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Biochemical And Molecular Basis Of Pediatric Disease

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Biochemical and Molecular Basis of Pediatric Disease

Biochemical and Molecular Basis of Pediatric Disease Book
Author : Edward C.C. Wong,Dennis J. Dietzen,Michael J. Bennett
Publisher : Academic Press
Release : 2020-12-01
ISBN : 0128179635
Language : En, Es, Fr & De

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Book Description :

Biochemical and Molecular Basis of Pediatric Disease, Fifth Edition has been a well-respected reference in the field for decades. This revision continues the strong focus on understanding the pathogenesis of pediatric disease, emphasizing not only the important role of the clinical laboratory in defining parameters that change with the disease process, but also the molecular basis of many pediatric diseases. Provides a fully-updated resource with more color illustrations Focuses on the biochemical and molecular basis of disease as well as the analytical techniques Defines important differences in the pathophysiology of diseases, comparing childhood with adult

Biochemical Basis of Pediatric Disease

Biochemical Basis of Pediatric Disease Book
Author : Steven J. Soldin,Nader Rifai,Jocelyn M. Hicks
Publisher : American Association for Clinical Chemistry, Incorporated
Release : 1995
ISBN :
Language : En, Es, Fr & De

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Book Description :

Tietz Fundamentals of Clinical Chemistry and Molecular Diagnostics E Book

Tietz Fundamentals of Clinical Chemistry and Molecular Diagnostics   E Book Book
Author : Nader Rifai
Publisher : Elsevier Health Sciences
Release : 2018-10-31
ISBN : 032354973X
Language : En, Es, Fr & De

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Book Description :

Get the foundational knowledge you need to successfully work in a real-world, clinical lab with Tietz Fundamentals of Clinical Chemistry and Molecular Diagnostics, 8th Edition. From highly respected clinical chemistry expert Nader Rifai, this condensed, easier-to-understand version of the acclaimed Tietz Textbook of Clinical Chemistry and Molecular Diagnostics uses a laboratory perspective to guide you through selecting and performing diagnostic lab tests and accurately evaluating the results. Coverage includes laboratory principles, analytical techniques, instrumentation, analytes, pathophysiology, and more. This eighth edition features new clinical cases from The Coakley Collection, new questions from The Deacon’s Challenge of Biochemical Calculations Collection, plus new content throughout the text to ensure you stay ahead of all the latest techniques, instrumentation, and technologies. Condensed version of the clinical chemistry "bible" offers the same authoritative and well-presented content in a much more focused and streamlined manner. Coverage of analytical techniques and instrumentation includes optical techniques, electrochemistry, electrophoresis, chromatography, mass spectrometry, enzymology, immunochemical techniques, microchips, automation, and point of care testing. Updated chapters on molecular diagnostics cover the principles of molecular biology, nucleic acid techniques and applications, and genomes and nucleic acid alterations, reflecting the changes in this rapidly evolving field. Learning objectives, key words, and review questions are included in each chapter to support learning. More than 500 illustrations plus easy-to-read tables help readers better understand and remember key concepts. NEW! Clinical Cases from The Coakley Collection use real-life scenarios to demonstrate how concepts from the text will come in to play in real life practice. NEW! Questions from The Deacon’s Challenge of Biochemical Calculations Collection help reinforce concepts and help readers’ critical thinking skills. NEW! Updated content throughout the text keeps readers up to date on the latest techniques, instrumentation, and technologies. NEW! New lead author Nader Rifai lends his expertise as the Director of Clinical Chemistry at Children’s Hospital in Boston, the Editor-in-Chief of the journal Clinical Chemistry, and a Professor of Pathology at Harvard University.

