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Biochemical and Molecular Basis of Pediatric Disease

Biochemical and Molecular Basis of Pediatric Disease
A Book

by Edward C.C. Wong,Dennis J. Dietzen,Michael J. Bennett,Shannon Haymond

  • Publisher : Academic Press
  • Release : 2021-05-28
  • Pages : 1168
  • ISBN : 0128179635
  • Language : En, Es, Fr & De
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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 and Molecular Basis of Pediatric Disease

Biochemical and Molecular Basis of Pediatric Disease
A Book

by Dennis J. Dietzen,Michael J. Bennett,Edward C. Wong

  • Publisher : Unknown Publisher
  • Release : 2010-01-01
  • Pages : 660
  • ISBN : 9781594251009
  • Language : En, Es, Fr & De
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For many years Biochemical Basis of Pediatric Disease, 3rd Edition, edited by Drs. Soldin, Rifai, and Hicks, has served as the critical standard for pediatric clinical laboratory medicine. This new edition, retitled Biochemical and Molecular Basis of Pediatric Disease, 4th Edition, continues the previous edition's 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. Biochemical and Molecular Basis of Pediatric Disease, 4th Edition, includes new chapters in the areas of neonatology, iron metabolism, coagulation, endocrinology, and allergy. All other chapters have been extensively updated, covering nearly all aspects of pediatric disease and the many advances that have been made in recent years. Fifty-two pediatric academic faculty, all nationally known for their pediatric clinical and laboratory expertise, have contributed to this new edition, designed not only for trainees in pediatrics and laboratory medicine, but also for well-established practitioners who wish to keep up with advances in the field and those who would like to better understand the unique aspects of pediatric disease and the clinical laboratory.

Lysosomal Storage Disorders

Lysosomal Storage Disorders
A Book

by John A. Barranger,Mario Cabrera-Salazar

  • Publisher : Springer Science & Business Media
  • Release : 2007-10-16
  • Pages : 564
  • ISBN : 0387709096
  • Language : En, Es, Fr & De
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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.

Biochemical and Molecular Basis for Inherited Muscle Disease in the Horse

Biochemical and Molecular Basis for Inherited Muscle Disease in the Horse
A Book

by Tara L. Ward

  • Publisher : Unknown Publisher
  • Release : 2003
  • Pages : 242
  • ISBN : 9876543210XXX
  • Language : En, Es, Fr & De
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Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease

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

by Roger N. Rosenberg,Juan M. Pascual

  • Publisher : Elsevier
  • Release : 2014-10-28
  • Pages : 1464
  • ISBN : 0124105491
  • Language : En, Es, Fr & De
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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

Clinical Challenges in Therapeutic Drug Monitoring

Clinical Challenges in Therapeutic Drug Monitoring
Special Populations, Physiological Conditions and Pharmacogenomics

by William Clarke,Amitava Dasgupta

  • Publisher : Elsevier
  • Release : 2016-07-21
  • Pages : 376
  • ISBN : 0128020520
  • Language : En, Es, Fr & De
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Clinical Challenges in Therapeutic Drug Monitoring: Special Populations, Physiological Conditions and Pharmacogenomics focuses on critical issues in therapeutic drug monitoring including special requirements of therapeutic drug monitoring important to special populations (infants and children, pregnant women, elderly patients, and obese patients). The book also covers issues of free drug monitoring and common interferences in using immunoassays for therapeutic drug monitoring. This book is essential reading for any clinician, fellow, or trainee who wants to gain greater insight into the process of therapeutic drug monitoring for individual dosage adjustment and avoiding drug toxicity for certain drugs within a narrow therapeutic window. The book is written specifically for busy clinicians, fellows, and trainees who order therapeutic drug monitoring and need to get more familiar with testing methodologies, issues of interferences, and interpretation of results in certain patient populations. Offers busy clinicians, pathologists, and trainees a concise resource on the key aspects and critical issues in therapeutic drug monitoring Focuses on patient populations such as infants and children, pregnant women, elderly patients, and obese patients, who have special requirements in therapeutic drug monitoring Explores special topics in therapeutic drug monitoring including free drug monitoring and common immunoassay interference Explains how individual dosage adjustments can prevent drug toxicity for certain drugs within a narrow therapeutic window

