Genetic metabolic diseases
著者
書誌事項
Genetic metabolic diseases
（Perspectives in pediatric pathology, Vol.17）
Karger, 1993
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注記
Includes bibliographies and index
内容説明・目次
内容説明
This volume features selected childhood diseases based on a variety of metabolic abnormalities: neuronal ceroid-lipofuscinosis, peroxisomal disorders, galactosemia, homocystinuria and mucolipidoses. The chapters illustrate the new insights that have recently been gained into these puzzling disorders by studies combining the traditional methods of morphology, histochemistry and electron microscopy with the newly available techniques of molecular biology. They present examples of the advances made and discuss future research directions with both traditional and molecular biological techniques. With contributions from leading specialists, the book provides general and surgical pathologists, developmental biologists, oncologists and paediatricians with convenient access to the latest findings on these uncommon genetic diseases.
目次
- Founders of paediatric pathology - Malcolm Charles Fowler and R.F. Carter
- neuronal ceroid-lipofuscinoses in childhood, J. Rapola
- pathology of peroxisomal disorders, J.E. Dimmick and D.A. Applegarth
- galactosemia - clinical and pathologic features, tissue staining patterns with labelled galactose and galactosamine-binding lectins, and possible Loci of non-enzymatic galactosylation, B.H. Landing et al
- homocystinuria - clinical and pathologic review, with emphasis on thrombotic features, including pulmonary artery thrombosis, E.R. Lieberman et al
- the mucolipidoses, E.F. Gilbert-Barness and L.A. Barness.
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