Laboratory Guide To The Methods In Biochemical Genetics

Author : Nenad Blau
Publisher : Springer Science & Business Media
ISBN 13 : 3540766987
Total Pages : 860 pages
Book Rating : 4.88/5 ( download)

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Download or read book Laboratory Guide to the Methods in Biochemical Genetics written by Nenad Blau and published by Springer Science & Business Media. This book was released on 2008-05-31 with total page 860 pages. Available in PDF, EPUB and Kindle. Book excerpt: This manual deals specifically with laboratory approaches to diagnosing inborn errors of metabolism. The key feature is that each chapter is sufficiently detailed so that any individual can adopt the described method into their own respective laboratory.

Author : Emmanuel Shapira
Publisher : Oxford University Press, USA
ISBN 13 : 9780195051353
Total Pages : 145 pages
Book Rating : 4.51/5 ( download)

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Download or read book Biochemical Genetics written by Emmanuel Shapira and published by Oxford University Press, USA. This book was released on 1989 with total page 145 pages. Available in PDF, EPUB and Kindle. Book excerpt: The most comprehensive laboratory manual of its kind, this book summarizes the common assays and laboratory procedures used for the diagnosis of genetic biochemical disorders. Written in cookbook fashion, it provides detailed descriptions of the procedures currently used in the diagnostic work-up of patients with underlying inherited inborn errors of metabolism. General procedures and buffer preparations are discussed. Fluorometric and spectrophotometric assays for lysosomal and non-lysosomal enzymes, radioisotope methods, and tests for metabolic disorders such as qualitative spot tests and thin-layer chromatography are included. For each assay, the authors list the tissues to which it has been applied, control ranges for leukocyte and fibroblast preparations, and commercial sources of substrates. Clear and concise, this guidebook is designed to be accessible even to those with limited experience, and will be an invaluable aid for genetics laboratories and medical geneticists.

Author : Georg F. Hoffmann
Publisher : Springer Science & Business Media
ISBN 13 : 3540747230
Total Pages : 380 pages
Book Rating : 4.39/5 ( download)

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Download or read book Inherited Metabolic Diseases written by Georg F. Hoffmann and published by Springer Science & Business Media. This book was released on 2009-11-21 with total page 380 pages. Available in PDF, EPUB and Kindle. Book excerpt: The explosion of insights in the field of metabolic disease has shed new light on diagnostic as well as treatment options. ‘Inherited Metabolic Disease – A Clinical Approach’ is written with a reader-friendly consistent structure. It helps the reader to find the information in an easily accessible and rapid way when needed. Starting with an overview of the major groups of metabolic disorders it includes algorithms with questions and answers as well as numerous graphs, metabolic pathways, and an expanded index. Clinical and diagnostic details with a system and symptom based are given to facilitate an efficient and yet complete diagnostic work-up of individual patients. Further, it offers helpful advice for emergency situations, such as hypoglycemia, hyperammonemia, lactic acidosis or acute encephalopathy. Five different indices allow a quick but complete orientation for common important constellations. Last but not least, it has an appendix with a guide to rapid differential diagnosis of signs and symptoms and when not to suspect metabolic disease. It will help physicians to diagnose patients they may otherwise fail to diagnose and to reduce unnecessary referrals. For metabolic and genetic specialists especially the indices will be helpful as a quick look when being called for advice. It has all it needs to become a gold standard defining the clinical practice in this field.

Author : Nenad Blau
Publisher : Springer Science & Business Media
ISBN 13 : 9783540425427
Total Pages : 770 pages
Book Rating : 4.2X/5 ( download)

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Download or read book Physician's Guide to the Laboratory Diagnosis of Metabolic Diseases written by Nenad Blau and published by Springer Science & Business Media. This book was released on 2003 with total page 770 pages. Available in PDF, EPUB and Kindle. Book excerpt: Delay and mistakes in the diagnosis of inherited metabolic diseases may have devastating consequences. Reference laboratory data are scattered and clinical descriptions of rare conditions are hard to locate. This book describes 298 disorders, grouped into 35 chapters according to the type of condition. Within each group of disorders, chapters provide tables of pertinent clinical findings as well as reference and pathological values for crucial metabolites. Relevant metabolic pathways and diagnostic flow charts are included. There are four indices to make the book as user-friendly as possible: Disorders index, Signs and symptoms index, Organs index, and Tests index. The Physician's Guide provides paediatricians and other physicians with a unique aid to help them select the correct diagnosis from a bewildering array of complex clinical and laboratory data. The book includes a CD-ROM with search function.