Rosenberg s Molecular and Genetic Basis of Neurological and Psychiatric Disease

Rosenberg s Molecular and Genetic Basis of Neurological and Psychiatric Disease Book
Author : Roger N. Rosenberg,Juan M. Pascual
Publisher : Elsevier
Release : 2014-10-28
ISBN : 0124105491
Language : En, Es, Fr & De

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Book Description :

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

Precision Molecular Pathology of Neoplastic Pediatric Diseases

Precision Molecular Pathology of Neoplastic Pediatric Diseases Book
Author : Larissa V. Furtado,Aliya N. Husain
Publisher : Springer
Release : 2018-08-01
ISBN : 3319896261
Language : En, Es, Fr & De

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Book Description :

This book provides a comprehensive, state-of-the art review of pediatric oncology. The text covers relevant concepts in molecular biology and addresses technical principles, applications, challenges, and integration of current and emerging genomic and molecular methods in the diagnosis and personalized management of childhood cancers. The text also discusses a wide array of pediatric neoplasms in the context of molecular pathology in a concise and understandable manner, with focus on their molecular pathogenesis, clinicopathological features, classification, molecular diagnosis, and approaches to personalized care. Written by experts in the field, Precision Molecular Pathology of Neoplastic Pediatric Diseases serves as a valuable resource for pathologists, pediatric oncologists, trainees and researchers with an interest in pediatric and molecular pathology.

Molecular Basis of Lysosomal Storage Disorders

Molecular Basis of Lysosomal Storage Disorders Book
Author : John Barranger
Publisher : Elsevier
Release : 2012-12-02
ISBN : 0323147283
Language : En, Es, Fr & De

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Book Description :

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.

Molecular Basis of Neuropsychiatric Disorders from Bench to Bedside

Molecular Basis of Neuropsychiatric Disorders  from Bench to Bedside Book
Author : Shafiqur Rahman
Publisher : Academic Press
Release : 2019-10-05
ISBN : 0128188561
Language : En, Es, Fr & De

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Book Description :

Progress in Molecular Biology and Translational Science, Volume 167, provides the most topical, informative and exciting monographs available on a wide variety of research topics related to Models and Biological Targets in Drug Discovery for Attention Deficit Hyperactivity Disorder, Novel Targets for Parkinson-Depression Co-morbidity. Utility of Cannabidiol (CBD) in Neuropsychiatric Disorders: A Short Review of the Recent Pre-clinical and Clinical Findings, The Many Sides of Microglia in Alcohol Use Disorders, Stress, Anxiety, Molecular Targets and More, Calcineurin Signaling in Psychiatric Disorders, Emerging Evidence for the Role of Pituitary Adenylate Cyclase- Activating Peptide (PACAP) in Neuropsychiatric Disorders, and more. Includes comprehensive coverage of molecular biology Presents ample use of tables, diagrams, schemata and color figures to enhance the reader's ability to rapidly grasp the information provided Contains contributions from renowned experts in the field

Comprehensive Pediatric Nephrology E Book

Comprehensive Pediatric Nephrology E Book Book
Author : Denis F. Geary,Franz Schaefer
Publisher : Elsevier Health Sciences
Release : 2008-05-16
ISBN : 0323070965
Language : En, Es, Fr & De

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Book Description :

This new clinical resource brings you a state-of-the-art comprehensive review on every clinical condition encountered in pediatric nephrology in one concise, clinically focused text. International experts provide you with the latest on epidemiology, diagnosis, investigations, management, and prognosis for a full range of pediatric kidney disorders. A full-color, highly visual, meticulously crafted format, makes this material remarkably easy for you to access and apply. Comprehensive Pediatric Nephrology also serves as an ideal resource for board review study for the ABP subspecialty boards in pediatric nephrology. Just the right amount of "need-to-know" basic science coupled with practical clinical guidance for every disorder helps you make efficient, informed decisions. The book provides a much needed update on the genetic origins of pediatric kidney disorders. Chapters about glomerulonephritis, nephrotic syndrome, and tubular disorders provide an orientation in the pathophysiology, differential diagnosis, and treatment of these heterogeneous disease entities. Disease specific chapters include diagnostic work-up, laboratory evaluation, and management of disorders and complications, making this necessary information readily accessible. The prevention and management of pediatric chronic renal failure and its complications are comprehensively covered in many detailed chapters. Four chapters devoted to childhood hypertension offer you insights into an increasingly prevalent condition among pediatric patients so you can treat them more effectively. A chapter on the role of the interventional radiologist in pediatric nephrology keeps you apprised of the latest advances in a key area in the field. The function of complementary and alternative medicine in patients with renal disease is reviewed for the first time in a standard pediatric nephrology textbook. A consistent organization throughout and a full-color layout lets you find diagnostic guidance quickly.

