy. Given its scope, the book is a valuable resource for postgraduate students and researchers in the life sciences and clinicians in the fields of internal medicine, pediatrics, and neurology.

NORD Guide to Rare Disorders

Author : National Organization for Rare Disorders
Publisher : Lippincott Williams & Wilkins
ISBN 13 : 9780781730631
Total Pages : 982 pages
Book Rating : 4.7/5 (36 download)

DOWNLOAD NOW!

Book Synopsis NORD Guide to Rare Disorders by : National Organization for Rare Disorders

Download or read book NORD Guide to Rare Disorders written by National Organization for Rare Disorders and published by Lippincott Williams & Wilkins. This book was released on 2003 with total page 982 pages. Available in PDF, EPUB and Kindle. Book excerpt: NORD Guide to Rare Disorders is a comprehensive, practical, authoritative guide to the diagnosis and management of more than 800 rare diseases. The diseases are discussed in a uniform, easy-to-follow format--a brief description, signs and symptoms, etiology, related disorders, epidemiology, standard treatment, investigational treatment, resources, and references.The book includes a complete directory of orphan drugs, a full-color atlas of visual diagnostic signs, and a Master Resource List of support groups and helpful organizations. An index of symptoms and key words offers physicians valuable assistance in finding the information they need quickly.

Peroxisomes

Author : Michael Schrader
Publisher : Springer Nature
ISBN 13 : 1071630482
Total Pages : 507 pages
Book Rating : 4.0/5 (716 download)

DOWNLOAD NOW!

Book Synopsis Peroxisomes by : Michael Schrader

Download or read book Peroxisomes written by Michael Schrader and published by Springer Nature. This book was released on 2023-03-23 with total page 507 pages. Available in PDF, EPUB and Kindle. Book excerpt: This fully updated volume assembles a comprehensive collection of methods, techniques, and strategies to investigate the molecular and cellular biology of peroxisomes in different organisms. Peroxisome research is on the rise, as novel functions and proteins of this dynamic organelle are still being discovered through studies in model systems including humans, mice, flies, plants, fungi, and yeast, and this progress is reflected in the chapters included in this collection. Written for the highly successful Methods in Molecular Biology series, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step and readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls. Authoritative and up-to-date, Peroxisomes: Methods and Protocols, Second Edition serves as an ideal guide for researchers working on peroxisome- and organelle-based research questions.

The Metabolic & Molecular Bases of Inherited Disease

Author : Charles R. Scriver
Publisher : New York ; Montreal : McGraw-Hill
ISBN 13 : 9780071363198
Total Pages : 6338 pages
Book Rating : 4.3/5 (631 download)

DOWNLOAD NOW!

Book Synopsis The Metabolic & Molecular Bases of Inherited Disease by : Charles R. Scriver

Download or read book The Metabolic & Molecular Bases of Inherited Disease written by Charles R. Scriver and published by New York ; Montreal : McGraw-Hill. This book was released on 2001 with total page 6338 pages. Available in PDF, EPUB and Kindle. Book excerpt: Presents clinical, biochemical, and genetic information concerning those metabolic anomalies grouped under inborn errors of metabolism.

Molecular Machines Involved in Peroxisome Biogenesis and Maintenance

Author : Cecile Brocard
Publisher : Springer
ISBN 13 : 3709117887
Total Pages : 540 pages
Book Rating : 4.7/5 (91 download)

DOWNLOAD NOW!

Book Synopsis Molecular Machines Involved in Peroxisome Biogenesis and Maintenance by : Cecile Brocard

Download or read book Molecular Machines Involved in Peroxisome Biogenesis and Maintenance written by Cecile Brocard and published by Springer. This book was released on 2014-07-23 with total page 540 pages. Available in PDF, EPUB and Kindle. Book excerpt: In eukaryotes, lipid metabolism requires the function of peroxisomes. These multitasking organelles are also part of species-specific pathways such as the glyoxylate cycle in yeast and plants or the synthesis of ether lipid in mammals. Proteins required for the biogenesis of peroxisomes typically assemble in large molecular complexes, which participate in membrane formation, protein transport, peroxisome duplication and - inheritance during cell division. Peroxisomal function is essential for life. Mutations in PEX genes, encoding for biogenesis factors, are often associated with lethal disorders. The association of peroxisomes with other organelles suggests an extensive participation in organellar crosstalk. This book represents a state-of-the-art review in the field of peroxisome research encompassing the cell and molecular biology of peroxisome biogenesis and its diseases, the protein complexes involved in this process and the modern technologies applied to study them. The book is intended for graduate students, researchers and lecturers in biochemistry, molecular and cell biology with a biomedical background.

Peroxisomes: Biogenesis, Function, and Role in Human Disease

Author : Tsuneo Imanaka
Publisher : Springer Nature
ISBN 13 : 9811511691
Total Pages : 284 pages
Book Rating : 4.8/5 (115 download)

DOWNLOAD NOW!

