Nenad Blau - Böcker

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

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

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.

No detailed description available for "Zurich, Switzerland, September 3–8, 1989".