Topics in Biomedical Gerontology

Topics in Biomedical Gerontology
A Book

by Pramod C. Rath,Ramesh Sharma,S. Prasad

  • Publisher : Springer
  • Release : 2016-10-20
  • Pages : 355
  • ISBN : 9811021554
  • Language : En, Es, Fr & De
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This book presents a collection of articles on various aspects of current research on aging. These include model systems, cellular, biochemical and molecular aspects of experimental aging research, as well as selected intervention studies on age-related diseases. Aging is a global challenge to human society. Children are always in a hurry to become adults, while adults produce offspring and add to the gene pool. However, after adulthood or the attainment of reproductive maturity, all physiological parameters of the living organism start to undergo the aging process. Old age sets in slowly but surely, and usually continues for a prolonged period. If vigor and vitality are the main advantages of adulthood, old age offers the rewards of experience and maturity. Biologists ask questions such as: Why do we age? How do we become old? Is it possible to slow down, postpone or even prevent aging? In turn, medical experts ask: What are the diseases associated with old age? Are there medicines that can help affected elderly patients? In fact both groups are asking themselves how can we add more health to old age. Healthy aging is the dream of every individual. But to achieve this, it is fundamental that we first understand the cellular, biochemical and molecular basis of the aging process in mammalian cells, tissues and intact living organisms, which can serve as experimental model systems in Biomedical Gerontology. Once the biology of aging is understood at the genetic and molecular levels, interventional approaches to aging and its associated diseases may be easier to plan and implement at the preclinical level.

Tietz Fundamentals of Clinical Chemistry and Molecular Diagnostics - E-Book

Tietz Fundamentals of Clinical Chemistry and Molecular Diagnostics - E-Book
A Book

by Nader Rifai

  • Publisher : Elsevier Health Sciences
  • Release : 2018-10-31
  • Pages : 1088
  • ISBN : 032354973X
  • Language : En, Es, Fr & De
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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.

Tietz Textbook of Clinical Chemistry and Molecular Diagnostics - E-Book

Tietz Textbook of Clinical Chemistry and Molecular Diagnostics - E-Book
A Book

by Nader Rifai

  • Publisher : Elsevier Health Sciences
  • Release : 2017-01-16
  • Pages : 1888
  • ISBN : 0323548482
  • Language : En, Es, Fr & De
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The Tietz Textbook of Clinical Chemistry and Molecular Diagnostics, 6th Edition provides the most current and authoritative guidance on selecting, performing, and evaluating the results of new and established laboratory tests. This classic clinical chemistry reference offers encyclopedic coverage detailing everything you need to know, including: analytical criteria for the medical usefulness of laboratory tests, variables that affect tests and results, laboratory medicine, applications of statistical methods, and most importantly clinical utility and interpretation of laboratory tests. It is THE definitive reference in clinical chemistry and molecular diagnostics, now fully searchable and with quarterly content updates, podcasts, clinical cases, animations, and extended content online through Expert Consult. Analytical criteria focus on the medical usefulness of laboratory procedures. Reference ranges show new approaches for establishing these ranges — and provide the latest information on this topic. Lab management and costs gives students and chemists the practical information they need to assess costs, allowing them to do their job more efficiently and effectively. Statistical methods coverage provides you with information critical to the practice of clinical chemistry. Internationally recognized chapter authors are considered among the best in their field. Two-color design highlights important features, illustrations, and content to help you find information easier and faster. NEW! Internationally recognized chapter authors are considered among the best in their field. NEW! Expert Consult features fully searchable text, quarterly content updates, clinical case studies, animations, podcasts, atlases, biochemical calculations, multiple-choice questions, links to Medline, an image collection, and audio interviews. You will now enjoy an online version making utility of this book even greater. UPDATED! Expanded Molecular Diagnostics section with 12 chapters that focus on emerging issues and techniques in the rapidly evolving and important field of molecular diagnostics and genetics ensures this text is on the cutting edge and of the most value. NEW! Comprehensive list of Reference Intervals for children and adults with graphic displays developed using contemporary instrumentation. NEW! Standard and international units of measure make this text appropriate for any user — anywhere in the world. NEW! 22 new chapters that focus on applications of mass spectrometry, hematology, transfusion medicine, microbiology, biobanking, biomarker utility in the pharmaceutical industry and more! NEW! Expert senior editors, Nader Rifai, Carl Wittwer and Rita Horvath, bring fresh perspectives and help ensure the most current information is presented. UPDATED! Thoroughly revised and peer-reviewed chapters provide you with the most current information possible.

