Hypophosphatasia A Systemic Skeletal Disorder Caused By Alkaline Phosphatase Deficiency

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Hypophosphatasia: A Systemic Skeletal Disorder Caused by Alkaline Phosphatase Deficiency

Author : Hideo Orimo
Publisher :
ISBN 13 :
Total Pages : pages
Book Rating : 4.:/5 (115 download)

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Book Synopsis Hypophosphatasia: A Systemic Skeletal Disorder Caused by Alkaline Phosphatase Deficiency by : Hideo Orimo

Download or read book Hypophosphatasia: A Systemic Skeletal Disorder Caused by Alkaline Phosphatase Deficiency written by Hideo Orimo and published by . This book was released on 2018 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt: Hypophosphatasia (HPP) is an inherited systemic bone disease caused by the deficiency of tissue-nonspecific alkaline phosphatase (TNAP). HPP is classified into six forms and the symptoms of HPP vary depending on the form. The pathophysiology of HPP is basically due to a defect of bone mineralization. TNAP is encoded by the ALPL gene, and the TNAP protein expressed in bone, kidney, liver, and neuronal cells and is linked to the cell membrane via a glycosylphosphatidylinositol anchor. TNAP is an ectoenzyme hydrolyzing phosphate compound such as inorganic pyrophosphate. TNAP plays an important role in mineralization of hard tissues. Defect of mineralization process causes hypomineralization of hard tissues, which leads to rickets or osteomalacia and dental manifestations. In addition, hypomineralization of the ribs results in respiratory failure in the severe forms, which is the main cause of death. Inheritance of HPP is autosomal recessive, but autosomal dominant cases have been reported in the milder forms. To date, a total of 335 mutations in the ALPL gene have been reported, and mutation sites are scattered throughout the gene. Recent development of enzyme replacement therapy has opened up a new vista on the treatment of this previously untreatable disease.

Primer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism

Author : Juliet E. Compston
Publisher : John Wiley & Sons
ISBN 13 : 0470623985
Total Pages : 559 pages
Book Rating : 4.4/5 (76 download)

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Book Synopsis Primer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism by : Juliet E. Compston

Download or read book Primer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism written by Juliet E. Compston and published by John Wiley & Sons. This book was released on 2009-12-22 with total page 559 pages. Available in PDF, EPUB and Kindle. Book excerpt: EDITOR-IN-CHIEF: Clifford J. Rosen, M.D., Maine Medical Center Research Institute, Scarborough, Maine SENIOR ASSOCIATE EDITORS: Juliet E. Compston, M.D., FRCP, University of Cambridge School of Clinical Medicine, Cambridge, United Kingdom Jane B. Lian, Ph.D., University of Massachusetts Medical School, Worcester, Massachusetts This comprehensive yet concise handbook is an indispensable reference for the many clinicians who see patients with disorders of bone formation, metabolic bone diseases, or disorders of stone formation. It is also a crucial tool for researchers, students, and all other professionals working in the bone field. In a format designed for quick reference, it provides complete information on the symptoms, pathophysiology, diagnosis, and treatment of all common and rare bone and mineral disorders. New in this edition: detailed coverage of osteonecrosis of the jaw, more in-depth coverage of cancer and bone including new approaches to pathogenesis, diagnosis, and treatment; new approaches to anabolic therapy of osteoporosis; the latest research on Vitamin D; expanded coverage of international topics; more on the genetics of bone mass; and newer imaging techniques for the skeleton. In addition, this edition features a free, online-only appendix of medicines used to treat bone disorders and their availability around the world.

Pathophysiology

Author : David C. Gaze
Publisher : BoD – Books on Demand
ISBN 13 : 1789231809
Total Pages : 226 pages
Book Rating : 4.7/5 (892 download)

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Book Synopsis Pathophysiology by : David C. Gaze

Download or read book Pathophysiology written by David C. Gaze and published by BoD – Books on Demand. This book was released on 2018-05-30 with total page 226 pages. Available in PDF, EPUB and Kindle. Book excerpt: Pathophysiology is the convergence of pathology (the discipline of observed changes in a diseased state) with physiology (the mechanisms of systems operation). It represents the functional changes that occur because of injury or disease. This volume provides state-of-the-art up-to-date literature reviews on pathophysiological processes in a number of disease states. The book is organised methodically in a head-to-toe systems approach examining aspects of neuropathophysiology, endocrine pathophysiology, structural biology, renal pathophysiology and genitourinary pathophysiology. This short volume on pathophysiology is intended for general medical and biomedical students at both undergraduate and postgraduate levels. In addition, it is a useful short update of recent advances in research and translational biology to those working in academia or healthcare science.

