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 Laboratory Diagnosis of Inherited Metabolic Diseases
Physician's Guide to the Laboratory Diagnosis 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 Laboratory Diagnosis of Inherited Metabolic Diseases write by N. Blau. This book was released on 1998-09-04. Physician's Guide to the Laboratory Diagnosis of Inherited Metabolic Diseases available in PDF, EPUB and Kindle. 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.
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 2022-02-21. Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases available in PDF, EPUB and Kindle. 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
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 . This book was released on 1996. Physician's Guide to the Laboratory Diagnosis of Metabolic Diseases available in PDF, EPUB and Kindle.
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.
