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The Metabolic And Molecular Bases Of Inherited Disease Chaps 1 76 Pages 1 1664
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Book Synopsis The Online Metabolic & Molecular Bases of Inherited Disease by :
Download or read book The Online Metabolic & Molecular Bases of Inherited Disease written by and published by . This book was released on 2001 with total page 6478 pages. Available in PDF, EPUB and Kindle. Book excerpt: Presents clinical, biochemical, and genetic information concerning those metabolic anomalies grouped under inborn errors of metabolism.
Book Synopsis Basic Concepts of Molecular Pathology by : Philip T. Cagle
Download or read book Basic Concepts of Molecular Pathology written by Philip T. Cagle and published by Springer Science & Business Media. This book was released on 2009-06-10 with total page 195 pages. Available in PDF, EPUB and Kindle. Book excerpt: Over the past two decades there has been an explosion in knowledge about the molecular pathology of human diseases which accelerated with the sequencing of the human genome in 2003. Molecular diagnostics and molecular targeted therapy have contributed to the current concept of personalized patient care that is now routine in many medical centers. As a result, general and subspecialty pathologists, clinical practitioners of all types and radiologists must now have an understanding of the basic concepts of molecular pathology and their role in new diagnostic and therapeutic applications to patient care. The Molecular Pathology Library series was created to bridge the gap between traditional basic science textbooks in molecular biology and traditional medical textbooks for organ-specific diseases. Basic Concepts of Molecular Pathology is designed as a stand-alone book to provide the pathologist, clinician or radiologist with a concise review of the essential terminology, concepts and tools of molecular biology that are applied to the understanding, diagnosis and treatment of human diseases in the age of personalized medicine. Those medical practitioners, residents, fellows and students who need to refer to the terminology and concepts of molecular pathology in their patient care will find the Basic Concepts of Molecular Pathology to be a succinct, portable, user-friendly aid in their practice and studies. The service-based physician will find this handy reference to be valuable at the laboratory benchside, at the patient bedside, at multidisciplinary patient care conferences or as a review for examinations.
Book Synopsis Toxicological Profile for Sulfur Trioxide and Sulfuric Acid by :
Download or read book Toxicological Profile for Sulfur Trioxide and Sulfuric Acid written by and published by . This book was released on 1998 with total page 220 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Book Synopsis Nutrition Management of Inherited Metabolic Diseases by : Laurie E. Bernstein
Download or read book Nutrition Management of Inherited Metabolic Diseases written by Laurie E. Bernstein and published by Springer. This book was released on 2015-06-03 with total page 363 pages. Available in PDF, EPUB and Kindle. Book excerpt: This up-to-date reference on the nutrition management of inherited metabolic diseases (IMD) covers a wide range of these disorders, including phenylketonuria and other aminoacidopathies, organic acidemias, urea cycle disorders, fatty acid oxidation disorders, galactosemia and glycogen storage diseases. Guidance is also provided on laboratory evaluations and biochemical testing and monitoring. Topics such as newborn screening for IMD, as well as nutrition management during pregnancy and transplantation, are addressed. The book is based on 7 years of lectures delivered through Metabolic University – an interactive, didactic program designed to provide training to dietitians who work with individuals with IMD. This book provides the basic information required to manage nutrition care and is a resource for clinicians new to this complex field.
Book Synopsis Organic Acids in Man by : R. Chalmers
Download or read book Organic Acids in Man written by R. Chalmers and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 531 pages. Available in PDF, EPUB and Kindle. Book excerpt: The writing of this book was prompted by the need for a comprehensive of current data on organic acids suitable for both newcomers and collection established researchers in this field. The only previous text of the kind was the excellent review by Nordmann and Nordmann (1961), and at that time the main method of analysis was paper chromatography with liquid chromatography being used in a limited way. Only three diseases in which organic acids accumulate were known (primary hyperoxaluria, phenylketonuria and alcaptonuria). Since then, with the development of gas chromatography and mass spectrometry, and the further development ofliquid chromatography, knowledge concerning the nature of the organic acids in physiological fluids has been greatly extended. At the same time, the number of organic acidurias has increased dramatically, there being now some 40-50 known diseases of this type. During the past 15 years or so, there have been several reviews, dealing with either specific diseases or groups of diseases (Gompertz, 1972, 1974; Tanaka, 1975), or presenting the proceedings of symposia (Stern and Toothill, 1972) or workshops (Marner et al. , 1974). This present text deals comprehensively and in detail with the organic acids in human physiological fluids in health and in disease states, and is particularly concerned with the methods necessary for their separation, determination and indentification.