Book Synopsis Peroxisomes: Biogenesis, Function, and Role in Human Disease by : Tsuneo Imanaka

Download or read book Peroxisomes: Biogenesis, Function, and Role in Human Disease written by Tsuneo Imanaka and published by Springer Nature. This book was released on 2020-01-16 with total page 284 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book provides readers with a comprehensive overview of peroxisomes and their role in human diseases. It starts by describing the history of peroxisome research and then examines in detail the current understanding of the biogenesis and function of peroxisomes. It then focuses on peroxisomal disorders and the involvement of peroxisomes in cancer and age-related diseases, discussing in detail the use of model organisms to elucidate the pathogenesis of peroxisomal disorders and the physiological importance of peroxisomal proteins. Further, the book examines diagnostic and therapeutic strategies in peroxisomal disorders as well as significant recent advances. Lastly, it addresses various topics in peroxisome research, including the isolation of peroxisomes from mammalian tissues and cells, the structural biology of peroxisomal proteins, the lipidomics of peroxisomal disorders, the value of exome sequencing, and neuropsychological testing in X-linked adrenoleukodystrophy. Given its scope, the book is a valuable resource for postgraduate students and researchers in the life sciences and clinicians in the fields of internal medicine, pediatrics, and neurology.

Magnetic Resonance of Myelin, Myelination, and Myelin Disorders

Author : Jacob Valk
Publisher : Springer Science & Business Media
ISBN 13 : 366202568X
Total Pages : 734 pages
Book Rating : 4.6/5 (62 download)

DOWNLOAD NOW!

Book Synopsis Magnetic Resonance of Myelin, Myelination, and Myelin Disorders by : Jacob Valk

Download or read book Magnetic Resonance of Myelin, Myelination, and Myelin Disorders written by Jacob Valk and published by Springer Science & Business Media. This book was released on 2013-04-17 with total page 734 pages. Available in PDF, EPUB and Kindle. Book excerpt: Magnetic resonance imaging (MRI) is now considered the imaging modality of choice for the majority of disorders affecting the central nervous system. This is particularly true for gray and white matter disorders, thanks to the superb soft tis sue contrast in MRI which allows gray matter, unmyelinated, and myelinated white matter to be distinguished and their respective disorders identified. The pre sent book is devoted to the disorders of myelin and myelination. A growing amount of detailed in vivo information about myelin, myelination, and myelin dis orders has been derived both from MRI and from MR spectroscopy (MRS). This prompted us to review the clinical, laboratory, biochemical, and pathological data on this subject in order to integrate all available information and to provide im proved insights into normal and disordered myelin and myelination. We will show how the synthesis of all available information contributes to the interpretation of MR images. After a brief historical review about the increasing knowledge on myelin and my elin disorders, we propose a new classification of myelin disorders based on the subcellular localization of the enzymatic defects as far as the inborn errors of me tabolism are concerned. This classification serves as a guide throughout the book. All items of the classification will be discussed and, whenever relevant and possi ble, be illustrated by MR images.

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)

DOWNLOAD NOW!

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.

Genetic Disorders and the Fetus

Author : Aubrey Milunsky
Publisher : Springer Science & Business Media
ISBN 13 : 1468451553
Total Pages : 910 pages
Book Rating : 4.4/5 (684 download)

DOWNLOAD NOW!

Book Synopsis Genetic Disorders and the Fetus by : Aubrey Milunsky

Download or read book Genetic Disorders and the Fetus written by Aubrey Milunsky and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 910 pages. Available in PDF, EPUB and Kindle. Book excerpt: About 21 years ago prenatal diagnosis became part of the physician's diagnostic armamentarium against genetic defects. My first monograph in 1973 (The Prenatal Diagnosis of Hereditary Disorders) critically assessed early progress and enunciated basic principles in the systematic approach to prenatal genetic diagnosis. Six years later and under the current title, a subsequent volume provided the first major reference source on this subject. The present second (effectively third) edition, which was urged in view of the excellent reception of the two earlier volumes, reflects the remarkable growth of this new discipline and points to significant and exciting future developments. Notwithstanding these advances, the use of the new tools and techniques for the benefit of at-risk parents has taken many more years than most anticipated. Key factors have been the lack of teaching of human genetics in medical schools in the preceding decades and the difficulty of educating practicing physicians in a new scientific disci pline. Even today the teaching of genetics in medical schools leaves much to be desired and this will further delay the introduction of newer genetic advances to the bedside.

Metabolic Diseases

Author : E. Gilbert-Barness
Publisher : IOS Press
ISBN 13 : 1614997187
Total Pages : 960 pages
Book Rating : 4.6/5 (149 download)

DOWNLOAD NOW!

