Lysosomal Storage Disorders Molecular Basis And Therapeutic Approaches

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Lysosomal Storage Disorders

Author : Enrico Moro
Publisher : Mdpi AG
ISBN 13 : 9783036519678
Total Pages : 320 pages
Book Rating : 4.5/5 (196 download)

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Book Synopsis Lysosomal Storage Disorders by : Enrico Moro

Download or read book Lysosomal Storage Disorders written by Enrico Moro and published by Mdpi AG. This book was released on 2021-11-12 with total page 320 pages. Available in PDF, EPUB and Kindle. Book excerpt: Lysosomal storage disorders are a heterogenoeus group of rare genetic conditions affecting worldwide population and often exhibiting severe clinical manifestations. During the last two decades, the joined collaboration between scientists and clinicians has allowed to offer valuable therapeutic options to affected patients. Therefore, the tight connection between basic science and clinical medicine represents the gold standard approach to these disorders. In this context, the present book collects a piece of current scientific advances in the knowledge of disease pathogenesis and in the development of novel diagnostic and therapeutic strategies for some of these diseases. Altogether, these articles define and recapitulate which essential steps are required during the clinical management of a rare inherited disorder and describe forthcoming advances and a breakthrough in the field of lysosomal diseases.

Molecular Basis of Lysosomal Storage Disorders

Author : John Barranger
Publisher : Elsevier
ISBN 13 : 0323147283
Total Pages : 523 pages
Book Rating : 4.3/5 (231 download)

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Book Synopsis Molecular Basis of Lysosomal Storage Disorders by : John Barranger

Download or read book Molecular Basis of Lysosomal Storage Disorders written by John Barranger and published by Elsevier. This book was released on 2012-12-02 with total page 523 pages. Available in PDF, EPUB and Kindle. Book excerpt: Molecular Basis of Lysosomal Storage Disorders contains the proceedings of the 1983 Conference on the Molecular Basis of Lysosomal Storage Disorders, held at the National Institutes of Health in Bethesda, Maryland. The papers focus on the molecular biology of, and therapeutic approaches to, lysosomal storage disorders, such as mucopolysaccharidoses, sphingolipidoses, and Gaucher disease. Organized into six sections comprised of 29 chapters, this book begins with an overview of enzymes, activator proteins, and stabilizers that underlie lysosomal storage disorders. It then discusses some developments in enzyme purification, receptors for glycoprotein enzymes, factors that control endocytosis, and the intracellular fate of lysosomal hydrolases. Some chapters explain the enzyme biosynthesis, bone marrow transplantation, and enzyme replacement, along with cell hybridization, chromosome localization, phenotype discrimination, and cloning of genes for human lysosomal enzymes. This book is helpful to biochemists, physiologists, pathologists, geneticists, clinical investigators, and practicing physicians concerned with the study, care, and treatment of patients with hereditary metabolic disorders, as well as undergraduate and graduate level students involved in research in this discipline.

Lysosomal Storage Disorders

Author : John A. Barranger
Publisher : Springer Science & Business Media
ISBN 13 : 0387709096
Total Pages : 563 pages
Book Rating : 4.3/5 (877 download)

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Book Synopsis Lysosomal Storage Disorders by : John A. Barranger

Download or read book Lysosomal Storage Disorders written by John A. Barranger and published by Springer Science & Business Media. This book was released on 2007-10-16 with total page 563 pages. Available in PDF, EPUB and Kindle. Book excerpt: The knowledge of lysosomal biology and the consequences of its dysfunction have increased dramatically in the past 60 years. This book describes the nature of the lysosomal dysfunction and diseases as well as potential future treatments and therapies. Disease specific chapters provide thorough reviews of the clinical features of lysosomal storage disorders, their molecular basis and the commercial or experimental therapeutic approaches sought in this area. This is an invaluable resource for researchers in biochemical and molecular genetics, enzyme therapy, and gene transfer.

