Structure Of The Human Liver Bone Kidney Alkaline Phosphatase Gene And The Genetic Basis For Hypophosphatasia

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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

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.

Phosphate Metabolism

Author : Shaul Massry
Publisher : Springer Science & Business Media
ISBN 13 : 1461342171
Total Pages : 611 pages
Book Rating : 4.4/5 (613 download)

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Book Synopsis Phosphate Metabolism by : Shaul Massry

Download or read book Phosphate Metabolism written by Shaul Massry and published by Springer Science & Business Media. This book was released on 2013-11-21 with total page 611 pages. Available in PDF, EPUB and Kindle. Book excerpt: We present to our readers the proceedings of the Second International Workshop on Phosphate. A short account of the history of the effort led to the Phosphate Workshops is appro priate and can be of interest to the reader. The idea for Phosphate Workshops was born in the early days of November, 1974. One of us (S. G. M. ) suggested the thought to a group of scientists gathered for a luncheon in one of the attrac tive small restaurants in Weisbaden, Germany. The purpose of the workshop was to bring together interested scientists to discuss the newer developments and the recent advances in the field of phosphate metabolism and the other related minerals. An Organizing Committee made of Shaul G. Massry (USA), Louis V. Avioli (USA), Philippe Bordier (France), Herbert Fleisch (Switzerland), and Eduardo Slatopolsky (USA) was formed. The First Workshop was held in Paris during June 5-6, 1975 and was hosted by Dr. Philippe Bordier. Its proceeding was already published. The Second Workshop took place in Heidelberg during June 28-30, 1976 and was hosted by Dr. Eberhard Ritz. Both of these workshops were extremely successful scientific endeavors, and the need for them was demonstrated by the great interest they generated among the scientific community. The Or ganizing Committee, therefore, decided to continue with the tradi tion to hold additional Workshops annually or every other year.

Bone Pathology

Author : Jasvir S. Khurana
Publisher : Springer Science & Business Media
ISBN 13 : 1597453471
Total Pages : 419 pages
Book Rating : 4.5/5 (974 download)

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Book Synopsis Bone Pathology by : Jasvir S. Khurana

Download or read book Bone Pathology written by Jasvir S. Khurana and published by Springer Science & Business Media. This book was released on 2009-12-02 with total page 419 pages. Available in PDF, EPUB and Kindle. Book excerpt: Bone Pathology is the second edition of the book, A Compendium of Skeletal Pathology that published 10 years ago. Similar to the prior edition, this book complements standard pathology texts and blends new but relatively established information on the molecular biology of the bone. Serving as a bench-side companion to the surgical pathologist, this new edition reflects new advances in our understanding of the molecular biology of bone. New chapters on soft-tissue sarcomas and soft-tissue tumors have been added as well as several additional chapters such as Soft-tissue pathology and Biomechanics. The volume is written by experts who are established in the field of musculoskeletal diseases. Bone Pathology is a combined effort from authors of different specialties including surgeons, pathologists, radiologists and basic scientists all of whom have in common an interest in bone diseases. It will be of great value to surgical pathology residents as well as practicing pathologists, skeletal radiologists, orthopedic surgeons and medical students.

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.

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.

The Metabolic & Molecular Bases of Inherited Disease

Author :
Publisher :
ISBN 13 :
Total Pages : 1306 pages
Book Rating : 4.3/5 (91 download)

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Book Synopsis The Metabolic & Molecular Bases of Inherited Disease by :

Download or read book The Metabolic & Molecular Bases of Inherited Disease written by and published by . This book was released on 2001 with total page 1306 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Pediatric Hepatology and Liver Transplantation

Author : Lorenzo D'Antiga
Publisher : Springer
ISBN 13 : 3319964003
Total Pages : 817 pages
Book Rating : 4.3/5 (199 download)

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Book Synopsis Pediatric Hepatology and Liver Transplantation by : Lorenzo D'Antiga