Tietz Textbook of Clinical Chemistry and Molecular Diagnostics E Book

Tietz Textbook of Clinical Chemistry and Molecular Diagnostics   E Book Book
Author : Carl A. Burtis,Edward R. Ashwood,David E. Bruns
Publisher : Elsevier Health Sciences
Release : 2012-10-14
ISBN : 1455759422
Language : En, Es, Fr & De

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Book Description :

As the definitive reference for clinical chemistry, Tietz Textbook of Clinical Chemistry and Molecular Diagnostics, 5th Edition offers the most current and authoritative guidance on selecting, performing, and evaluating results of new and established laboratory tests. Up-to-date encyclopedic coverage details everything you need to know, including: analytical criteria for the medical usefulness of laboratory procedures; new approaches for establishing reference ranges; variables that affect tests and results; the impact of modern analytical tools on lab management and costs; and applications of statistical methods. In addition to updated content throughout, this two-color edition also features a new chapter on hemostasis and the latest advances in molecular diagnostics. Section on Molecular Diagnostics and Genetics contains nine expanded chapters that focus on emerging issues and techniques, written by experts in field, including Y.M. Dennis Lo, Rossa W.K. Chiu, Carl Wittwer, Noriko Kusukawa, Cindy Vnencak-Jones, Thomas Williams, Victor Weedn, Malek Kamoun, Howard Baum, Angela Caliendo, Aaron Bossler, Gwendolyn McMillin, and Kojo S.J. Elenitoba-Johnson. Highly-respected author team includes three editors who are well known in the clinical chemistry world. Reference values in the appendix give you one location for comparing and evaluating test results. NEW! Two-color design throughout highlights important features, illustrations, and content for a quick reference. NEW! Chapter on hemostasis provides you with all the information you need to accurately conduct this type of clinical testing. NEW! Six associate editors, Ann Gronowski, W. Greg Miller, Michael Oellerich, Francois Rousseau, Mitchell Scott, and Karl Voelkerding, lend even more expertise and insight to the reference. NEW! Reorganized chapters ensure that only the most current information is included.

Oxidative Phosphorylation in Health and Disease

Oxidative Phosphorylation in Health and Disease Book
Author : Jan A.M. Smeitink
Publisher : Springer Science & Business Media
Release : 2004-11-02
ISBN : 9780306482328
Language : En, Es, Fr & De

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Book Description :

Mitochondrial diseases are often hard to diagnose. From the time they were first researched without animal models, patients of mitochondrial diseases were of equal interest to both clinical and basic scientists. With the new research done, this book includes updates on the normal structure, function, and molecular biology of the mitochondrial respiratory chain, information on traditional diagnostical methodologies, and an overview of the diagnostic promise of new technologies. The hypermetabolism of Luft disease, although only seen twice, is also studied. There are critical reviews of symptoms and signs associated with syndromes, as well as updates on the genetic defects of either the mitochondrial or the nuclear genome responsible for many disorders.

Robbins Cotran Pathologic Basis of Disease E Book

Robbins   Cotran Pathologic Basis of Disease E Book Book
Author : Vinay Kumar,Abul K. Abbas,Nelson Fausto,Jon C. Aster
Publisher : Elsevier Health Sciences
Release : 2009-06-10
ISBN : 1437720153
Language : En, Es, Fr & De

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Book Description :

One of the best-selling medical textbooks of all time, Robbins and Cotran Pathologic Basis of Disease is the one book that nearly all medical students purchase, and is also widely used by physicians worldwide. A "who's who" of pathology experts delivers the most dependable, current, and complete coverage of today's essential pathology knowledge. At the same time, masterful editing and a practical organization make mastering every concept remarkably easy. The result remains the ideal source for an optimal understanding of pathology. Offers the most authoritative and comprehensive, yet readable coverage available in any pathology textbook, making it ideal for USMLE or specialty board preparation as well as for course work. Delivers a state-of-the-art understanding of the pathologic basis of disease through completely updated coverage, including the latest cellular and molecular biology. Demonstrates every concept visually with over 1,600 full-color photomicrographs and conceptual diagrams - many revised for even better quality. Facilitates learning with an outstanding full-color, highly user-friendly design.