Lysosomal Storage Disorders

Author : John A. Barranger
Publisher : Springer
ISBN 13 : 9780387709086
Total Pages : 0 pages
Book Rating : 4.7/5 (9 download)

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Book Synopsis Lysosomal Storage Disorders by : John A. Barranger

Download or read book Lysosomal Storage Disorders written by John A. Barranger and published by Springer. This book was released on 2007-10-01 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: The knowledge of lysosomal biology and the consequences of its dysfunction have increased dramatically in the past 60 years. This book describes the nature of the lysosomal dysfunction and diseases as well as potential future treatments and therapies. Disease specific chapters provide thorough reviews of the clinical features of lysosomal storage disorders, their molecular basis and the commercial or experimental therapeutic approaches sought in this area. This is an invaluable resource for researchers in biochemical and molecular genetics, enzyme therapy, and gene transfer.

The Molecular Basis of Animal Models of Lysosomal Storage Diseases

Author : Christopher George Barker
Publisher :
ISBN 13 :
Total Pages : 482 pages
Book Rating : 4.:/5 (728 download)

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Book Synopsis The Molecular Basis of Animal Models of Lysosomal Storage Diseases by : Christopher George Barker

Download or read book The Molecular Basis of Animal Models of Lysosomal Storage Diseases written by Christopher George Barker and published by . This book was released on 1988 with total page 482 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Lysosomal Storage Diseases

Author : Rossella Parini
Publisher : John Libbey Eurotext
ISBN 13 : 2742007792
Total Pages : 196 pages
Book Rating : 4.7/5 (42 download)

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Book Synopsis Lysosomal Storage Diseases by : Rossella Parini

Download or read book Lysosomal Storage Diseases written by Rossella Parini and published by John Libbey Eurotext. This book was released on 2010 with total page 196 pages. Available in PDF, EPUB and Kindle. Book excerpt: The last fifteen years have witnessed the extraordinary evolution of basic and clinical research in the field of lysoso-mal storage diseases (LSDs), transforming many of them from dire, untreatable progressive diseases to conditions that allow for possible cure or mitigation. In addition to the presently employed techniques of haematopoietic stem cell transplantation and enzyme replacement for a number of lysoso-mal storage diseases, other therapeutic approaches are being developed that are based on different principles. The awareness that the efficacy of treatment is greater if adminis-tered at the first signs of disease or, even better, during the pre-symptomatic phase underscores the urgency of early clinical diagnosis. Efforts are being made to improve the clinical acumen of paediatricians, paediatric surgeons and neurologists, rheumatologists, orthopaedists, and other professionals who come into early contact with children with LSDs. The possibility of including some of these disorders in routine neonatal screening is also a matter of discussion. This volume provides an updated overview of epidemiologic, biochemical, genetic, pathogenetic, and clinical aspects of these disorders and outlines the various treatment options currently available for the LSDs. The need for patients with rare diseases like LSDs to be followed-up in a specialised centre is emphasised in view of the many kinds of multidisciplinary treatment that are needed to improve the quality of life and survival of these children.

The Molecular Basis of the Lysosomal Storage Disorder Mannosidosis

Author : Isabelle Cenci Di Bello
Publisher :
ISBN 13 :
Total Pages : 205 pages
Book Rating : 4.:/5 (728 download)

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Book Synopsis The Molecular Basis of the Lysosomal Storage Disorder Mannosidosis by : Isabelle Cenci Di Bello

Download or read book The Molecular Basis of the Lysosomal Storage Disorder Mannosidosis written by Isabelle Cenci Di Bello and published by . This book was released on 1988 with total page 205 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Lysosomal Storage Disorders

Author : Atul B. Mehta
Publisher : John Wiley & Sons
ISBN 13 : 1119697255
Total Pages : 340 pages
Book Rating : 4.1/5 (196 download)

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Book Synopsis Lysosomal Storage Disorders by : Atul B. Mehta