Download or read book Pediatric Hepatology and Liver Transplantation written by Lorenzo D'Antiga and published by Springer. This book was released on 2019-04-29 with total page 817 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book is the first to provide balanced examination of both pediatric liver disease and liver transplantation – two topics that are inherently related, given that most chronic liver disorders eventually require organ replacement. The different forms of liver disease encountered in the pediatric age group are first discussed in a series of disease-specific chapters that have a reader-friendly, uniform structure covering pathophysiology, diagnostic and treatment algorithms, clinical cases, and transition to adult care. Key topics in the field of liver transplantation are then addressed. Examples include indications and contraindications, surgical techniques and complications, immunosuppression, in pediatric liver transplantation, acute and chronic rejection and allograft dysfunction, and CMV and EBV infection in transplant recipients, long-term graft injury and tolerance. A section on pediatric hepatology across the world includes chapters presenting the features and management of pediatric liver disease in South-America, Africa and Asia. A closing section considers what the future holds for pediatric liver disease and its management, including novel genetic testing, cell therapy and gene therapy. Pediatric Hepatology and Liver Transplantation will be of value for a range of practitioners, from residents making their first approach to pediatric liver disease through to specialists working in transplantation centers.

The Genetics of Osteoporosis and Metabolic Bone Disease

Author : Michael J. Econs
Publisher : Springer Science & Business Media
ISBN 13 : 1592590330
Total Pages : 465 pages
Book Rating : 4.5/5 (925 download)

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Book Synopsis The Genetics of Osteoporosis and Metabolic Bone Disease by : Michael J. Econs

Download or read book The Genetics of Osteoporosis and Metabolic Bone Disease written by Michael J. Econs and published by Springer Science & Business Media. This book was released on 2000-05-12 with total page 465 pages. Available in PDF, EPUB and Kindle. Book excerpt: The explosive growth in the field of molecular biology over the last two decades has started to make a great impact on clinical medicine. Genes have been cloned for diseases that were poorly understood only a decade ago. Additionally, investigators are increasingly aware that there are strong genetic components to complex disorders, such as osteoporosis, that are not classically thought of as genetic disorders. New insights into the pathogenesis of metabolic bone diseases have been obtained from investigations into the molecular biology of these diseases and new therapies will become available based on these new insights. In The Genefies of Osteoporosis and Metabolie Bane Disease, I have assembled an internationally renowned group of experts to write the various chapters. Each of the authors is an expert in his/her field who is currently performing research on the content of their chapter and have made important contributions to the understanding of the clinical fea tures and pathophysiology of metabolic bone disease and genetics. The first part of The Genefies of Osteoporosis and Metabolie Bane Disease addresses issues related to genetic contributions to the development of osteoporosis and the many factors that must be considered when searching for genesthat predispose to osteoporosis. The second sec tion addresses recent advances in the clinical and molecular biological aspects of inherited metabolic bone disorders. The last section reviews the latest techniques for finding genes that predispose to metabolic bone diseases.

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.

Atlas of Inherited Metabolic Diseases

Author : William L Nyhan
Publisher : CRC Press
ISBN 13 : 1138196606
Total Pages : 871 pages
Book Rating : 4.1/5 (381 download)

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Book Synopsis Atlas of Inherited Metabolic Diseases by : William L Nyhan

