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Neonatology
This new textbook wants to offer to neonatologists and pediatricians a modern and complete view of the various problems and aspects of neonatology, currently one of the most complex and advanced fields of pediatrics. The first chapters will be dedicated to the epidemiology of neonatal mortality and morbidity and to the conditions responsible for neonatal risk. A section will be devoted to organizational problems of hospitals and home services for efficient modern neonatal and infant care. Particular attention will be paid to neonatal care, medico-legal questions, examination of newborns and current availability of laboratory facilities and instrumentation for identification of perinatal abno...
Physician's Guide to the Treatment and Follow-Up of Metabolic Diseases
This reference provides concise information on the treatment and management of inherited metabolic diseases for the clinician. World experts cover all commonalities of therapy giving practical advice and guidance for daily practice. All established treatment protocols in this quickly developing area of medicine are clearly described, including follow-up protocols and monitoring. Alternative and experimental therapies are also described and evaluated. Numerous tables, figures, and several indices (symptom, disease name, tests, etc.) allow rapid access to specific details. This book is invaluable to anyone dealing with patients with inherited metabolic diseases, pediatricians, internists, neurologists, and clinical geneticists.
Inborn Metabolic Diseases
Being up to Date: Status Quo and Trends of Treatment For those involved in the identification and management of patients with inborn errors of metabolism, this book is now recognised as the standard textbook in this interdisciplinary field. It has proved to be indispensable for professionals in specialities ranging from pediatrics, neonatology, pathological biochemistry and genetics to neurology, internal medicine, nursing, dietetics and psychology. This 5th edition has been extensively revised and updated. What ́s new - Additional chapter focusing on inborn errors affecting adults, particularly the late neurological presentations - Numerous updates on diagnostic procedures and treatment - ...
Inborn Metabolic Diseases
This classical textbook has become indispensable for those in the front line dealing with metabolic disorders. The book is aimed at all those involved with this specialty including pediatricians, biochemists, dieticians, neurologists, internists, geneticists, psychologists, nurses, and social workers. This 4th edition has been thoroughly updated and revised. One new chapter on Neonatal screening by tandem MS/MS has been added and several new groups of disorders have been included. The book’s main feature is the strong emphasis on clinical presentation and treatment in acute and chronic situation.
Victor McKusick and the History of Medical Genetics
This book is being planned as a tribute to Dr. Victor A. McKusick (1921-2008), who is well known as the “father of medical genetics”. He was long associated with the Johns Hopkins University School of Medicine, first as a student in the 1940s, and later as a faculty member, becoming the Chairman of the Department of Medicine at Johns Hopkins. He was a co-founder of GENOMICS and founder and lifelong editor of Mendelian Inheritance in Man, a massive compendium of human syndromes and genetic variants. Dr. McKusick made distinguished contributions to all branches of medical genetics. He was a member of the U.S. National Academy of Sciences and many other academies in the world. He was awarde...
Neurocutaneous Disorders
'The reader is most definitely in for a treat provides the essential clinical and genetic data which points the way to the future.'From the foreword by Roger N. RosenbergThe neurocutaneous disorders comprise a group of neurological disorders featuring skin lesions and often eye lesions, central and peripheral nervous system tumors, brain malformations, mental retardation, and psychiatric syndromes or seizures. This book provides an authoritative, illustrated review of the recognition, investigation, treatment and genetics of these disorders. It will be essential reading for neurologists as well as dermatologists, geneticists and pediatricians.
Physician’s Guide to the Laboratory Diagnosis of Metabolic Diseases
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.
Plumbers and Visionaries
Plumbers and Visionaries: Securities Settlement and Europe’s Financial Market is a path-breaking account of the history and future of the securities settlement industry in Europe. Written by experienced journalist and author, Peter Norman, this book takes a look at the less visible, but nevertheless critical segment of the global capital markets, following the development of securities settlement across Europe’s frontiers. It encompasses the free-wheeling days of the Eurobond market in the 1960s, through the growing integration of the European Union, to the highly regulated and efficient multi-trillion euro business securities settlement it is today. This book is the story of a financial...
The Impact of Protein Chemistry on the Biomedical Sciences
The Impact of Protein Chemistry on the Biomedical Sciences focuses on the structure, function, and synthesis of proteins. This book examines the various approaches on how amino acids are polymerized in vitro, which involves the physical, chemical, immunological, enzymologic, biosynthetic, and organic synthetic techniques. Comprised of five parts encompassing 27 chapters, this book starts with an overview of Christian B. Anfinsen's role in the development of protein chemistry and the training of scientists who have advanced their experiences in his laboratory to pioneer in the field of biological and medical sciences. This text then examines the synthesis of albumin molecule in the bloodstream as it carries cystine, hematin, bilirubin, fatty acids, and aromatic compounds. Other chapters discuss the kinetic experiments of hydrogen exchange in aqueous solution between peptide molecules and solvent water. This text also introduces the reader to the lipoprotein–atherosclerosis connection by studying the metabolism of plasma lipoproteins. This book is a valuable source of information for biologists, chemical biologists, scientists, and students.
Homocysteine and Vascular Disease
This is an important and timely volume. The history of research in homocysteine metabolism can be divided into three periods. The first phase was the exploration of the individual reactions and metabolites that characterize the transmethylation and transsulfuration sequences. The former originated with his description of the biosynthesis of methylpyridine and culminated in the work of Cantoni and Axelrod. Similarly the finding that insulin contained cystine was a potent catalyst for the metabolic and nutritional studies of Rose and du Vigneaud. The description and the definition of homocystinuria, a rare inherited meta bolic disorder, marked the beginning of the second historical period. Whe...
