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Syndromes: Rapid Recognition and Perioperative Implications
Essential medical facts on over 2,000 genetic syndromes. Organized alphabetically, this book provides comprehensive medical coverage for each syndrome, from genetic basis to manifestations to related medical considerations.
Metabolic Diseases
The 2nd Edition of Metabolic Diseases provides readers with a completely updated description of the Foundations of Clinical Management, Genetics, and Pathology. A distinguished group of 31 expert authors has contributed 25 chapters as a tribute to Enid Gilbert-Barness and the late Lewis Barness--- both pioneers in this topic. Enid’s unique perspectives on the pathology of genetic disorders and Lew’s unsurpassed knowledge of metabolism integrated with nutrition have inspired the contributors to write interdisciplinary descriptions of generally rare, and always challenging, hereditary metabolic disorders. Discussions of these interesting genetic disorders are organized in the perspective o...
Progress in Medicinal Chemistry
Progress in Medicinal Chemistry
Essentials of Autopsy Practice
Essentials of Autopsy Practice updates the modern pathologist on issues related to the autopsy. This volume contains topical chapters on the pathology of shock, religious attitudes to death, incised wounds, radiological investigations, metabolic disorders in childhood, maternal deaths, body alterations and piercings which are comprehensive, unique and educational. It brings the literature together into a modern, up-to-date review of the subject, each authored by experts in their field. It comprises the most recent developments in current autopsy practice making the book unique and exceptional - a valuable aid for the bench top, autopsy suite, laboratory or library. A hands-on reference book, Essentials of Autopsy Practice is of interest to both trainees and consultants in all sub-branches of pathology including forensic pathology. It can also be used by non-medical staff involved in the dead, such as nurses, police, lawyers and bereavement officers.
The Cultured Cell and Inherited Metabolic Disease
The use of cultured cells in the clinical diagnosis of hereditary metabolic dis ease is a rapidly developing subject to which many different disciplines have brought their expertise and knowledge. A number of scientists who have in dividually contributed to the growth of the subject gave invited papers at the Fourteenth Symposium of the Society for the Study of Inborn Errors of Metabolism in the University of Edinburgh on 13-16th July, 1976. These papers form the basis of this monograph which brings together contributions from the basic sciences and from physicians concerned primarily with human disease. The cross-fertilization produced by this interdisciplinary communica tion was invaluable...
Urea Cycle Diseases
Introduction New Facets in Urea Cycle Disorders INTRODUCTION A. Lowenthal Laboratory of Neurochemistry, Born-Bunge Foundation, Universitaire Instelling Antwerpen, Wilrijk, Belgium This occasion is by no means the first meeting devoted to urea cycle diseases. It has been preceeded by meetings held in the Netherlands and in Spain. Accordingly the justification for a further meeting is not immediately evident. The reason for it is that the problems related to urea cycle diseases are developing fast, as instanced inter alia by I) the relation observed between hyperornithinemia and gyrate atrophy and the therapeutic acquisitions which result from it 2) the treatment of hyperammonemias. If the diagnosis of urea cycle disease is easily established by following standard principles and techniques, i.e. by means of amino acid analysis, with or without prior loading tests, by ammonemia measurement and by enzyme determination, also if these operations produce clear and precise conclusions in the matter of genetics and preventive medicine, yet many physiopathological questions remain unanswered and a number of therapeutic problems of these remain unsolved.
Amino Acids, Peptides, and Proteins
Annotation. Specialist Periodical Reports provide systematic and detailed review coverage of progress in the major areas of chemical research. Written by experts in their specialist fields the series creates a unique service for the active research chemist, supplying regular critical in-depth accounts of progress in particular areas of chemistry. For over 80 years the Royal Society of Chemistry and its predecessor, the Chemical Society, have been publishing reports charting developments in chemistry, which originally took the form of Annual Reports. However, by 1967 the whole spectrum of chemistry could no longer be contained within one volume and the series Specialist Periodical Reports was...
Issues in Birth Defects and Congenital and Genetic Diseases and Disorders: 2013 Edition
Issues in Birth Defects and Congenital and Genetic Diseases and Disorders: 2013 Edition is a ScholarlyEditions™ book that delivers timely, authoritative, and comprehensive information about Teratology. The editors have built Issues in Birth Defects and Congenital and Genetic Diseases and Disorders: 2013 Edition on the vast information databases of ScholarlyNews.™ You can expect the information about Teratology in this book to be deeper than what you can access anywhere else, as well as consistently reliable, authoritative, informed, and relevant. The content of Issues in Birth Defects and Congenital and Genetic Diseases and Disorders: 2013 Edition has been produced by the world’s leading scientists, engineers, analysts, research institutions, and companies. All of the content is from peer-reviewed sources, and all of it is written, assembled, and edited by the editors at ScholarlyEditions™ and available exclusively from us. You now have a source you can cite with authority, confidence, and credibility. More information is available at http://www.ScholarlyEditions.com/.