Biochemical Basis of Pediatric Disease

Biochemical Basis of Pediatric Disease
A Book

by Steven J. Soldin,Nader Rifai,Jocelyn M. Hicks

  • Publisher : American Association for Clinical Chemistry, Incorporated
  • Release : 1995
  • Pages : 684
  • ISBN : 9876543210XXX
  • Language : En, Es, Fr & De
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Sperling Pediatric Endocrinology E-Book

Sperling Pediatric Endocrinology E-Book
A Book

by Mark A. Sperling

  • Publisher : Elsevier Health Sciences
  • Release : 2020-07-22
  • Pages : 1072
  • ISBN : 0323625215
  • Language : En, Es, Fr & De
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An ideal resource for both pediatricians and endocrinologists, Sperling’s Pediatric Endocrinology, 5th Edition, brings you fully up to date with accelerating research; new discoveries in metabolic, biochemical and molecular mechanisms; and the resulting advances in today’s clinical care. The editorial team of world-renowned pediatric endocrinologists led by Dr. Mark Sperling, as well as expert contributing authors, cover comprehensive and current aspects of both basic science and clinical practice. Whether you’re preparing for certification or have extensive clinical experience, this detailed, authoritative reference helps you increase your knowledge and determine the best possible course for every patient. Delivers trusted guidance in every area of the field: including Endocrine Disorders of the Newborn, Endocrine Disorders of Childhood and Adolescence, and Laboratory Tests. Features new topics such as transgender issues in children and adolescents and endocrinology of pregnancy, the fetus and the placenta. Offers expert coverage of hot topics such as disorders of sexual development, molecular basis of endocrine disorders, hypoglycemia in newborns and infants; neonatal and other monogenic forms of diabetes; Type I and Type II diabetes and their treatment with new insulins together with the progress in an artificial pancreas and new medications for T2DM in adolescents; the obesity epidemic and role of bariatric surgery; and advances toward personalized medicine. Includes easy-to-follow algorithms and numerous quick-reference tables and boxes in every clinical chapter, plus interactive questions online for self-assessment. Offers state-of-the-art information and fresh perspectives from new and award-winning authors in such areas as disorders of growth, multiple endocrine tumors, and puberty and its disorders in girls and boys.

Molecular Basis of Neurological Disorders and Their Treatment

Molecular Basis of Neurological Disorders and Their Treatment
A Book

by A. Albano,E. Ferrari,S. Papa

  • Publisher : Springer
  • Release : 1991
  • Pages : 337
  • ISBN : 9876543210XXX
  • Language : En, Es, Fr & De
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cytochemical techniques (ICC) which provide a useful adjunct to investigations by immunoblotting. A particular advantage of a cytochemical approach to the investiga tion of mitochondrial disorders is that it allows the mosaic distribution of certain of these defects to be detected, whereas the tissue homogeniza tion involved in conventional enzyme assays or immunoblotting precludes this. A further advantage of MEA or ICC is that only small amounts of tissue are needed, which is important since many of the affected patients are infants or small children. The main aim of this communica tion is to outline ways in which these techniques can be used in the diagnosis and further investigation of mitochondrial disorders. Reference will be made not only to those situations in which MEA and ICC offer advantages over standard enzyme asays and immunoblotting but also to contexts in which the reverse applies. 4. 2 MATERIALS AND METHODS Muscle biopsies for cytochemical investigation were snap-frozen using isopentane cooled to - 150°C in liquid nitrogen. Samples were stored in heat-sealed polythene packets in the vapour phase of liquid nitrogen containers. 4. 2. 1 Microphotometric enzyme assays Frozen sections 8 Jlm thick were cut using a Reichert-J ung Frigocut cryostat microtome equipped with motor-driven cutting action to maintain maximal reproducibility of section thickness. Sections were picked up on microscope slides and air-dried for 15 min at room temperature.

Cognitive and Behavioral Abnormalities of Pediatric Diseases

Cognitive and Behavioral Abnormalities of Pediatric Diseases
A Book

by Ruth D. Nass,Yitzchak Frank

  • Publisher : Oxford University Press, USA
  • Release : 2010
  • Pages : 673
  • ISBN : 0195342682
  • Language : En, Es, Fr & De
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This book provides a detailed account of intellectual, other neuropsychological and behavioral manifestations of general pediatric diseases. The conditions discussed include the whole range of pediatric diseases - genetic syndromes, other congenital conditions, metabolic, endocrine, gastrointestinal, infectious, immunologic, toxic, trauma, and neoplastic, as well as sensory disabilities including deafness and blindness. Although the book is not intended to discuss cognitive and behavioral manifestations of conditions usually considered to be primary neurological disease, some of those, including cerebral palsy, muscular dystrophy, myotonic dystrophy and epilepsy, are included. Where possible, a "translational" approach is used, linking the behavioral and cognitive manifestations of these conditions, to the underlying structural, chemical or genetic abnormalities and their effect on the brain, and, in turn, on behavior and cognition. At the same time, included are significant psychosocial factors. Together, those factors have a major effect on patients' performance, including school performance, and on their families. This book is unique in its extensive coverage of the major pediatric conditions and of the detailed neurological, neuropsychological and behavioral aspects of each condition.

