close

Вход

Забыли?

вход по аккаунту

?

89

код для вставкиСкачать
American Journal of Medical Genetics 78:94 (1998)
Book Review
A CLINICAL GUIDE TO INHERITED
METABOLIC DISEASES.
By J.T.R. Clarke.
Cambridge, New York, Melbourne: Cambridge
University Press, 1996, xix, 280 pp.
Until recently, I could not imagine a textbook dealing
with inherited metabolic diseases that could compete
with The Metabolic and Molecular Bases in Inherited
Disease, edited by Charles Scriver and his colleagues.
This is for three reasons: first, the aforementioned textbook is extremely comprehensive with extensive basic
and clinical information that includes new developments; second, the chapters are written by experts in
each area from all over the globe; and third, it is edited
by a group of well-known and respected biochemical
geneticists. But, can one carry three large volumes everywhere, can anybody short of being a fine specialist
in the field read all that text, and finally, can everybody
afford to buy a copy? Chances are that the answer to
one or more of these questions is no. This is where the
present book comes in. It is small in size, covering most
areas in metabolic disease in broad terms, and is affordable. Its single author is also a well-known clinical
biochemical geneticist with long experience gained
through his activities at the Hospital for Sick Children
and the University of Toronto.
This handbook consists of 10 clearly written chapters. The first chapter deals with the general principles
which appear necessary as an introduction to the topic.
Six other chapters deal with major categories of metabolic presentations or syndromes that include neurologic syndromes, metabolic acidosis, hepatic syndromes, cardiac syndromes, storage disorders and dys-
© 1998 Wiley-Liss, Inc.
morphogenesis, and acute neonatal metabolic illness.
Another chapter is on hyperphenylalaninemia and
screening for PKU, an opportunity for the author to
emphasize a model of a relatively common, easily diagnosable and treatable inborn error of metabolism as
well as to discuss genetic screening. The last two chapters deal with laboratory investigations and approaches and various treatment forms in brief. For a
short text, a particular strength here is the inclusion of
much information in easy-to-read tables, and the use of
many excellent diagrams and figures.
This handbook will be useful to any busy physician
needing to determine whether a patient is presenting
with an inherited metabolic disease, and where to go
from there to establish a diagnosis. I strongly recommend that more than one copy of this book be made
available to any pediatric department library. I believe
that it should be read thoroughly by any pediatric resident, genetic resident, or clinical fellow caring for patients with metabolic disorders and preparing for board
examinations. Also, it would be useful to nonexpert
physicians in overcoming the intimidation they may
experience when dealing with metabolic problems. Finally, I am sure that it would be helpful to any clinical
geneticist as a quick reference, provided that a traditional text such as that by Scriver et al. is also readily
available.
Ahmad S. Teebi, MD
Division of Medical Genetics
Montreal Children’s Hospital
McGill University
Montreal, Quebec, Canada
Документ
Категория
Без категории
Просмотров
0
Размер файла
24 Кб
Теги
1/--страниц
Пожаловаться на содержимое документа