Genetics of Bone Biology and Skeletal Disease

Author : Rajesh V. Thakker
Publisher : Academic Press
ISBN 13 : 0128041986
Total Pages : 880 pages
Book Rating : 4.1/5 (28 download)

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Book Synopsis Genetics of Bone Biology and Skeletal Disease by : Rajesh V. Thakker

Download or read book Genetics of Bone Biology and Skeletal Disease written by Rajesh V. Thakker and published by Academic Press. This book was released on 2017-10-31 with total page 880 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genetics of Bone Biology and Skeletal Disease, Second Edition, is aimed at students of bone biology and genetics and includes general introductory chapters on bone biology and genetics. More specific disease orientated chapters comprehensively summarize the clinical, genetic, molecular, animal model, molecular pathology, diagnostic, counseling, and treatment aspects of each disorder. The book is organized into five sections that each emphasize a particular theme, general background to bone biology, general background to genetics and epigenetics, disorders of bone and joint, parathyroid and related disorders, and vitamin D and renal disorders. The first section is specifically devoted to providing an overview of bone biology and structure, joint and cartilage biology, principles of endocrine regulation of bone, and the role of neuronal regulation and energy homeostasis. The second section reviews the principles and progress of medical genetics and epigenetics related to bone disease, including genome-wide association studies (GWAS), genomic profiling, copy number variation, prospects of gene therapy, pharmacogenomics, genetic testing and counseling, as well as the generation and utilizing of mouse models. The third section details advances in the genetics and molecular biology of bone and joint diseases, both monogenic and polygenic, as well as skeletal dysplasias, and rarer bone disorders. The fourth section highlights the central role of the parathyroids in calcium and skeletal homeostasis by reviewing the molecular genetics of: hyperparathyroidism, hypoparathyrodism, endocrine neoplasias, and disorders of the PTH and calcium-sensing receptors. The fifth section details molecular and cellular advances across associated renal disorders such as vitamin D and rickets. - Identifies and analyzes the genetic basis of bone disorders in humans and demonstrates the utility of mouse models in furthering the knowledge of mechanisms and evaluation of treatments - Demonstrates how the interactions between bone and joint biology, physiology, and genetics have greatly enhanced the understanding of normal bone function as well as the molecular pathogenesis of metabolic bone disorders - Summarizes the clinical, genetic, molecular, animal model, molecular pathology, diagnostic, counseling, and treatment aspects of each disorder

Pediatric Bone

Author : Francis H. Glorieux
Publisher : Academic Press
ISBN 13 : 0123820405
Total Pages : 885 pages
Book Rating : 4.1/5 (238 download)

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Book Synopsis Pediatric Bone by : Francis H. Glorieux

Download or read book Pediatric Bone written by Francis H. Glorieux and published by Academic Press. This book was released on 2011-09-28 with total page 885 pages. Available in PDF, EPUB and Kindle. Book excerpt: Pediatric osteology, a medical specialty that has come of age, has contributed to the understanding of adult bone diseases as well. This second edition reference updates the 2003 edition with more emphasis on management as well as new and revised contributions. Thirty chapters present basic information regarding bone development, tools and techniques for evaluation (including a new chapter on radiographic imaging), and the specifics of various diseases. The three editors are affiliated as follows: Francis H. Glorieux (McGill U., Canada), John M. Pettifor (Chir Hani Baragwanath Hospital, South Africa), and Harald Juppner (Harvard Medical School, US). Academic Press is an imprint of Elsevier. Annotation ©2012 Book News, Inc., Portland, OR (booknews.com).

Molecular and Genetic Basis of Renal Disease

Author : David B. Mount
Publisher : Elsevier Health Sciences
ISBN 13 : 1416002529
Total Pages : 604 pages
Book Rating : 4.4/5 (16 download)

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Book Synopsis Molecular and Genetic Basis of Renal Disease by : David B. Mount

Download or read book Molecular and Genetic Basis of Renal Disease written by David B. Mount and published by Elsevier Health Sciences. This book was released on 2008-01-01 with total page 604 pages. Available in PDF, EPUB and Kindle. Book excerpt: This companion to Brenner and Rector's The Kidney offers a state-of-the-art summary of the most recent advances in renal genetics. Molecular and Genetic Basis for Renal Disease provides the nephrologist with a comprehensive look at modern investigative tools in nephrology research today, and reviews the molecular pathophysiology of the nephron as well as the most common genetic and acquired renal diseases. A comprehensive clinical review of Medelian renal disease is also be included. Detailed review of the molecular anatomy and pathophysiology of the nephron that provides relevant basic science to consider when diagnosing and managing patients with these disorders.