Book Synopsis Metabolic Diseases by : E. Gilbert-Barness

Download or read book Metabolic Diseases written by E. Gilbert-Barness and published by IOS Press. This book was released on 2017-01-06 with total page 960 pages. Available in PDF, EPUB and Kindle. Book excerpt: The 2nd Edition of Metabolic Diseases provides readers with a completely updated description of the Foundations of Clinical Management, Genetics, and Pathology. A distinguished group of 31 expert authors has contributed 25 chapters as a tribute to Enid Gilbert-Barness and the late Lewis Barness--- both pioneers in this topic. Enid’s unique perspectives on the pathology of genetic disorders and Lew’s unsurpassed knowledge of metabolism integrated with nutrition have inspired the contributors to write interdisciplinary descriptions of generally rare, and always challenging, hereditary metabolic disorders. Discussions of these interesting genetic disorders are organized in the perspective of molecular abnormalities leading to morphologic disturbances with distinct pathology and clinical manifestations. The book emphasizes recent advances such as development of improved diagnostic methods and discovery of new, more effective therapies for many of the diseases. It includes optimal strategies for diagnosis and information on access to specialized laboratories for specific testing. The target audience is a wide variety of clinicians, including pediatricians, neonatologists, obstetricians, maternal-fetal specialists, internists, pathologists, geneticists, and laboratorians engaged in prenatal and/or neonatal screening. In addition, all scientists and health science professionals interested in metabolic diseases will find the comprehensive, integrated chapters informative on the latest discoveries. It is our hope that the 2nd Edition will open new avenues and vistas for our readers and that they will share with us the interest, excitement and passion of the research into all these challenging disorders.

The Causes of Epilepsy

Author : Simon Shorvon
Publisher : Cambridge University Press
ISBN 13 : 1108420753
Total Pages : 1013 pages
Book Rating : 4.1/5 (84 download)

DOWNLOAD NOW!

Book Synopsis The Causes of Epilepsy by : Simon Shorvon

Download or read book The Causes of Epilepsy written by Simon Shorvon and published by Cambridge University Press. This book was released on 2019-05-02 with total page 1013 pages. Available in PDF, EPUB and Kindle. Book excerpt: Expanded and revised, this unique book provides concise descriptions of the many causes of epilepsy, for use in clinical practice.

Atlas of Metabolic Diseases Second edition

Author : William Nyhan
Publisher : CRC Press
ISBN 13 : 144411459X
Total Pages : 801 pages
Book Rating : 4.4/5 (441 download)

DOWNLOAD NOW!

Book Synopsis Atlas of Metabolic Diseases Second edition by : William Nyhan

Download or read book Atlas of Metabolic Diseases Second edition written by William Nyhan and published by CRC Press. This book was released on 2005-08-26 with total page 801 pages. Available in PDF, EPUB and Kindle. Book excerpt: In a field where even experts may find that years have elapsed since they last encountered a child with a given disorder, it is essential for the clinician to have a comprehensive source of practical and highly illustrated information covering the whole spectrum of metabolic disease to refer to. The second edition of this highly regarded book, auth

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

Author : Roger N. Rosenberg
Publisher : Elsevier
ISBN 13 : 0124105491
Total Pages : 1464 pages
Book Rating : 4.1/5 (241 download)

DOWNLOAD NOW!

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 1464 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

Lipobiology

Author : G. J. van der Vusse
Publisher : Gulf Professional Publishing
ISBN 13 : 9780444514967
Total Pages : 640 pages
Book Rating : 4.5/5 (149 download)

DOWNLOAD NOW!

Book Synopsis Lipobiology by : G. J. van der Vusse

Download or read book Lipobiology written by G. J. van der Vusse and published by Gulf Professional Publishing. This book was released on 2004 with total page 640 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics

Author : Reed E. Pyeritz
Publisher : Academic Press
ISBN 13 : 0128152370
Total Pages : 320 pages
Book Rating : 4.1/5 (281 download)

DOWNLOAD NOW!

Book Synopsis Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics by : Reed E. Pyeritz

Download or read book Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics written by Reed E. Pyeritz and published by Academic Press. This book was released on 2021-11-02 with total page 320 pages. Available in PDF, EPUB and Kindle. Book excerpt: Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics: Perinatal and Reproductive Genetics, Seventh Edition includes the latest information on seminal topics such as prenatal diagnosis, genome and exome sequencing, public health genetics, genetic counseling, and management and treatment strategies in this growing field. The book is ideal for medical students, residents, physicians and researchers involved in the care of patients with genetic conditions. This comprehensive, yet practical resource emphasizes theory and research fundamentals related to applications of medical genetics across the full spectrum of inherited disorders and applications to medicine more broadly. Chapters from leading international researchers and clinicians focus on topics ranging from single gene testing to whole genome sequencing, whole exome sequencing, gene therapy, genome editing approaches, FDA regulations on genomic testing and therapeutics, and ethical aspects of employing genomic technologies. Fully revised and up-to-date, this new edition introduces genetic researchers, students and healthcare professionals to genomic technologies, testing and therapeutic applications Examines key topics and developing methods within genomic testing and therapeutics, including single gene testing, whole genome and whole exome sequencing, gene therapy and genome editing, variant Interpretation and classification, and ethical aspects of applying genomic technologies Includes color images that support the identification, concept illustration, and method of processing Features contributions by leading international researchers and practitioners of medical genetics Provides a robust companion website that offers further teaching tools and links to outside resources and articles to stay up-to-date on the latest developments in the field