Author : Alexander J. Ninfa
Publisher : John Wiley & Sons
ISBN 13 : 0470087668
Total Pages : 480 pages
Book Rating : 4.64/5 ( download)

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Download or read book Fundamental Laboratory Approaches for Biochemistry and Biotechnology written by Alexander J. Ninfa and published by John Wiley & Sons. This book was released on 2009-05-26 with total page 480 pages. Available in PDF, EPUB and Kindle. Book excerpt: Ninfa/Ballou/Benore is a solid biochemistry lab manual, dedicated to developing research skills in students, allowing them to learn techniques and develop the organizational approaches necessary to conduct laboratory research. Ninfa/Ballou/Benore focuses on basic biochemistry laboratory techniques with a few molecular biology exercises, a reflection of most courses which concentrate on traditional biochemistry experiments and techniques. The manual also includes an introduction to ethics in the laboratory, uncommon in similar manuals. Most importantly, perhaps, is the authors' three-pronged approach to encouraging students to think like a research scientist: first, the authors introduce the scientific method and the hypothesis as a framework for developing conclusive experiments; second, the manual's experiments are designed to become increasingly complex in order to teach more advanced techniques and analysis; finally, gradually, the students are required to devise their own protocols. In this way, students and instructors are able to break away from a "cookbook" approach and to think and investigate for themselves. Suitable for lower-level and upper-level courses; Ninfa spans these courses and can also be used for some first-year graduate work.

Author : R. S. Sengar
Publisher : Nipa
ISBN 13 : 9788119215744
Total Pages : 0 pages
Book Rating : 4.45/5 ( download)

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Download or read book Laboratory Manual of Biochemistry written by R. S. Sengar and published by Nipa. This book was released on 2023-07-08 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book contains 15 chapters covering crop production, crop improvement, crop protection, etc

Author : McKinsey L. Goodenberger
Publisher : Oxford University Press
ISBN 13 : 0190604921
Total Pages : 409 pages
Book Rating : 4.29/5 ( download)

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Download or read book Practical Genetic Counseling for the Laboratory written by McKinsey L. Goodenberger and published by Oxford University Press. This book was released on 2017 with total page 409 pages. Available in PDF, EPUB and Kindle. Book excerpt: This is an essential manual for the future of genetic counselling. It codifies the theory and practice of laboratory genetic counselling in an accessible and comprehensive format. With contributions from laboratorians, geneticists, and genetic counsellors from more than 30 institutions, it offers a manual of standards and practices that will benefit students and counsellors at any career stage

Author : Benjamin Harrow
Publisher :
ISBN 13 :
Total Pages : 164 pages
Book Rating : 4.99/5 ( download)

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Download or read book Laboratory Manual of Biochemistry written by Benjamin Harrow and published by . This book was released on 1955 with total page 164 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Author : Ulf Kristoffersson
Publisher : Springer Science & Business Media
ISBN 13 : 9048139198
Total Pages : 400 pages
Book Rating : 4.94/5 ( download)

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Download or read book Quality Issues in Clinical Genetic Services written by Ulf Kristoffersson and published by Springer Science & Business Media. This book was released on 2010-06-25 with total page 400 pages. Available in PDF, EPUB and Kindle. Book excerpt: Initially genetic disorders were all considered as rare diseases. At present, in the mid of 2009, the OMIM catalogue contains information on more than 12 000 entries of which about 2500 are available for clinical testing based on the identification of the responsible gene defect. However, altogether it has been estimated that about 8 percent of a population in the economically developed countries will during their lifetime suffer from a disease mainly as the result of their genetic constitution. Adding to that, it is estimated that all diseases have a genetic component, which will determine who will be at a higher than average risk for a certain disorder. Further it is postulated that in the near future, this genetic profiling could become useful in selecting an appropriate therapy adapted to the genetic constitution of the person. Thus, genetic disorders are not rare. Measuring quality of health care related processes became an issue in the 1990s, mainly in laboratory medicine, but also for hospitals and other health care systems. In many countries national authorities started to implement recommendations, guidelines or legal procedures regulating quality of health care delivery. In laboratory medicine, in parallel, the use of accreditation as a method assuring high quality standards in testing came in use. With the increasing possibilities of performing molecular genetic testing, genetic laboratories needed to become involved in this process. As many genetic disorders are rare, most laboratories worldwide offered analysis for a specific set of disorders, and, therefore, very early on a transborder flow of samples occurred. While international quality criteria (ISO) have been in existence for a number of years, the regulation of quality issues still may differ between countries. Based on their personal experience in the varying fields of quality research and clinical implementation of quality criteria in genetic services the authors of this book share their experience and give examples of the implementation of quality issues in national quality systems worldwide. This book, which is the result of the effort of many persons, is destined to aid laboratory managers and counsellors, health care managers and other stakeholders in national or international health care service to improve the services to the benefit of patients with suspected genetic disorders.

Author : Martin Holtzhauer
Publisher : Springer Science & Business Media
ISBN 13 : 354032786X
Total Pages : 252 pages
Book Rating : 4.68/5 ( download)

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Download or read book Basic Methods for the Biochemical Lab written by Martin Holtzhauer and published by Springer Science & Business Media. This book was released on 2006-09-13 with total page 252 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book presents proven lab procedures and practical hints for research in analytical and preparative biochemistry, and offers convenient key data in numerous tables. Coverage includes quantitative methods; electrophoresis; chromatographic protocols; immunochemical protocols; centrifugation; and radioactivity. In additional chapters, tables offer quick access to a broad array of useful information, including SI units conversion factors; detergent, protein and nucleotide data; and the basic principles of statistics and enzyme and receptor kinetics are reviewed. This first English-language edition of a successful German-language manual is a valuable resource for students and working professionals in biochemistry, biotechnology and biomedical laboratories.