Book Synopsis Immunisation against infectious diseases by : David Salisbury
Download or read book Immunisation against infectious diseases written by David Salisbury and published by The Stationery Office. This book was released on 2006-12-11 with total page 486 pages. Available in PDF, EPUB and Kindle. Book excerpt: This is the third edition of this publication which contains the latest information on vaccines and vaccination procedures for all the vaccine preventable infectious diseases that may occur in the UK or in travellers going outside of the UK, particularly those immunisations that comprise the routine immunisation programme for all children from birth to adolescence. It is divided into two sections: the first section covers principles, practices and procedures, including issues of consent, contraindications, storage, distribution and disposal of vaccines, surveillance and monitoring, and the Vaccine Damage Payment Scheme; the second section covers the range of different diseases and vaccines.
Author :Agency for Healthcare Research and Quality/AHRQ Publisher :Government Printing Office ISBN 13 :1587634333 Total Pages :385 pages Book Rating :4.5/5 (876 download)
Book Synopsis Registries for Evaluating Patient Outcomes by : Agency for Healthcare Research and Quality/AHRQ
Download or read book Registries for Evaluating Patient Outcomes written by Agency for Healthcare Research and Quality/AHRQ and published by Government Printing Office. This book was released on 2014-04-01 with total page 385 pages. Available in PDF, EPUB and Kindle. Book excerpt: This User’s Guide is intended to support the design, implementation, analysis, interpretation, and quality evaluation of registries created to increase understanding of patient outcomes. For the purposes of this guide, a patient registry is an organized system that uses observational study methods to collect uniform data (clinical and other) to evaluate specified outcomes for a population defined by a particular disease, condition, or exposure, and that serves one or more predetermined scientific, clinical, or policy purposes. A registry database is a file (or files) derived from the registry. Although registries can serve many purposes, this guide focuses on registries created for one or more of the following purposes: to describe the natural history of disease, to determine clinical effectiveness or cost-effectiveness of health care products and services, to measure or monitor safety and harm, and/or to measure quality of care. Registries are classified according to how their populations are defined. For example, product registries include patients who have been exposed to biopharmaceutical products or medical devices. Health services registries consist of patients who have had a common procedure, clinical encounter, or hospitalization. Disease or condition registries are defined by patients having the same diagnosis, such as cystic fibrosis or heart failure. The User’s Guide was created by researchers affiliated with AHRQ’s Effective Health Care Program, particularly those who participated in AHRQ’s DEcIDE (Developing Evidence to Inform Decisions About Effectiveness) program. Chapters were subject to multiple internal and external independent reviews.
Book Synopsis Agrobacterium: From Biology to Biotechnology by : Tzvi Tzfira
Download or read book Agrobacterium: From Biology to Biotechnology written by Tzvi Tzfira and published by Springer Science & Business Media. This book was released on 2007-12-25 with total page 768 pages. Available in PDF, EPUB and Kindle. Book excerpt: Agrobacterium is a plant pathogen which causes the “crown-gall” disease, a neoplastic growth that results from the transfer of a well-defined DNA segment (“transferred DNA”, or “T-DNA”) from the bacterial Ti (tumor-inducing) plasmid to the host cell, its integration into the host genome, and the expression of oncogenes contained on the T-DNA. The molecular machinery, needed for T-DNA generation and transport into the host cell and encoded by a series of chromosomal (chv) and Ti-plasmid virulence (vir) genes, has been the subject of numerous studies over the past several decades. Today, Agrobacterium is the tool of choice for plant genetic engineering with an ever expanding host range that includes many commercially important crops, flowers, and tree species. Furthermore, its recent application for the genetic transformation of non-plant species, from yeast to cultivated mushrooms and even to human cells, promises this bacterium a unique place in the future of biotechnological applications. The book is a comprehensive volume describing Agrobacterium's biology, interactions with host species, and uses for genetic engineering.