Robbins Cotran Pathologic Basis of Disease E Book

Robbins   Cotran Pathologic Basis of Disease E Book Book
Author : Vinay Kumar,Abul K. Abbas,Nelson Fausto,Jon C. Aster
Publisher : Elsevier Health Sciences
Release : 2009-06-10
ISBN : 1437721826
Language : En, Es, Fr & De

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Book Description :

One of the best-selling medical textbooks of all time, Robbins and Cotran Pathologic Basis of Disease is the one book you likely purchased as a medical student that still provides answers now that you're in practice. The new PROFESSIONAL EDITION is the same "who's who" of pathology experts that delivers the most dependable, current, and complete coverage of today's essential pathology knowledge, now enhanced with PERKS DESIGNED SPECIALLY FOR YOU AS A PRACTITIONER. Masterful editing and a practical organization make learning or reinforcing every concept remarkably easy. The result remains the ideal source for an optimal understanding of pathology at its core. Offers the most authoritative and comprehensive, yet readable coverage available in any pathology textbook, making it ideal for USMLE or specialty board preparation as well as for course work

The Molecular Basis for the Link Between Maternal Health and the Origin of Fetal Congenital Abnormalities

The Molecular Basis for the Link Between Maternal Health and the Origin of Fetal Congenital Abnormalities Book
Author : Bashir M. Matata,Maqsood M. Elahi
Publisher : Bentham Science Publishers
Release : 2011
ISBN : 1608052869
Language : En, Es, Fr & De

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Book Description :

This e-book discusses the molecular relationship between biological systems and risk factors for in-utero oxidative insults, maternal health and the impact on fetus at different critical developmental time windows (prenatal or even postnatal). Plausibly, prenatal and early postnatal periods are the most critical "windows" to oxidative stress programming insults. Pro-oxidative stress is a common feature of many conditions associated with adverse fetal growth and/or preterm birth, such as pre-eclampsia, diabetes, smoking, malnutrition or excessive nutrition, infection or inflammation. Oxidative.

The Metabolic Molecular Bases of Inherited Disease

The Metabolic   Molecular Bases of Inherited Disease Book
Author : Charles R. Scriver
Publisher : New York ; Montreal : McGraw-Hill
Release : 2001
ISBN : 9780071363228
Language : En, Es, Fr & De

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Book Description :

Presents clinical, biochemical, and genetic information concerning those metabolic anomalies grouped under inborn errors of metabolism.

Vitamin D An Issue of Rheumatic Disease Clinics E Book

Vitamin D  An Issue of Rheumatic Disease Clinics   E Book Book
Author : Sol Epstein
Publisher : Elsevier Health Sciences
Release : 2012-02-28
ISBN : 1455743135
Language : En, Es, Fr & De

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Book Description :

This issue features internationally renowned experts who have provided their expertise on a variety of topics related to the importance of vitamin D. It was not until feed back loops were identified between Vitamin D production and parathyroid hormone, phosphate that it earned its place as a true endocrine hormone. Current social and economic conditions have brought it back into the limelight with outbreaks of rickets and osteomalacia even in developed countries. However its complex regulation, together with the identification and characterization of the vitamin D receptor and its role in influencing multiple genetic pathways and function has heralded a new era highlighting its importance in health and disease. This includes its role in auto immune diseases such as multiple sclerosis, diabetes mellitus, cancer especially breast and prostate, skin, neurological and cognitive disorders and infectious diseases such as tuberculosis. We now know that adequate levels of vitamin D it is important in preventing falls and fracture. The need for supplementation and the amount recommended has also changed considerably from what we previously considered sufficient. The ongoing development of selective active analogs of vitamin D targeted to specific organs and function leads to the exciting possibility of improving outcomes of diseases associated with vitamin D regulation.

