• MeSH
• lyzozomální nemoci z ukládání MeSH
• organely patologie   MeSH
• peroxizomální poruchy MeSH

• Konspekt
• Fyziologie člověka a srovnávací fyziologie
• NLK Obory
• vnitřní lékařství

A compendium of practical information for the diagnosis and understanding of diseases of lysosomes, peroxisomes and mitochondria. This work describes how to diagnose organelle diseases using clinical, laboratory and histopathological methods. It also explains the basic pathogenesis of these diseases. The book is divided into sections which cover each organelle in turn. Within each section there is a chapter devoted to the basic biology of the organelle which explains what the organelle does, how it fulfils its metabolic function and what can go wrong with the organelle in disease states. In each section of the book devoted to the separate organelles there is a chapter on how to recognize the clinical signs and symptoms of each disease group. Next there are chapters on laboratory diagnosis, using biochemical, enzymatic and molecular techniques. Finally there are chapters devoted to histopathological and electron microscopic diagnoses involving examination of biopsy or autopsy specimens. The book also has a section on practical issues which includes a chapter on general principles underlying therapy of the organelle diseases. There are also chapters on physical examination of a patient, how to construct a pedigree in a family at risk for an organelle disease and procedures to be followed in arranging and doing a complete metabolic autopsy. There are also procedures to be followed in collecting and storing DNA samples from the family members. This should be useful both to families and medical professionals. Finally there is a chapter on Websites useful for collecting information about organelle diseases and genetic diseases in general. This includes Websites which will allow the reader to have access to lists of laboratories carrying out specific laboratory tests discussed in the book. Overall the book aims at providing a compendium, of how to recognize organelle diseases and how to confirm their diagnosis using clinical, medical and laboratory procedures. The chapters on basic biology explain the basic function of each organelle and explains how each group of diseases may be caused.

Skrytá bibl. Index: s. 441-454