Physicians Guide To The Laboratory Diagnosis Of Inherited Metabolic Diseases

Author : N. Blau
Publisher : Springer Science & Business Media
ISBN 13 : 364255878X
Total Pages : 732 pages
Book Rating : 4.88/5 ( download)

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Download or read book Physician’s Guide to the Laboratory Diagnosis of Metabolic Diseases written by N. Blau and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 732 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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
ISBN 13 : 9780412575600
Total Pages : 544 pages
Book Rating : 4.04/5 ( download)

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Download or read book Physician's Guide to the Laboratory Diagnosis of Inherited Metabolic Diseases written by N. Blau and published by CRC Press. This book was released on 1998-09-04 with total page 544 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Author : Nenad Blau
Publisher : Springer Nature
ISBN 13 : 3030677273
Total Pages : 1514 pages
Book Rating : 4.75/5 ( download)

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Download or read book Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases written by Nenad Blau and published by Springer Nature. This book was released on 2022-02-21 with total page 1514 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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 :
Publisher :
ISBN 13 :
Total Pages : 508 pages
Book Rating : 4.32/5 ( download)

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Download or read book Physician's Guide to the Laboratory Diagnosis of Metabolic Diseases written by and published by . This book was released on 1996 with total page 508 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Author : Joe T. R. Clarke
Publisher : Cambridge University Press
ISBN 13 : 1139447181
Total Pages : 360 pages
Book Rating : 4.88/5 ( download)

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Download or read book A Clinical Guide to Inherited Metabolic Diseases written by Joe T. R. Clarke and published by Cambridge University Press. This book was released on 2005-12-08 with total page 360 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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 : Georg F. Hoffmann
Publisher : Springer Science & Business Media
ISBN 13 : 3540747230
Total Pages : 380 pages
Book Rating : 4.39/5 ( download)

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Download or read book Inherited Metabolic Diseases written by Georg F. Hoffmann and published by Springer Science & Business Media. This book was released on 2009-11-21 with total page 380 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Author : Uttam Garg
Publisher : AACC Press
ISBN 13 : 9781594251405
Total Pages : 252 pages
Book Rating : 4.01/5 ( download)

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Download or read book Laboratory Diagnosis written by Uttam Garg and published by AACC Press. This book was released on 2012 with total page 252 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Author : Johannes Zschocke
Publisher : Schattauer Verlag
ISBN 13 : 3794528166
Total Pages : 188 pages
Book Rating : 4.65/5 ( download)

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Download or read book Vademecum Metabolicum written by Johannes Zschocke and published by Schattauer Verlag. This book was released on 2011 with total page 188 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Author : Nenad Blau
Publisher : Springer
ISBN 13 : 9783031588181
Total Pages : 0 pages
Book Rating : 4.85/5 ( download)

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Download or read book Laboratory Guide to the Methods in Biochemical Genetics written by Nenad Blau and published by Springer. This book was released on 2024-07-23 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Now in its 2nd edition, this manual describes laboratory methodology for the diagnosis of inherited metabolic diseases. The book describes a spectrum of tests, from simple screening methods via classical methods that are operational in most (if not all) biochemical laboratories, to analytical methods that depend on technologies that very few are currently employing in their labs, but are certainly the functional techniques in a biochemical laboratory in this post-genomics era. Each chapter is sufficiently detailed to be self-contained, thus enabling laboratory specialists to adopt the method in their own laboratory and obviating the need for additional methods or references. The second updated edition of the book is unique in that it is the first of its kind to be published in the last 13 years, and individual chapters have been developed by experts in the field citing both established and cutting-edge (omics) technology. Thus, it is an indispensable resource for researchers and clinicians working on the field of inherited metabolic diseases and those interested in laboratory diagnoses.

Author : Nenad Blau
Publisher : Springer
ISBN 13 : 9783540803607
Total Pages : 416 pages
Book Rating : 4.02/5 ( download)

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Download or read book Physician's Guide to the Treatment and Follow-Up of Metabolic Diseases written by Nenad Blau and published by Springer. This book was released on 2009-09-02 with total page 416 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.