The Molecular and Genetic Basis of Neurologic and Psychiatric Disease

The Molecular and Genetic Basis of Neurologic and Psychiatric Disease Book
Author : Roger N. Rosenberg
Publisher : Lippincott Williams & Wilkins
Release : 2008
ISBN : 9780781769563
Language : En, Es, Fr & De

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Book Description :

Completely updated for its Fourth Edition, this book is the most comprehensive, current review of the molecular and genetic basis of neurologic and psychiatric diseases. More than 120 leading experts provide a fresh, new assessment of recent molecular, genetic, and genomic advances, offer new insights into disease pathogenesis, describe the newest available therapies, and explore promising areas of therapeutic development. This edition features an updated section on psychiatric disease and expanded, updated chapters on human genomics, gene therapy, and ethical issues. Six new chapters cover congenital myasthenic syndromes, hereditary spastic paraplegia, ion channel disorders, the phakomatoses, beta-galactosidase deficiency, and prion diseases. A Neurologic Gene Map describes the chromosome locus of all the genetic diseases and their gene product where known. The fully searchable online text will be available on a companion Website. (www.rosenbergneuroandpsychdisease.com)

Molecular Basis of Pulmonary Disease

Molecular Basis of Pulmonary Disease Book
Author : Francis X. McCormack,Ralph J. Panos,Bruce C. Trapnell
Publisher : Springer Science & Business Media
Release : 2010-03-10
ISBN : 9781597453844
Language : En, Es, Fr & De

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Book Description :

The study of rare lung disorders enhances our understanding of common pulmonary diseases such as fibrosis and emphysema. Molecular Basis of Lung Disease: Insights from Rare Disorders brings together a panel of distinguished clinicians and molecular scientists who are experts in a range of rare lung diseases and their underlying molecular defects. Each chapter focuses on the pathogenic mechanisms and therapeutic targets suggested by basic research and follows an easy to read format: brief introduction followed by discussion of epidemiology, genetic basis and molecular pathogenesis, animal models, clinical presentation, diagnostic approaches, conventional management and treatment strategies, as well as future therapeutic targets and directions. Disorders ranging from the Marfan and Goodpasture’s syndromes to Sarcoidosis and alpha one titrypsin deficiency are treated in detail. Written for pulmonary clinicians and scientists alike, Molecular Basis of Lung Disease: Insights from Rare Disorders is a comprehensive and invaluable nesource that sheds new light on the molecular mechanisms influencing the clinical presentation and treatment strategies for these debilitating disorders.

Molecular Basis of Drug Design and Resistance

Molecular Basis of Drug Design and Resistance Book
Author : G. H. Coombs,Leslie H. Chappell,S. L. Croft
Publisher : Cambridge University Press
Release : 1997
ISBN : 9780521626699
Language : En, Es, Fr & De

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Book Description :

This volume is the specially commissioned supplement to the journal Parasitology, volume 114.

Fetal and Neonatal Pathology

Fetal and Neonatal Pathology Book
Author : Jean W. Keeling
Publisher : Springer Science & Business Media
Release : 2013-03-09
ISBN : 1447136829
Language : En, Es, Fr & De

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Book Description :

Written in a concise and easy-to-read style this third edition of the classic reference in the field of fetal and neonatal pathology provides the essential clinical and pathophysiological information and discusses the pathogenesis of abnormalities as a basis for appropriate methods of investigation. Fully revised and up-dated, the book retains the overall format of previous editions, presenting the same practical approach to the examination of both fetuses and perinatal deaths. Part 1 deals with the examination of the products of conception after the termination of pregnancy for fetal anomalies. Part 2 is organised by system, describing and illustrating those pathological problems which are likely to be encountered in the fetus and neonate.