Mammalian Alkaline Phosphatases

Author : José Luis Millan
Publisher : John Wiley & Sons
ISBN 13 : 3527607471
Total Pages : 337 pages
Book Rating : 4.5/5 (276 download)

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Book Synopsis Mammalian Alkaline Phosphatases by : José Luis Millan

Download or read book Mammalian Alkaline Phosphatases written by José Luis Millan and published by John Wiley & Sons. This book was released on 2006-12-13 with total page 337 pages. Available in PDF, EPUB and Kindle. Book excerpt: A review and discussion of new knowledge on the structure and function of mammalian alkaline phosphatases (APs) gained over the last 25 years. It covers: * The structure, regulation and expression of the AP genes * The three-dimensional structure of APs and mutagenesis work that further defined the structural/functional domains of the isozymes * The phenotypic abnormalities of the different AP knockout mice * Our current understanding of the in vivo role of the AP isozymes. The book also describes the possible use of APs as therapeutic agents and therapeutic targets and the many uses of these enzymes in clinical medicine and in biotechnology.

Phosphatase Modulators

Author : José Luis Millán
Publisher : Humana
ISBN 13 : 9781493960316
Total Pages : 0 pages
Book Rating : 4.9/5 (63 download)

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Book Synopsis Phosphatase Modulators by : José Luis Millán

Download or read book Phosphatase Modulators written by José Luis Millán and published by Humana. This book was released on 2016-08-23 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Driving further the research on mammalian alkaline phosphatase structure and function, Phosphatase Modulators collects expert contributions into one “how to” manual for basic scientists interested in initiating a drug discovery effort. While this book contains the traditional method chapters and some typical reviews on the structure and known functions of phosphatases, other contributions are meant to discuss approaches and alternatives useful in making “go/no-go” decisions in high throughput screening (HTS) and lead optimization campaigns. Many chapters focus on tissue-nonspecific alkaline phosphatase (TNAP) as well as protein phosphatases. Written for the highly successful Methods in Molecular Biology series, chapters in this volume include the kind of detail and key implementation advice that promotes reproducible results. Step-by-step and practical, Phosphatase Modulators offers a path to understanding many of the facets and complexities associated with undertaking a drug discovery effort and will serve as a roadmap to initiating those efforts.

Therapeutic Enzymes: Function and Clinical Implications

Author : Nikolaos Labrou
Publisher : Springer Nature
ISBN 13 : 981137709X
Total Pages : 388 pages
Book Rating : 4.8/5 (113 download)

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Book Synopsis Therapeutic Enzymes: Function and Clinical Implications by : Nikolaos Labrou

Download or read book Therapeutic Enzymes: Function and Clinical Implications written by Nikolaos Labrou and published by Springer Nature. This book was released on 2019-09-03 with total page 388 pages. Available in PDF, EPUB and Kindle. Book excerpt: Therapeutic enzymes exhibit fascinating features and opportunities, and represent a significant and promising subcategory of modern biopharmaceuticals for the treatment of several severe diseases. Research and drug developments efforts and the advancements in biotechnology over the past twenty years have greatly assisted the introduction of efficient and safe enzyme-based therapies for a range of both rare and common disorders. The introduction and regulatory approval of twenty different recombinant enzymes has enabled effective enzyme-replacement therapy. This volume aims to overview these therapeutic enzymes, focusing in particular on more recently approved enzymes produced by recombinant DNA technology. This volume is composed of four sections. Section 1 provides an overview of the production process and biochemical characterization of therapeutic enzymes, while Section 2 focuses upon the engineering strategies and delivery methods of therapeutic enzymes. Section 3 highlights the clinical applications of approved therapeutic enzymes, including aspects on their structure, indications and mechanisms of action. Together with information on these mechanisms, safety and immunogenicity issues and various adverse events of the recombinant enzymes used for therapy are discussed. Section 4, provides discussion on the prospective and future developments of new therapeutic enzymes. This book is aimed at academics, researchers and students undertaking advanced undergraduate/postgraduate programs in the biopharmaceutical/biotechnology area who wish to gain a comprehensive understanding of enzyme-based therapeutic molecules.

