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| Author | : Nenad Blau |
| Publisher | : Springer Science & Business Media |
| Total Pages | : 404 |
| Release | : 2006-01-16 |
| Genre | : Medical |
| ISBN | : 3540289623 |
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.
| Author | : Nenad Blau |
| Publisher | : Springer Nature |
| Total Pages | : 1514 |
| Release | : 2022-02-21 |
| Genre | : Medical |
| ISBN | : 3030677273 |
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
| Author | : N. Blau |
| Publisher | : Springer Science & Business Media |
| Total Pages | : 732 |
| Release | : 2012-12-06 |
| Genre | : Science |
| ISBN | : 364255878X |
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.
| Author | : N. Blau |
| Publisher | : CRC Press |
| Total Pages | : 544 |
| Release | : 1998-09-04 |
| Genre | : Medical |
| ISBN | : 9780412575600 |
University of Zurich, Switzerland. Handbook of inherited metabolic diseases, for physicians, clinical chemists, biochemists, and pathologists. Discusses testing and treatment options of inborn errors of metabolism. Extensive tables and flowcharts. 51 contributors, 16 U.S.
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| Total Pages | : 508 |
| Release | : 1996 |
| Genre | : Metabolism, Inborn errors of |
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| Author | : Joe T. R. Clarke |
| Publisher | : Cambridge : Cambridge University Press |
| Total Pages | : 280 |
| Release | : 1996-01 |
| Genre | : Medical |
| ISBN | : 9780521485241 |
This user-friendly clinical handbook provides a clear and concise overview of how to go about recognizing and diagnosing inherited metabolic diseases. The reader is led through the diagnostic process from the identification of those features of an illness suggesting that it might be metabolic through the selection of appropriate laboratory investigation to a final diagnosis. The book is organized into chapters according to the most prominent presenting problem of patients with inherited metabolic diseases: neurologic, hepatic, cardiac, metabolic acidosis, dysmorphism, and acute catastrophic illness in the newborn. It also includes chapters on general principles, laboratory investigation, neonatal screening, and the principles of treatment. This new edition includes much greater depth on mitochondrial disease and congenital disorders of glycosylation. The chapters on neurological syndrome and newborn screening are greatly expanded, as are those on laboratory investigation and treatment, to take account of the very latest technological developments.
| Author | : Laurie E. Bernstein |
| Publisher | : Springer Nature |
| Total Pages | : 415 |
| Release | : 2022-06-14 |
| Genre | : Medical |
| ISBN | : 3030945103 |
This text presents a compilation of topics that have been taught at Metabolic University (MU), an interactive, didactic educational program that has trained over 600 metabolic dietitians/nutritionists, physicians, nurses and genetic counselors. This book was created in 2014 for the metabolic community. The 1st edition contains only subject matter covered at Metabolic University; therefore, it is not a comprehensive treatise on Inherited Metabolic Disorders (IMD) but rather a text on the most frequently encountered challenges in IMD nutrition. Each chapter in the book highlights principles of nutrition management, how to initiate a diet, and biomarkers to monitor the diet. Recognizing that there are variations in practice, this book addresses that the key to management lies in the understanding how the inactivity of an enzyme in a metabolic pathway determines which components of the diet must be restricted and which must be supplemented as well as the monitoring of appropriate biomarkers to make diet adjustments and ensure the goals of therapy are met The 2nd edition is an updated and more extensive version covering the nutrition management of IMD, and covers a wide range of these disorders, including phenylketonuria and other aminoacidopathies, organic acidemias, urea cycle disorders, fatty acid oxidation disorders, galactosemia and glycogen storage diseases. Guidance is also provided on laboratory evaluations and biochemical testing and monitoring. Topics such as newborn screening for IMD, as well as nutrition management during pregnancy and transplantation, are also addressed. In addition, current medical management therapies is included.
| Author | : Suresh David |
| Publisher | : Wolters kluwer india Pvt Ltd |
| Total Pages | : 2432 |
| Release | : 2011-01-01 |
| Genre | : Medical |
| ISBN | : 8184732023 |
Textbook of Emergency Medicine (Vol. 1 and 2) is a comprehensive and contemporary exposition of the vast array of disorders and emergencies that might present to the emergency or casualty department of a hospital.
| Author | : Muhammad Sajid Hamid Akash |
| Publisher | : Springer Nature |
| Total Pages | : 526 |
| Release | : 2020-08-04 |
| Genre | : Science |
| ISBN | : 3030459233 |
This volume offers a detailed and comprehensive analysis of Endocrine Disrupting Chemicals (EDCs), covering their occurrence, exposure to humans and the mechanisms that lead to the parthogenesis of EDCs-induced metabolic disorders. The book is divided into three parts. Part I describes the physiology of the human endocrine system, with special emphasis on various types of metabolic disorders along with risk factors that are responsible for the development of these disorders. Part II addresses all aspects of EDCs, including their role in the induction of various risk factors that are responsible for the development of metabolic disorders. Part III covers up-to-date environmental regulatory considerations and treatment strategies that have been adopted to cure and prevent EDCs-induced metabolic disorders. This section will primarily appeal to clinicians investigating the causes and treatment of metabolic disorders. The text will also be of interest to students and researchers in the fields of Environmental Pharmacology and Toxicology, Environmental Pollution, Pharmaceutical Biochemistry, Biotechnology, and Drug Metabolism/Pharmacokinetics.
