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The Child: An Encyclopedic Companion offers both parents and professionals access to the best scholarship from all areas of child studies in a remarkable one-volume reference. Bringing together contemporary research on children and childhood from pediatrics, child psychology, childhood studies, education, sociology, history, law, anthropology, and other related areas, The Child contains more than 500 articles—all written by experts in their fields and overseen by a panel of distinguished editors led by anthropologist Richard A. Shweder. Each entry provides a concise and accessible synopsis of the topic at hand. For example, the entry “Adoption” begins with a general definition, followe...
In a field where even experts may find that years have elapsed since they last encountered a child with a given disorder, it is essential for the clinician to have a comprehensive source of practical and highly illustrated information covering the whole spectrum of metabolic disease to refer to. The second edition of this highly regarded book, authored by three of the foremost authorities in pediatric metabolic medicine, fulfils this need by providing an invaluable insight into the problems associated with metabolic diseases. For ease of reference, Atlas of Metabolic Disease is divided into sections of related disorders, such as disorders of amino acid metabolism, lipid storage disorders and...
Since 1927, Goldman-Cecil Medicine has been the world's most influential internal medicine resource. In the ground-breaking 25th edition, your original purchase ensures you will be up-to-date without the need for a subscription. Through the new, more powerful Expert Consult eBook platform, this "living text" provides continuous updates that will integrate the latest research, guidelines, and treatments into each chapter, ensuring that the content is as current as the day this edition was first published. Goldman-Cecil Medicine offers definitive, unbiased guidance on the evaluation and management of every medical condition, presented by a veritable "Who's Who" of modern medicine. A practical,...
JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.
Stay on the cutting edge with the newly revised eBook of Goldman’s Cecil Medicine, with over 400 updates personally selected by Dr. Lee Goldman and integrated directly into each chapter. Since 1927, Goldman’s Cecil Medicine has been the world’s most influential internal medicine resource and now in its 24th edition, continues to set the standard for all other references of its kind. Edited by Lee Goldman, MD and Andrew I. Schafer, MD, this is quite simply the fastest and best place to find all of the definitive, state-of-the-art clinical answers you need to understand, diagnosis, or treat essentially anything you are going to encounter. At your fingertips, you'll find authoritative, un...
JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.
JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.
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.
This updated and enlarged second edition is a unique source of information on the diagnosis, treatment, and follow-up of metabolic diseases. The clinical and laboratory data characteristic of rare metabolic conditions can be bewildering for clinicians and laboratory personnel alike – reference laboratory data is scattered, and clinical descriptions can be obscure. The new Physician’s Guide with the additional more than 600 diseases now featured, documents 1200 conditions grouped according to type of disorder, organ system affected (e.g. liver, kidney, etc) or phenotype (e.g. neurological, hepatic, etc). It includes relevant clinical findings and highlights the pathological values for diagnostic metabolites. Guidance on appropriate biochemical genetic testing is also provided and established experimental therapeutic protocols are described, with recommendations on follow-up and monitoring. The authors are acknowledged experts, and the book is a valuable desk reference for all who deal with inherited metabolic diseases. Chapter 73 is available open access under a Creative Commons Attribution 4.0 International License via link.springer.com
JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.