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Inborn Metabolic Diseases
Each disease-related chapter begins with a detailed description of the patient and the delineating symptoms used for establishing the diagnosis and differential diagnosis. The highly detailed figures illustrate the metabolic derangement in a uniform way, together with essential aspects of the genetics involved, thus affording clarification and better understanding of the treatment. Topics covered range from general aspects such as the clinical approach, emergency treatment, diagnostic procedures, and psychosocial care for the child and the family, to specific discussions of new modes of treatment, including liver, bone marrow transplantation and somatic gene therapy.
Guanidines
In 1978, we had the first research meeting of guanidine compound analysis in Okayama, Japan. The purpose of the meeting was to standardize the methods of analyzing guanidino compounds, because the analytic methods, even, for example, that of normal plasma, were quite different from laboratory to laboratory at that time. More than ten laboratories joined in this research project. Thereafter, the purpose of the annual meetings was extended to cover general biochemistry of guanidino compounds, and every meeting has served to promote our mutual growth and progress. The last meeting of the Japan Guanidino Compounds Research Association in 1982 brought together more than 80 members, and about 30 p...
Mitochondrial Biogenesis and Genetics
The critically acclaimed laboratory standard for forty years, Methods in Enzymology is one of the most highly respected publications in the field of biochemistry. Since 1955, each volume has been eagerlyawaited, frequently consulted, and praised by researchers and reviewers alike. More than 250 volumes have been published (all of them still in print) and much of the material is relevant even today--truly an essential publication for researchers in all fields of life sciences. Key Features * Structural and functional analysis of oxidative phosphorylation complexes * Import of proteins and RNA into mitochondria * Ion and metabolite transport systems in mitochondria * Biophysical methods for mitochondrial function analysis * Mitochondrial inheritance and turnover.
Medical Biochemistry
Thoroughly updated and in a new two-color format, this well- respected text presents the fundamentals of biochemistry and related topics to students pursuing a one- or two-semester course in pre-med biochemistry or medical programs. The second edition is equally applicable to other health-related fields such as clinical chemistry, medical technology or pharmacology. Medical Biochemistry, Fourth Edition, focuses on the foundations and clinically relevant applications of normal human biochemistry and pathology. Abundantly illustrated with four-color plates.Revised chapters on molecular biology reflect the latest research in the fieldTwo color throughout with four color platesReference quality appendices include practical information on clinical lab parameters used to diagnose a range of diseases
Thirty Years of Progress in Mitochondrial Bioenergetics and Molecular Biology
The topics contained in this book represent timely and currently exciting areas of research focused on mitochondria. It forms a comprehensive and up-to-date record of present knowledge at the molecular level of many important mitochondrial processes. Major achievements as well as new openings in the field have been stressed in many of the contributions to the book. Thus, it represents a valuable source and reference book, comprising the most recent results in this area. The topics treated should attract the attention of scientists from various fields, who are interested in bioenergetics, molecular biology and pathology of mitochondria.
Neonatal Screening for Inborn Errors of Metabolism
Although neonatal screening was begun only 20 years ago, and is consequently still in its early stages, it is already a classic example of efficient preventive pediatrics. At present, routine neonatal screening covering a satisfactory percentage of newborn babies is carried out in only a small part ofthe world. For some five diseases enough infants have been screened to give reasonably reliable information about the frequency of these diseases in various populations. Interesting differences are beginning to appear in popula tions of different ethnic and racial background. The medical importance of neonatal screening is especially obvious in metabolic diseases that are not too rare and for which effective treatment depends upon an early diagnosis, such as phenylketonuria, galactosemia, and - a more recent screening pro gram - hypothyroidism. About 1 of 4000 newborns is affected with hypothyroidism and can receive timely substitution with thyroid hormone. Of 34.5 million babies tested for phenylketonuria, 3000 cases have been diagnosed in time to prevent mental retardation by means of dietary therapy.
Serological Cancer Markers
The purpose of this book-the fourth volume of a series on Can cer Markers-is intended to provide an updated "status report" on today's use of cancer markers in the diagnosis and monitoring of can cer, with an emphasis on cancer markers detected in the serum. It has been 7 years since the publication of the last volume in this series. The 1980, 1982, and 1985 volumes covered the development of cancer markers, not only in their roles of unraveling the basic biology of can cer, but also as increasingly important players in the management of patients with cancer. During the last 7 years we have seen the applica tion of a number of markers identified by monoclonal antibodies, as well as the begin...
The Women's Guide to Thyroid Health
In The Women's Guide to Complete Thyroid Health, readers explore their family health history, assess their symptoms, and, along with their healthcare providers, create a personalized testing and treatment plan designed to restore healthy, balanced thyroid output.
Mitochondrial Dysfunction
Methods in Toxicology, Volume 2: Mitochondrial Dysfunction provides a source of methods, techniques, and experimental approaches for studying the role of abnormal mitochondrial function in cell injury. The book discusses the methods for the preparation and basic functional assessment of mitochondria from liver, kidney, muscle, and brain; the methods for assessing mitochondrial dysfunction in vivo and in intact organs; and the structural aspects of mitochondrial dysfunction are addressed. The text also describes chemical detoxification and metabolism as well as specific metabolic reactions that are especially important targets or indicators of damage. The methods for measurement of alteration...