Download or read book Atlas of Inherited Metabolic Diseases written by William L Nyhan and published by CRC Press. This book was released on 2020-07-14 with total page 871 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 content is divided into sections of related disorders, including disorders of amino acid metabolism, lipid storage disorders, and mitochondrial diseases for ease of reference, with an introductory outline where appropriate summarizing the biochemical features and general management issues. Within the sections, each chapter deals with an individual disease, opening with a useful summary of major phenotypic expression including clear and helpful biochemical pathways, identifying for the reader exactly where the defect occurs. Throughout the book, plentiful photographs, often showing extremely rare disorders, are an invaluable aid to diagnosis. Key Features • Fully updated to incorporate all new developments in the field • Brand new chapters cover methylmalonic aciduria of ACSF3 deficiency, branched chain keto acid dehydrogenase deficiency, serine deficiencies, purine nucleoside phosphorylase deficiency, antiquitin deficiency, and others • Excellent and detailed clinical descriptions, with numerous valuable hints and suggestions for management • Helpful explanatory algorithms and decision trees, and high-quality illustrative material including biochemical pathways and an unrivaled photographic collection, which enhance clinical applicability The fourth edition of this highly regarded book, authored by two of the foremost authorities in pediatric metabolic medicine, continues to provide incomparable insight into the problems associated with metabolic diseases and remains invaluable to pediatricians, geneticists, and general clinicians worldwide.

Postgraduate Orthopaedics

Author : Paul A. Banaszkiewicz
Publisher : Cambridge University Press
ISBN 13 : 1107627362
Total Pages : 301 pages
Book Rating : 4.1/5 (76 download)

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Book Synopsis Postgraduate Orthopaedics by : Paul A. Banaszkiewicz

Download or read book Postgraduate Orthopaedics written by Paul A. Banaszkiewicz and published by Cambridge University Press. This book was released on 2012-08-16 with total page 301 pages. Available in PDF, EPUB and Kindle. Book excerpt: The must-have book for candidates preparing for the oral component of the FRCS (Tr and Orth).

Fusion Protein Technologies for Biopharmaceuticals

Author : Stefan R. Schmidt
Publisher : John Wiley & Sons
ISBN 13 : 1118354583
Total Pages : 995 pages
Book Rating : 4.1/5 (183 download)

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Book Synopsis Fusion Protein Technologies for Biopharmaceuticals by : Stefan R. Schmidt

Download or read book Fusion Protein Technologies for Biopharmaceuticals written by Stefan R. Schmidt and published by John Wiley & Sons. This book was released on 2013-01-28 with total page 995 pages. Available in PDF, EPUB and Kindle. Book excerpt: The state of the art in biopharmaceutical FUSION PROTEIN DESIGN Fusion proteins belong to the most lucrative biotech drugs—with Enbrel® being one of the best-selling biologics worldwide. Enbrel® represents a milestone of modern therapies just as Humulin®, the first therapeutic recombinant protein for human use, approved by the FDA in 1982 and Orthoclone® the first monoclonal antibody reaching the market in 1986. These first generation molecules were soon followed by a plethora of recombinant copies of natural human proteins, and in 1998, the first de novo designed fusion protein was launched. Fusion Protein Technologies for Biopharmaceuticals examines the state of the art in developing fusion proteins for biopharmaceuticals, shedding light on the immense potential inherent in fusion protein design and functionality. A wide pantheon of international scientists and researchers deliver a comprehensive and complete overview of therapeutic fusion proteins, combining the success stories of marketed drugs with the dynamic preclinical and clinical research into novel drugs designed for as yet unmet medical needs. The book covers the major types of fusion proteins—receptor-traps, immunotoxins, Fc-fusions and peptibodies—while also detailing the approaches for developing, delivering, and improving the stability of fusion proteins. The main body of the book contains three large sections that address issues key to this specialty: strategies for extending the plasma half life, the design of toxic proteins, and utilizing fusion proteins for ultra specific targeting. The book concludes with novel concepts in this field, including examples of highly relevant multifunctional antibodies. Detailing the innovative science, commercial realities, and brilliant potential of fusion protein therapeutics, Fusion Protein Technologies for Biopharmaceuticals is a must for pharmaceutical scientists, biochemists, medicinal chemists, molecular biologists, pharmacologists, and genetic engineers interested in determining the shape of innovation in the world of biopharmaceuticals.

