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.

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.

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.

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.

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.

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.

This book contains 15 chapters covering crop production, crop improvement, crop protection, etc