Inborn Metabolic Diseases: Diagnosis And Treatment
by Jean-Marie Saudubray /
2011 / English / PDF
6.9 MB Download
Being up to Date: Status Quo and Trends of Treatment
Being up to Date: Status Quo and Trends of Treatment
For those involved in the identification and management of
patients with inborn errors of metabolism, this book is now
recognised as the standard textbook in this interdisciplinary
field. It has proved to be indispensable for professionals in
specialities ranging from pediatrics, neonatology, pathological
biochemistry and genetics to neurology, internal medicine,
nursing, dietetics and psychology. This 5th edition has been
extensively revised and updated.
For those involved in the identification and management of
patients with inborn errors of metabolism, this book is now
recognised as the standard textbook in this interdisciplinary
field. It has proved to be indispensable for professionals in
specialities ranging from pediatrics, neonatology, pathological
biochemistry and genetics to neurology, internal medicine,
nursing, dietetics and psychology. This 5th edition has been
extensively revised and updated.What´s new
What´s new
-
Additional chapter focusing on inborn errors affecting adults,
particularly the late neurological presentations
-
Additional chapter focusing on inborn errors affecting adults,
particularly the late neurological presentations
- Numerous
updates on diagnostic procedures and treatment
- Numerous
updates on diagnostic procedures and treatment
- Newly
discovered disorders.
- Newly
discovered disorders.
As with previous editions, the book opens with a section
presenting the clinical approach to inborn metabolic diseases for
those cases in which a diagnosis is being sought. This now
includes a chapter on the clinical presentation of metabolic
diseases in the older age range, using an analogous structure. If
a particular diagnosis is already suspected, the reader may refer
to the following sections of the book containing general chapters
on diagnostic procedures and treatment, and on specific groups of
disorders. As with earlier editions, the chapters have been
written by authors who are internationally recognised experts on
their subjects. They provide information in a clear, relevant and
concise manner using a coherent structure.
As with previous editions, the book opens with a section
presenting the clinical approach to inborn metabolic diseases for
those cases in which a diagnosis is being sought. This now
includes a chapter on the clinical presentation of metabolic
diseases in the older age range, using an analogous structure. If
a particular diagnosis is already suspected, the reader may refer
to the following sections of the book containing general chapters
on diagnostic procedures and treatment, and on specific groups of
disorders. As with earlier editions, the chapters have been
written by authors who are internationally recognised experts on
their subjects. They provide information in a clear, relevant and
concise manner using a coherent structure.
