Inherited Metabolic Disease in Adults - read free eBook in online reader or directly download on the web page. Select files or add your book in reader. Download and read online ebook Inherited Metabolic Disease in Adults write by Carla E. M. Hollak. This book was released on 2016. Inherited Metabolic Disease in Adults available in PDF, EPUB and Kindle. As clinical management of inherited metabolic diseases (IMDs) has improved, more patients affected by these conditions are surviving into adulthood. This trend, coupled with the widespread recognition that IMDs can present differently and for the first time during adulthood, makes the need for a working knowledge of these diseases more important than ever. Inherited Metabolic Disease in Adults offers an authoritative clinical guide to the adult manifestations of these challenging and myriad conditions. These include both the classic pediatric-onset conditions and a number of new diseases that can manifest at any age. It is the first book to give a clear and concise overview of how this group of conditions affects adult patients, a that topic will become a growing imperative for physicians across primary and specialized care.
A Clinical Guide to Inherited Metabolic Diseases
A Clinical Guide to Inherited Metabolic Diseases - read free eBook in online reader or directly download on the web page. Select files or add your book in reader. Download and read online ebook A Clinical Guide to Inherited Metabolic Diseases write by Joe T. R. Clarke. This book was released on 2005-12-08. A Clinical Guide to Inherited Metabolic Diseases available in PDF, EPUB and Kindle. 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.
Inherited Metabolic Diseases
Inherited Metabolic Diseases - read free eBook in online reader or directly download on the web page. Select files or add your book in reader. Download and read online ebook Inherited Metabolic Diseases write by Georg F. Hoffmann. This book was released on 2009-11-21. Inherited Metabolic Diseases available in PDF, EPUB and Kindle. The explosion of insights in the field of metabolic disease has shed new light on diagnostic as well as treatment options. ‘Inherited Metabolic Disease – A Clinical Approach’ is written with a reader-friendly consistent structure. It helps the reader to find the information in an easily accessible and rapid way when needed. Starting with an overview of the major groups of metabolic disorders it includes algorithms with questions and answers as well as numerous graphs, metabolic pathways, and an expanded index. Clinical and diagnostic details with a system and symptom based are given to facilitate an efficient and yet complete diagnostic work-up of individual patients. Further, it offers helpful advice for emergency situations, such as hypoglycemia, hyperammonemia, lactic acidosis or acute encephalopathy. Five different indices allow a quick but complete orientation for common important constellations. Last but not least, it has an appendix with a guide to rapid differential diagnosis of signs and symptoms and when not to suspect metabolic disease. It will help physicians to diagnose patients they may otherwise fail to diagnose and to reduce unnecessary referrals. For metabolic and genetic specialists especially the indices will be helpful as a quick look when being called for advice. It has all it needs to become a gold standard defining the clinical practice in this field.
Physician’s Guide to the Laboratory Diagnosis of Metabolic Diseases
Physician’s Guide to the Laboratory Diagnosis of Metabolic Diseases - read free eBook in online reader or directly download on the web page. Select files or add your book in reader. Download and read online ebook Physician’s Guide to the Laboratory Diagnosis of Metabolic Diseases write by N. Blau. This book was released on 2012-12-06. Physician’s Guide to the Laboratory Diagnosis of Metabolic Diseases available in PDF, EPUB and Kindle. 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.
Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases
Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases - read free eBook in online reader or directly download on the web page. Select files or add your book in reader. Download and read online ebook Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases write by Nenad Blau. This book was released on 2014-07-08. Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases available in PDF, EPUB and Kindle. This book, combining and updating two previous editions, 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 both clinicians and laboratory personnel. Reference laboratory data are scattered, and clinical descriptions may be obscure. The Physician’s Guide documents the features of more than five hundred conditions, grouped according to type of disorder, organ system affected (e.g. liver, kidney, etc) or phenotype (e.g. neurological, hepatic, etc). Relevant clinical findings are provided and pathological values for diagnostic metabolites highlighted. Guidance on appropriate biochemical genetic testing is provided. Established experimental therapeutic protocols are described, with recommendations on follow-up and monitoring. The authors are acknowledged experts, and the book will be a valuable desk reference for all who deal with inherited metabolic diseases.
