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Metabolic Diseases: Foundations of Clinical Management, Genetics and Pathology
Author(s) -
GilbertBarness E.,
Barness L.
Publication year - 2001
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1023/a:1005695831875
Subject(s) - citation , human genetics , library science , medicine , genetics , bioinformatics , computer science , biology , gene
This is an impressive work ^ a substantial two-volume book with high-quality illustrations of over 800 pages. Perhaps what is most remarkable is that it is written by only two authors, in contrast to other texts of metabolic disease. This has the advantage of a higher degree of consistency in format and style. The authors state that the book aims to provide ``in a comprehensive and concise text the clinical symptomatology, cardinal manifestations, laboratory diagnostic features, molecular aspects and pathology diagnostic features of metabolic disease'', with an emphasis on the clinical and pathological expression of disease. Is it possible for only two authors to have a su¤ciently in-depth knowledge of all metabolic disease to write a comprehensive text? For the more recent discoveries the text is not always up-to-date. For example, it is stated that the location of the occipital horn syndrome (OHS) gene on the X chromosome is not known, whereas it has been known from 1994 that both OHS and Menkes disease are due to mutations within the same gene (ATP7A). There are other areas where I would judge the book to be not completely accurate. However, I do not wish to detract from the achievement of the authors. For the major pathological features and clinical presentations the book appears to do well and the overall presentation is excellent.