Download or read book Lysosomal Storage Disorders written by Atul B. Mehta and published by John Wiley & Sons. This book was released on 2022-07-11 with total page 340 pages. Available in PDF, EPUB and Kindle. Book excerpt: Lysosomal Storage Disorders Enables readers to gain both holistic and specific knowledge on the topic of Lysosomal Storage Disorders In the past few decades, we have witnessed a ‘golden age’ of Lysosomal Storage Disorders (LSDs) clinical care, diagnosis, and research and this book is a well-timed review of the rapidly developing subject of LSDs. Contributions from many leading scientists and clinicians in the field provide the reader with a completely comprehensive overview of the subject. Topics covered in the book include: The general aspects of LSDs, with special attention paid to physiology and pathology Clinical and laboratory diagnosis, including newborn screening and the genetics of LSDs Individual LSDs, such as the various sphingolipidoses, mucopolysaccharidoses, glycogen storage disease, glycoproteinoses, galactosialidosis, and neuronal ceroid lipofuscinoses Other disorders of the lysosome, including those involving defects in the lysosomal membrane and in the emerging roles of the lysosome in cellular metabolism The existing and emerging treatments for LSDs Key patient issues such as availability and disease awareness, including in the Third World. For researchers and industry professionals in the field of LSDs, this book serves as a completely comprehensive reference work to understand both theoretical concepts and how they may be used in practical applications. For students of LSDs, it provides a solid base of foundational knowledge and serves as a practical guide.

Lysosomal Storage Disorders

Author : Gregory M. Pastores
Publisher : World Scientific
ISBN 13 : 9814271322
Total Pages : 179 pages
Book Rating : 4.8/5 (142 download)

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Book Synopsis Lysosomal Storage Disorders by : Gregory M. Pastores

Download or read book Lysosomal Storage Disorders written by Gregory M. Pastores and published by World Scientific. This book was released on 2010 with total page 179 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book presents an overview of lysosomal storage disorders, and provides the reader with an understanding of clinical features, associated complications, and diagnosis and management approaches. It also describes historical developments in the field and current thinking relating to pathophysiology and prospective therapeutic strategies. The book is written by an expert in the field who has been engaged in both basic and clinical research, in addition to having extensive practical experience in patient care. It is written from the perspective of someone who entered the field just as treatment was being introduced, and who has been engaged in the seminal clinical trials and the development of therapeutic guidelines. It offers a broad perspective and should appeal to both novices and experts in the field who seek a single resource that provides a comprehensive picture of relevant topics on this subject. A multi-faceted volume, the author addresses the issue of diagnosis and patient management, underlying mechanisms of disease, sources of morbidity and treatment options, covering issues of interest to both the basic scientist and the clinician. Sample Chapter(s). Foreword (34 KB). Chapter 1: Introduction (1,266 KB). Contents: Clinical Perspectives; Diagnostic Confirmation and Screening Protocols; Assessment of Disease Burden and Assignment of Disease Severity; Pathophysiology and Biomarkers; Current and Emerging Therapies; Future Prospects. Readership: Graduate medical students, nurses, genetic counselors and physicians.

A Study of the Molecular Basis of the Lysosomal Storage Disorder Fucosidosis

Author :
Publisher :
ISBN 13 :
Total Pages : 446 pages
Book Rating : 4.:/5 (94 download)

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Book Synopsis A Study of the Molecular Basis of the Lysosomal Storage Disorder Fucosidosis by :

Download or read book A Study of the Molecular Basis of the Lysosomal Storage Disorder Fucosidosis written by and published by . This book was released on 1995 with total page 446 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Lysosomal Disorders of the Brain

Author : Steven U. Walkley
Publisher :
ISBN 13 :
Total Pages : 496 pages
Book Rating : 4.3/5 (91 download)

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Book Synopsis Lysosomal Disorders of the Brain by : Steven U. Walkley

Download or read book Lysosomal Disorders of the Brain written by Steven U. Walkley and published by . This book was released on 2004 with total page 496 pages. Available in PDF, EPUB and Kindle. Book excerpt: Lysosomal storage diseases are inherited metabolic disorders characterized by severe pathology, typically involving the brain. Although individually rare, they collectively represent a significant group of diseases that primarily present in early infancy or childhood. In recent yearsconsiderable progress has been made in understanding the molecular mechanisms that lead to disordered function of the lysosomal system and to lysosomal storage. Unravelling the basis for these diseases is providing unique insight into the normal biology of cells and pointing the way to thedevelopment of therapeutic strategies for their treatment. Lysosomal Disorders of Brain details recent advances in the molecular and cellular pathologies of these diseases and in the development of effective therapies. After an overview of the biology of the endosomal-lysosomal system and the types of diseases resulting from defects in this system, thebook describes in detail the molecular mechanisms of storage, model systems and pathophysiological mechanisms, and finally, new advances toward treatment. With each chapter written by leading experts in their field, this book will be valuable for scientists and clinicians in helping them understandthe role of lysosomes in normal cells and mechanisms underlying these disorders, how they can be diagnosed, and the treatment options that are currently available.