General Orthopaedics and Basic Science

Author : Nikolaos K. Paschos
Publisher : Springer
ISBN 13 : 3319921932
Total Pages : 189 pages
Book Rating : 4.3/5 (199 download)

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Book Synopsis General Orthopaedics and Basic Science by : Nikolaos K. Paschos

Download or read book General Orthopaedics and Basic Science written by Nikolaos K. Paschos and published by Springer. This book was released on 2019-03-04 with total page 189 pages. Available in PDF, EPUB and Kindle. Book excerpt: This volume of the Orthopaedic Study Guide Series provides the foundation of general orthopedic and basic science. Chapters of this book cohere around three aspects of the musculoskeletal system, anatomy, physiology, and pathology. Next to basic principles, case reports underline key information relating to disorders, diagnosis, and treatment options. Written by leading experts, this volume is a concise guide designed as quick reference, thereby it presents a useful resource for orthopedic residents and fellows.

Oxford Textbook of Rheumatology

Author : Philip Conaghan
Publisher : Oxford University Press
ISBN 13 : 0199642486
Total Pages : 1553 pages
Book Rating : 4.1/5 (996 download)

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Book Synopsis Oxford Textbook of Rheumatology by : Philip Conaghan

Download or read book Oxford Textbook of Rheumatology written by Philip Conaghan and published by Oxford University Press. This book was released on 2013-10 with total page 1553 pages. Available in PDF, EPUB and Kindle. Book excerpt: A strong clinical emphasis is present throughout this volume from the first section of commonly presenting problems through to the section addressing problems shared with a range of other clinical sub-specialties.

Principles of Bone Biology

Author : John P. Bilezikian
Publisher : Academic Press
ISBN 13 : 0080568750
Total Pages : 2074 pages
Book Rating : 4.0/5 (85 download)

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Book Synopsis Principles of Bone Biology by : John P. Bilezikian

Download or read book Principles of Bone Biology written by John P. Bilezikian and published by Academic Press. This book was released on 2008-09-29 with total page 2074 pages. Available in PDF, EPUB and Kindle. Book excerpt: Principles of Bone Biology provides the most comprehensive, authoritative reference on the study of bone biology and related diseases. It is the essential resource for anyone involved in the study of bone biology. Bone research in recent years has generated enormous attention, mainly because of the broad public health implications of osteoporosis and related bone disorders. - Provides a "one-stop" shop. There is no need to search through many research journals or books to glean the information one wants...it is all in one source written by the experts in the field - The essential resource for anyone involved in the study of bones and bone diseases - Takes the reader from the basic elements of fundamental research to the most sophisticated concepts in therapeutics - Readers can easily search and locate information quickly as it will be online with this new edition

Clinical Gynecology

Author : Eric J. Bieber
Publisher : Cambridge University Press
ISBN 13 : 1107040396
Total Pages : 1127 pages
Book Rating : 4.1/5 (7 download)

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Book Synopsis Clinical Gynecology by : Eric J. Bieber

Download or read book Clinical Gynecology written by Eric J. Bieber and published by Cambridge University Press. This book was released on 2015-04-23 with total page 1127 pages. Available in PDF, EPUB and Kindle. Book excerpt: Written with the busy practice in mind, this book delivers clinically focused, evidence-based gynecology guidance in a quick-reference format. It explores etiology, screening, tests, diagnosis, and treatment for a full range of gynecologic health issues. The coverage includes the full range of gynecologic malignancies, reproductive endocrinology and infertility, infectious diseases, urogynecologic problems, gynecologic concerns in children and adolescents, and surgical interventions including minimally invasive surgical procedures. Information is easy to find and absorb owing to the extensive use of full-color diagrams, algorithms, and illustrations. The new edition has been expanded to include aspects of gynecology important in international and resource-poor settings.

Dento/Oro/Craniofacial Anomalies and Genetics

Author : Agnes Bloch-Zupan
Publisher : Elsevier
ISBN 13 : 0124160387
Total Pages : 265 pages
Book Rating : 4.1/5 (241 download)

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Book Synopsis Dento/Oro/Craniofacial Anomalies and Genetics by : Agnes Bloch-Zupan

Download or read book Dento/Oro/Craniofacial Anomalies and Genetics written by Agnes Bloch-Zupan and published by Elsevier. This book was released on 2012-03-21 with total page 265 pages. Available in PDF, EPUB and Kindle. Book excerpt: Dental defects may be the physical expression of genetic defects, and so they can often be seen in a variety of syndromes associated with malformations of organs. However, dental defects are often not recognized, identified, nor characterised despite representing a possible diagnostic sign for an undiagnosed condition. This book addresses this gap by providing an understanding of dental genetics and its developmental biology counterpart. With approximately seventy well-illustrated examples, the authors present the clinical oro-facial manifestations accompanying various syndromes, providing the necessary knowledge for diagnostic purposes, as well as giving insight into recent development for each specific condition. The clarity and format of this book make it an ideal support guide both in the clinic and while conducting research. Comprehensive examination of dento/oro/craniofacial anomalies Well-illustrated examples Presented in a compact, easy to use format