The Metabolic & Molecular Bases of Inherited Disease

The Metabolic & Molecular Bases of Inherited Disease
A Book

by Charles R. Scriver

  • Publisher : New York ; Montreal : McGraw-Hill
  • Release : 2001
  • Pages : 6338
  • ISBN : 9780071363228
  • Language : En, Es, Fr & De
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Presents clinical, biochemical, and genetic information concerning those metabolic anomalies grouped under inborn errors of metabolism.

Leukodystrophies

Leukodystrophies
A Book

by Gerald V. Raymond,Florian S. Eichler,Ali Fatemi,Sakkubai Naidu

  • Publisher : Mac Keith Press
  • Release : 2011-04-18
  • Pages : 252
  • ISBN : 9781907655098
  • Language : En, Es, Fr & De
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The leukodystrophies are serious, progressive disorders of demyelination, manifesting themselves in infancy or early childhood and progressing rapidly, leading to loss of sight, hearing, speech, and ambulation, and early death. A comprehensive guide to the genetics and pathogenesis of these disorders, as well as their clinical features, diagnosis and therapy, is needed, particularly as their early identification can allow more effective treatment. This book is the only up-to-date, comprehensive text on leukodystrophies. Its purpose is to summarize for the reader all aspects of the inherited disorders of myelin in children and adults. After a comprehensive overview of myelin and the role of oligodendrocytes, astrocytes and microglia in white matter disease, chapters are then devoted to individual disorders, covering their biochemical and molecular basis, genetics, pathophysiology, clinical features, diagnosis, treatment and screening. The final chapters address therapeutic approaches in leukodystrophies and present a clinical approach to diagnosing leukoencephalopathies in children and adults. The book was conceived by Hugo Moser, whose research led to major developments in the treatment of adrenoleukodystrophy, and is dedicated to him by his colleagues. Readership: Paediatric and adult neurologists, paediatricians, geneticists.

Public Health Service grants and awards

Public Health Service grants and awards
A Book

by Anonim

  • Publisher : Unknown Publisher
  • Release : 1971
  • Pages : 329
  • ISBN : 9876543210XXX
  • Language : En, Es, Fr & De
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Sperling Pediatric Endocrinology

Sperling Pediatric Endocrinology
A Book

by Mark A. Sperling

  • Publisher : Elsevier
  • Release : 2020-09
  • Pages : 951
  • ISBN : 9780323625203
  • Language : En, Es, Fr & De
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An ideal resource for both pediatricians and endocrinologists, Sperling's Pediatric Endocrinology, 5th Edition, brings you fully up to date with accelerating research; new discoveries in metabolic, biochemical and molecular mechanisms; and the resulting advances in today's clinical care. The editorial team of world-renowned pediatric endocrinologists led by Dr. Mark Sperling, as well as expert contributing authors, cover comprehensive and current aspects of both basic science and clinical practice. Whether you're preparing for certification or have extensive clinical experience, this detailed, authoritative reference helps you increase your knowledge and determine the best possible course for every patient. Delivers trusted guidance in every area of the field: including Endocrine Disorders of the Newborn, Endocrine Disorders of Childhood and Adolescence, and Laboratory Tests. Features new topics such as transgender issues in children and adolescents and endocrinology of pregnancy, the fetus and the placenta. Offers expert coverage of hot topics such as disorders of sexual development, molecular basis of endocrine disorders, hypoglycemia in newborns and infants; neonatal and other monogenic forms of diabetes; Type I and Type II diabetes and their treatment with new insulins together with the progress in an artificial pancreas and new medications for T2DM in adolescents; the obesity epidemic and role of bariatric surgery; and advances toward personalized medicine. Includes easy-to-follow algorithms and numerous quick-reference tables and boxes in every clinical chapter, plus interactive questions online for self-assessment. Offers state-of-the-art information and fresh perspectives from new and award-winning authors in such areas as disorders of growth, multiple endocrine tumors, and puberty and its disorders in girls and boys. Enhanced eBook version included with purchase. Your enhanced eBook allows you to access all of the text, figures, and references from the book on a variety of devices.

Secretary's Committee on Mental Retardation

Secretary's Committee on Mental Retardation
Mental Retardation Grants

by United States. Dept. of Health, Education, and Welfare

  • Publisher : Unknown Publisher
  • Release : 1966
  • Pages : 329
  • ISBN : 9876543210XXX
  • Language : En, Es, Fr & De
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Research Awards Index

Research Awards Index
A Book

by Anonim

  • Publisher : Unknown Publisher
  • Release : 1987
  • Pages : 329
  • ISBN : 9876543210XXX
  • Language : En, Es, Fr & De
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Annals of Clinical Biochemistry

Annals of Clinical Biochemistry
A Book

by Anonim

  • Publisher : Unknown Publisher
  • Release : 2002
  • Pages : 329
  • ISBN : 9876543210XXX
  • Language : En, Es, Fr & De
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