Pediatric Bone

Author : Francis H. Glorieux
Publisher : Academic Press
ISBN 13 : 0123820413
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 2011-08-22 with total page 885 pages. Available in PDF, EPUB and Kindle. Book excerpt: The second edition of this classic reference deals exclusively with the biology and diseases of bone as they affect children. Rapid advances have been made in our understanding of the mechanisms and factors controlling the growth and development of bone, and these are discussed in detail in this book. Further, the various diseases of bone that are peculiar to children are highlighted and discussed in the light of our current knowledge with regard to causation, clinical signs and treatment. The book is aimed to provide those clinicians interested in children's diseases and basic scientists with a comprehensive resource covering the various aspects of bone health and disease in children. - Deals exclusively with bone development and diseases of children and each chapter is written by an expert in the field - Fully referenced providing an appendix of usually difficult to find information on the investigation of pediatric bone disease and reference values - Covers both the physiology of bone and mineral homeostasis in children and diseases in one book

Phosphatase Modulators

Author : José Luis Millán
Publisher : Humana
ISBN 13 : 9781627035613
Total Pages : 0 pages
Book Rating : 4.0/5 (356 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 2013-07-17 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.

Embryo and Fetal Pathology

Author : Enid Gilbert-Barness
Publisher : Cambridge University Press
ISBN 13 : 9781139451741
Total Pages : 706 pages
Book Rating : 4.4/5 (517 download)

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Book Synopsis Embryo and Fetal Pathology by : Enid Gilbert-Barness

Download or read book Embryo and Fetal Pathology written by Enid Gilbert-Barness and published by Cambridge University Press. This book was released on 2004-05-31 with total page 706 pages. Available in PDF, EPUB and Kindle. Book excerpt: Exhaustively illustrated in color with over 1000 photographs, figures, histopathology slides, and sonographs, this uniquely authoritative atlas provides the clinician with a visual guide to diagnosing congenital anomalies, both common and rare, in every organ system in the human fetus. It covers the full range of embryo and fetal pathology, from point of death, autopsy and ultrasound, through specific syndromes, intrauterine problems, organ and system defects to multiple births and conjoined twins. Gross pathologic findings are correlated with sonographic features in order that the reader may confirm visually the diagnosis of congenital abnormalities for all organ systems. Obstetricians, perinatologists, neonatologists, geneticists, anatomic pathologists, and all practitioners of maternal-fetal medicine will find this atlas an invaluable resource.

Pediatric Decision-Making Strategies E-Book

Author : Albert J. Pomeranz
Publisher : Elsevier Health Sciences
ISBN 13 : 0323353851
Total Pages : 371 pages
Book Rating : 4.3/5 (233 download)

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Book Synopsis Pediatric Decision-Making Strategies E-Book by : Albert J. Pomeranz

Download or read book Pediatric Decision-Making Strategies E-Book written by Albert J. Pomeranz and published by Elsevier Health Sciences. This book was released on 2015-01-08 with total page 371 pages. Available in PDF, EPUB and Kindle. Book excerpt: Designed to accompany Nelson Textbook of Pediatrics and Nelson Essentials of Pediatrics, Pediatric Decision-Making Strategies is a concise, user-friendly reference uses a unique algorithmic approach to facilitate diagnosis, testing, and basic treatment of common pediatric disorders. For any given symptom, an algorithm guides the reader through the appropriate investigative procedures and lab tests to reach definitive diagnoses. An updated format that enhances usability makes this medical reference book a must-have for medical students, residents, and practitioners treating pediatric patients. - Explore concise, focused, and updated algorithms that cover the most common pediatric problems. - Gain imperative knowledge from an expert author team that includes Dr. Robert M. Kliegman (of the Nelson line of textbooks), as well as references to related chapters in both Nelson Textbook of Pediatrics and Nelson Essentials of Pediatrics. - Quickly access important information with a new standard format and trim size for practicality and usability. - Expert Consult eBook version included with purchase. This enhanced eBook experience allows you to search all of the text, figures, algorithms, and references from the book on a variety of devices.