Author : Nenad Blau
Publisher : Springer Science & Business Media
Page : 860 pages
File Size : 36,66 MB
Release : 2008-05-31
Category : Medical
ISBN : 3540766987
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 : Frits A. Hommes
Publisher : Wiley-Liss
Page : 674 pages
File Size : 15,93 MB
Release : 1991
Category : Medical
ISBN :
Here is an up-to-date review of procedures currently in use in diagnostic biochemical genetics laboratories around the world. Offers not only accounts of methodology but also provides guidelines for the interpretation of both standard and abnormal results. The text includes coverage of most of the methods being employed to determine specific analyses as well as discussions of statistics and data management and the protocols of transmitting laboratory results with genetic information. Many of the chapters contain introductory sections describing background information on the development of a particular genetic test and an evaluation of the clinical significance and applicability of the test.
Author : Jean-Louis Serre
Publisher : John Wiley & Sons
Page : 270 pages
File Size : 46,81 MB
Release : 2007-01-11
Category : Science
ISBN : 0470870265
Recent developments within molecular biology and genetic engineering have led to huge advances and changes within the biological sciences especially within the field of human genetics. Diagnostic Techniques in Genetics offers an important overview of how DNA or RNA technology may be applied to a large set of genetic diagnoses. The first part of the book focuses on DNA/RNA applications and includes many of the latest developments in the field combined with routine procedures of genetic diagnoses, for example cloning and sequencing DNA. The DNA applications presented in the first chapter are then each applied to a specific kind of genetic diagnosis and the text concludes with a chapter devoted to population genetics. First published in French by Dunod in 2002, this book is an excellent reference for students taking courses in molecular biology, medicine and medical genetics. It is also a useful introduction for postgraduate students and researchers in the field who require a general overview of genetic diagnoses.
Author : Nenad Blau
Publisher : Springer Nature
Page : 531 pages
File Size : 16,28 MB
Release :
Category :
ISBN : 3031588193
Author : Institute of Medicine
Publisher : National Academies Press
Page : 353 pages
File Size : 45,39 MB
Release : 1994-01-01
Category : Medical
ISBN : 0309047986
Raising hopes for disease treatment and prevention, but also the specter of discrimination and "designer genes," genetic testing is potentially one of the most socially explosive developments of our time. This book presents a current assessment of this rapidly evolving field, offering principles for actions and research and recommendations on key issues in genetic testing and screening. Advantages of early genetic knowledge are balanced with issues associated with such knowledge: availability of treatment, privacy and discrimination, personal decision-making, public health objectives, cost, and more. Among the important issues covered: Quality control in genetic testing. Appropriate roles for public agencies, private health practitioners, and laboratories. Value-neutral education and counseling for persons considering testing. Use of test results in insurance, employment, and other settings.
Author : Nenad Blau
Publisher : Springer Science & Business Media
Page : 770 pages
File Size : 27,70 MB
Release : 2003
Category : Medical
ISBN : 9783540425427
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 : N. Blau
Publisher : Springer Science & Business Media
Page : 732 pages
File Size : 13,60 MB
Release : 2012-12-06
Category : Science
ISBN : 364255878X
This second edition of 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. Delay and mistakes in the diagnosis of inherited metabolic diseases may have devastating consequences. The guide, which includes a CD-ROM, describes 298 disorders which have been 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 three indices to make the book as user-friendly as possible.
Author : McKinsey L. Goodenberger
Publisher : Oxford University Press
Page : 409 pages
File Size : 15,33 MB
Release : 2017-02-28
Category : Medical
ISBN : 019060493X
An essential manual for the future of genetic counseling Genetic counselors possess the important set of skills necessary to face the unique challenges encountered within the laboratory. As the primary liaisons between genetic technologies and patient-facing clinicians, lab counselors must have equal competency in genetic testing protocols, interpretation, and communication of clinical recommendations. Practical Genetic Counseling for the Laboratory is the first book to codify the theory and practice of laboratory genetic counseling in an accessible and comprehensive format. With contributions from laboratorians, geneticists, and genetic counselors from more than 30 institutions, it offers a manual of standards and practices that will benefit students and counselors at any career stage. Topical coverage includes: · Interpretation of genetic tests, including those specific to biochemical genetics, cytogenetics, molecular genetics, and prenatal screening · Practical guidelines for test utilization, test development, and laboratory case management · Elements for education and training in the laboratory · Counseling skills, including the consideration of ethical dilemmas, nonclinical considerations, including sales and publishing For students in this important sector of the industry or for counselors already working in it, Practical Genetic Counseling for the Laboratory offers readers a standardized approach to a dynamic subject matter that will help shape the field's future.
Author :
Publisher :
Page : 1436 pages
File Size : 30,70 MB
Release : 1985
Category : Medicine
ISBN :
Author : Harry Harris
Publisher : Springer Science & Business Media
Page : 482 pages
File Size : 50,53 MB
Release : 2013-06-29
Category : Medical
ISBN : 1461530105
The current volume includes chapters on peroxisomal disorders, genetic aspects of cancer, Gaucher disease, and other topics.