Book Synopsis Molecular Genetics of Cardiac Electrophysiology by : C. Berul
Download or read book Molecular Genetics of Cardiac Electrophysiology written by C. Berul and published by Springer Science & Business Media. This book was released on 2000-04-30 with total page 396 pages. Available in PDF, EPUB and Kindle. Book excerpt: The molecular basis for atrial fibrillation continues to be largely unknown, and therapy remains unchanged, aimed at controlling the heart rate and preventing systemic emboli with anticoagulation. Familial atrial fibrillation is more common than previously suspected. While atrial fibrillation is commonly associated with acquired heart disease, a significant proportion of individuals have early onset without other forms of heart disease, referred to as "lone" atrial fibrillators. It is also well recognized that atrial fibrillation occurs on a reversible or functional basis, without associated structural heart disease, such as with hyperthyroidism or of atrial fibrillation following surgery. It remains to be determined what percentage in these individuals is familial or due to a genetic predisposition. Mapping the locus for familial atrial fibrillation is the first step towards the identification of the gene. Isolation of the gene and subsequent identification of the responsible molecular genetic defect should provide a point of entry into the mechanism responsible for the familial form and the common acquired forms of the disease and eventually provide more effective therapy. We know that the ionic currents responsible for the action potential of the atrium is due to multiple channel proteins as is electrical conduction throughout the atria. Analogous to the ongoing genetic studies in patients with familial long QT syndrome, it is highly likely that defects in each of these channel proteins will be manifested in familial atrial fibrillation.
Book Synopsis A Guide to Human Gene Therapy by : Roland W. Herzog
Download or read book A Guide to Human Gene Therapy written by Roland W. Herzog and published by World Scientific. This book was released on 2010 with total page 415 pages. Available in PDF, EPUB and Kindle. Book excerpt: 1. Non-viral gene therapy / Sean M. Sullivan -- 2. Adenoviral vectors / Stuart A. Nicklin and Andrew H. Baker -- 3. Retroviral vectors and integration analysis / Cynthia C. Bartholomae [und weitere] -- 4. Lentiviral vectors / Janka Matrai, Marinee K.L. Chuah and Thierry VandenDriessche -- 5. Herpes simplex virus vectors / William F. Goins [und weitere] -- 6. Adeno-Associated Viral (AAV) vectors / Nicholas Muzyczka -- 7. Regulatory RNA in gene therapy / Alfred. S. Lewin -- 8. DNA integrating vectors (Transposon, Integrase) / Lauren E. Woodard and Michele P. Calos -- 9. Homologous recombination and targeted gene modification for gene therapy / Matthew Porteus -- 10. Gene switches for pre-clinical studies in gene therapy / Caroline Le Guiner [und weitere] -- 11. Gene therapy for central nervous system disorders / Deborah Young and Patricia A. Lawlor -- 12. Gene therapy of hemoglobinopathies / Angela E. Rivers and Arun Srivastava -- 13. Gene therapy for primary immunodeficiencies / Aisha Sauer, Barbara Cassani and Alessandro Aiuti -- 14. Gene therapy for hemophilia / David Markusic, Babak Moghimi and Roland Herzog -- 15. Gene therapy for obesity and diabetes / Sergei Zolotukhin and Clive H. Wasserfall -- 16. Gene therapy for Duchenne muscular dystrophy / Takashi Okada and Shin'ichi Takeda -- 17. Cancer gene therapy / Kirsten A.K. Weigel-Van Aken -- 18. Gene therapy for autoimmune disorders / Daniel F. Gaddy, Melanie A. Ruffner and Paul D. Robbins -- 19. Gene therapy for inherited metabolic storage diseases / Cathryn Mah -- 20. Retinal diseases / Shannon E. Boye, Sanford L. Boye and William W. Hauswirth -- 21. A brief guide to gene therapy treatments for pulmonary diseases / Ashley T. Martino, Christian Mueller and Terence R. Flotte -- 22. Cardiovascular disease / Darin J. Falk, Cathryn S. Mah and Barry J. Byrne
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 1701 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Book Synopsis Data Mining in Bioinformatics by : Jason T. L. Wang
Download or read book Data Mining in Bioinformatics written by Jason T. L. Wang and published by Springer Science & Business Media. This book was released on 2005 with total page 356 pages. Available in PDF, EPUB and Kindle. Book excerpt: Written especially for computer scientists, all necessary biology is explained. Presents new techniques on gene expression data mining, gene mapping for disease detection, and phylogenetic knowledge discovery.
