Organelle Diseases
by Applegarth, Derek A.; Dimmick, James E.; Hall, Judith G.Format: Hardcover
Pub. Date: 1997-09-01
Publisher(s): Hodder Education Publishers
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Summary
Many inherited diseases are due to enzyme deficiencies located within the subcellular 'organelles'. Such diseases can have devastating effects such as mental impairment, muscle wasting or retarded growth. Early and correct diagnosis is vital so that appropriate care can be given. This bookwill be the first to provide a comprehensive coverage of these conditions with emphasis both on clinical and laboratory recognition. This unique book provides a compendium of how to recognize organelle diseases and how to confirm their diagnosis using clinical, medical and laboratory procedures. Thechapters on basic biology explain the basic function of each organelle and explains how each group of diseases may be caused.
Table of Contents
| Lysosomal disorders | |
| Introductory remarks on the lysosomal section | |
| An introduction to the basic science and biology of the lysosome and storage diseases | |
| Clinical diagnosis of lysosomal storage diseases | |
| The biochemical diagnosis of lysosomal storage diseases | |
| Anatomical pathology of lysosomal storage diseases | |
| Peroxisomal disorders | |
| Introductory remarks on the peroxisomal section | |
| Functions and biogenesis of peroxisomes | |
| Clinical diagnosis and therapy of peroxisomal diseases | |
| Laboratory diagnosis of peroxisomal disorders | |
| Pathology of peroxisomal disorders | |
| Mitochondrial disorders | |
| An overview of mitochondrial function | |
| Basic sciences and biology of the mitochondrion | |
| The clinical diagnosis of mitochondrial respiratory chain disease | |
| Pathogenesis of mitochondrial disease | |
| Laboratory diagnosis of mitochondrial disease | |
| Mitochondrial disorders mutation screening | |
| Mitochondriopathy | |
| Practical issues | |
| Therapy for organelle disorders | |
| Family history | |
| Physical examination | |
| The metabolic autopsy | |
| Appendices | |
| Index | |
| Table of Contents provided by Publisher. All Rights Reserved. |
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