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.

Liver Disease in Children

Author : Frederick J. Suchy
Publisher : Cambridge University Press
ISBN 13 : 1108911374
Total Pages : 875 pages
Book Rating : 4.1/5 (89 download)

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Book Synopsis Liver Disease in Children by : Frederick J. Suchy

Download or read book Liver Disease in Children written by Frederick J. Suchy and published by Cambridge University Press. This book was released on 2021-03-18 with total page 875 pages. Available in PDF, EPUB and Kindle. Book excerpt: Liver disease in children is increasing in prevalence, placing a huge burden on healthcare systems and often requiring long-term management. Offering an integrative approach to the science and clinical practice of pediatric hepatology, this is the definitive reference text for improved diagnosis and treatment strategies. In the new edition of this authoritative text, chapters have been thoroughly revised in line with major advances in the field, such as recognizing the increased frequency of fatty liver disease, and how genetic testing has the potential to establish earlier diagnoses for a variety of diseases. Disorders covered include cholestasis, metabolic disorders and hepatitis, with their presentation across the spectrum of infancy, childhood and adolescence discussed. The indications and surgical aspects of liver transplant are explained and post-transplant care is described in detail. This is a valuable resource for pediatricians, hepatologists, gastroenterologists and all clinicians involved in the care of children with liver diseases.

Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases

Author : Nenad Blau
Publisher : Springer
ISBN 13 : 3642403379
Total Pages : 880 pages
Book Rating : 4.6/5 (424 download)

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Book Synopsis Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases by : Nenad Blau

Download or read book Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases written by Nenad Blau and published by Springer. This book was released on 2014-07-08 with total page 880 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book, combining and updating two previous editions, is a unique source of information on the diagnosis, treatment, and follow-up of metabolic diseases. The clinical and laboratory data characteristic of rare metabolic conditions can be bewildering for both clinicians and laboratory personnel. Reference laboratory data are scattered, and clinical descriptions may be obscure. The Physician’s Guide documents the features of more than five hundred conditions, grouped according to type of disorder, organ system affected (e.g. liver, kidney, etc) or phenotype (e.g. neurological, hepatic, etc). Relevant clinical findings are provided and pathological values for diagnostic metabolites highlighted. Guidance on appropriate biochemical genetic testing is provided. Established experimental therapeutic protocols are described, with recommendations on follow-up and monitoring. The authors are acknowledged experts, and the book will be a valuable desk reference for all who deal with inherited metabolic diseases.

The Neuronal Ceroid Lipofuscinoses (Batten Disease)

Author : Sara Mole
Publisher : OUP Oxford
ISBN 13 : 019101558X
Total Pages : 480 pages
Book Rating : 4.1/5 (91 download)

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Book Synopsis The Neuronal Ceroid Lipofuscinoses (Batten Disease) by : Sara Mole

Download or read book The Neuronal Ceroid Lipofuscinoses (Batten Disease) written by Sara Mole and published by OUP Oxford. This book was released on 2011-03-10 with total page 480 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Disorders of Voluntary Muscle

Author : George Karpati
Publisher : Cambridge University Press
ISBN 13 : 9780521650625
Total Pages : 800 pages
Book Rating : 4.6/5 (56 download)

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Book Synopsis Disorders of Voluntary Muscle by : George Karpati

Download or read book Disorders of Voluntary Muscle written by George Karpati and published by Cambridge University Press. This book was released on 2001-07-12 with total page 800 pages. Available in PDF, EPUB and Kindle. Book excerpt: Rewritten and redesigned, this remains the one essential text on the diseases of skeletal muscle.

Metabolic Diseases

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

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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.