Book Synopsis Pathology of the Lungs E-Book by : Bryan Corrin
Download or read book Pathology of the Lungs E-Book written by Bryan Corrin and published by Elsevier Health Sciences. This book was released on 2011-02-25 with total page 785 pages. Available in PDF, EPUB and Kindle. Book excerpt: With an emphasis on practical diagnostic problem solving, Pathology of the Lungs, 3rd Edition provides the pulmonary pathologist and the general surgical pathologist with an accessible, comprehensive guide to the recognition and interpretation of common and rare neoplastic and non-neoplastic lung conditions. The text is written by two authors and covers all topics in a consistent manner without the redundancies or lapses that are common in multi-authored texts. The text is lavishly illustrated with the highest quality illustrations which accurately depict the histologic, immunohistochemical and cytologic findings under consideration and it is supplemented throughout with practical tips and advice from two internationally respected experts. The user-friendly design and format allows rapid access to essential information and the incorporation throughout of relevant clinical and radiographic information makes it a complete diagnostic resource inside the reporting room. Approximately 1,000 high quality full color illustrations.Provides the user with a complete visual guide to each specimen and assists in the recognition and diagnosis of any slide looked at under the microscope. Comprehensive coverage of both common and rare lung diseases and disorders. One stop consultation resource for the reporting room or study, no need to go further to get questions answered. Clinical background and ancillary radiographs incorporated throughout.Provides the user with all of the necessary diagnostic tools to make a complete and accurate pathologic report. Practical advice and tips from two of the world’s recognized experts. Provides the trainee and general surgical pathologist with time saving diagnostic clues when dealing with difficult specimens. Consistent and uniform approach incorporated for each disease and disorder (Etiology, pathogenesis, clinical features, pathologic features, differential diagnosis) User-friendly format enables quick and easy navigation to the key information required. Extensive use of summary tables, charts and graphs throughout the text. Helps simplify and clarify complex concepts and facilitates “at a glance comparisons between entities. Extensive reference list highlights landmark articles as well as including most up-to-date citations. Directs the trainee and practitioner to the most recent and authoritative sources for further reading and investigation
Book Synopsis Molecular and Quantitative Animal Genetics by : Hasan Khatib
Download or read book Molecular and Quantitative Animal Genetics written by Hasan Khatib and published by John Wiley & Sons. This book was released on 2015-03-02 with total page 336 pages. Available in PDF, EPUB and Kindle. Book excerpt: Animal genetics is a foundational discipline in the fields of animal science, animal breeding, and veterinary sciences. While genetics underpins the healthy development and breeding of all living organisms, this is especially true in domestic animals, specifically with respect to breeding for key traits. Molecular and Quantitative Animal Genetics is a new textbook that takes an innovative approach, looking at both quantitative and molecular breeding approaches. The bookprovides a comprehensive introduction to genetic principles and their applications in animal breeding. This text provides a useful overview for those new to the field of animal genetics and breeding, covering a diverse array of topics ranging from population and quantitative genetics to epigenetics and biotechnology. Molecular and Quantitative Animal Genetics will be an important and invaluable educational resource for undergraduate and graduate students and animal agriculture professionals. Divided into six sections pairing fundamental principles with useful applications, the book's comprehensive coverage will make it an ideal fit for students studying animal breeding and genetics at any level.
Book Synopsis Molecular Evolutionary Genetics by : Masatoshi Nei
Download or read book Molecular Evolutionary Genetics written by Masatoshi Nei and published by Columbia University Press. This book was released on 1987 with total page 526 pages. Available in PDF, EPUB and Kindle. Book excerpt: -- "The Scientist"
Book Synopsis Toxicological Profile for Acrolein by :
Download or read book Toxicological Profile for Acrolein written by and published by . This book was released on 2007 with total page 232 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Book Synopsis Genetics in Medicine by : James Scott Thompson
Download or read book Genetics in Medicine written by James Scott Thompson and published by Philadelphia ; Toronto : W.B. Saunders. This book was released on 1973 with total page 424 pages. Available in PDF, EPUB and Kindle. Book excerpt:
