Inborn metabolic diseases diagnosis and treatment written by saudubray van den berghe and walter is a 656 page book internationally recognized experts on their subjects contributed to the 5th edition the content of the book is diagnosis and treatment general principles disorders of carbohydrate metabolism. Request pdf on researchgate inborn metabolic diseases diagnosis and treatment this classical textbook has become indispensable for those in the front line dealing with metabolic disorders as . Inborn errors of metabolism iem is the term for a large and diverse group of genetic diseases each specific disease is quite raremany of these conditions are very serious and may even be life threatening. Five years after its predecessor the second edition of inborn metabolic diseases diagnosis and treatment is appearing in an almost completely revised form its main feature is an even stronger emphasis on the clinical presentation of inborn errors of metabolism for that reason clinical approach has not only remained the central theme of the first chapter but also become the starting point . Inborn metabolic diseases is an excellent clinical guide and reference to this complex subject it will be highly valuable to anyone who cares for patients with metabolic diseases or for whom such diseases are regularly in the differential diagnosis daniel kenney neurology april 2013
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