Casa Editrice:SPRINGER VERLAG
Autori : Saudubray Jean-Marie, Berghe Georges Van Den, Walt
Anno Edizione:2012
Numero Edizione:5
ISBN:9783642157196
Categoria:GENETICA
Numero Pagine:656
Rilegatura:Rilegato
Formato:25x31
Prezzo Copertina: € 171.35

 

Descrizione

Being up to date: Status Quo and Trends of Treatment
Standard textbook in this interdisciplinary field
Extensively revised and updated
Including errors affecting adults
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.

What´s new

- Additional chapter focusing on inborn errors affecting adults, particularly the late neurological presentations

- Numerous updates on diagnostic procedures and treatment

- 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.


Content Level » Professional/practitioner

Keywords » disorders of metabolism - inborn errors of metabolism - inherited metabolic diseases - metabolic diseases - neonatal screening - newborn screening

Related subjects » Human Genetics - Internal Medicine - Neurology - Pediatrics