Osteogenesis Imperfecta

Author : Javaid Kassim
Publisher : Academic Press
ISBN 13 : 0123977894
Total Pages : 578 pages
Book Rating : 4.1/5 (239 download)

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Book Synopsis Osteogenesis Imperfecta by : Javaid Kassim

Download or read book Osteogenesis Imperfecta written by Javaid Kassim and published by Academic Press. This book was released on 2013-08-06 with total page 578 pages. Available in PDF, EPUB and Kindle. Book excerpt: Osteogenesis Imperfecta is the first translational reference professionals can turn to for a source of comprehensive information on this disorder. Although several reviews of the field have been published in various journals, there is no other single source for a compendium of current information. Separate chapters discuss each of the several clinical features of OI. Ethical issues related to OI are discussed, as is the importance of nutrition in managing the OI child and the OI adult. The role of physical medicine and rehabilitation for OI patients is also presented, along with the current status of OI medical treatment and the prospects for genetic engineering in the future. The text also provides the orthopedic surgeon with an advanced discussion of surgical techniques applicable to OI. - Incorporates chapters and information on the ethical issues related to osteogenesis imperfecta (OI) as will the importance of nutrition in managing the OI child and the OI adult - Offers new insights into the underlying mechanisms of collagen biochemistry as related to OI as well as a presentation of intracellular collagen processing and the expanded role of protein chaperones in OI - Discusses the role of physical medicine and rehabilitation for OI patients and the current status of OI medical treatment as well as prospects for genetic engineering in the future - Provides a unique overview for the orthopedic surgeon with an advanced discussion of surgical techniques applicable to OI

Studies in Stomatology and Craniofacial Biology

Author : Meyer Michael Cohen
Publisher : IOS Press
ISBN 13 : 9789051992830
Total Pages : 658 pages
Book Rating : 4.9/5 (928 download)

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Book Synopsis Studies in Stomatology and Craniofacial Biology by : Meyer Michael Cohen

Download or read book Studies in Stomatology and Craniofacial Biology written by Meyer Michael Cohen and published by IOS Press. This book was released on 1997 with total page 658 pages. Available in PDF, EPUB and Kindle. Book excerpt: Studies in Stomatology and Craniofacial Biology contains 33 papers under the general headings of developmental biology, developmental pathology, acquired pathology, and gene therapy. The book covers the basic science of stomatology (diseases of the mouth) and craniofacial biology in general. The subject matter is wide in scope and utilizes a variety of modern molecular and genetic approaches. Major topics are covered such as: Developmental Biology; Developmental Pathology; Acquired Pathology; Gene Therapy. This book will be of great interest to researchers in genetics, embryology, bone biology, dental science, microbiology and oncology.

Neuronal Tissue-Nonspecific Alkaline Phosphatase (TNAP)

Author : Caroline Fonta
Publisher : Springer
ISBN 13 : 9401771979
Total Pages : 401 pages
Book Rating : 4.4/5 (17 download)

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Book Synopsis Neuronal Tissue-Nonspecific Alkaline Phosphatase (TNAP) by : Caroline Fonta

Download or read book Neuronal Tissue-Nonspecific Alkaline Phosphatase (TNAP) written by Caroline Fonta and published by Springer. This book was released on 2015-07-28 with total page 401 pages. Available in PDF, EPUB and Kindle. Book excerpt: Phosphatases, such as TNAP are fundamental in regulating the roles of cellular, and consequently numerous body functions. TNAP is a ubiquitous enzyme with a wide spectrum of substrates and specificity. Regulation at the cellular level and the lack of TNAP activity is a lethal condition. Recent findings of a highly specific regional, laminar and subcellular localization of TNAP in the cerebral cortex indicates that in addition to its metabolic and skeletal functions, TNAP also plays a role in regulating cerebral functions, most probably cognition. In fact, TNAP disturbance could result in complex diseases such as epilepsy, developmental retardation and Alzheimer's disease. Available data suggest that, regarding brain functions, TNAP is a potentially important target of clinical research. This book aims to provide an overview of our current understanding of the functions of TNAP in the brain and on other tissues and organs.