John Fernandes

Jean-Marie Saudubray

Georges van den Berghe

This clinical book facilitates the diagnosis of metabolic diseases. Each disease-related chapter begins with a detailed description of the patient and the delineating symptoms necessary for establishing the diagnosis and differential diagnosis. The metabolic derangement is described in great detail and illustrated in a uniform way, thus affording clarification and better understanding of the treatment. The topics covered range from the clinical approach to metabolic diseases, emergency treatment, diagnostic procedures, and psychosocial care for the child and the family to specific discussions of new modes of treatment, including liver, bone marrow transplantation and somatic gene therapy.

Diagnosis and Treatment

Inborn Metabolic Diseases

Each disease-related chapter begins with a detailed description of the patient and the delineating symptoms used for establishing the diagnosis and differential diagnosis. The highly detailed figures illustrate the metabolic derangement in a uniform way, together with essential aspects of the genetics involved, thus affording clarification and better understanding of the treatment. Topics covered range from general aspects such as the clinical approach, emergency treatment, diagnostic procedures, and psychosocial care for the child and the family, to specific discussions of new modes of treatment, including liver, bone marrow transplantation and somatic gene therapy.

John H. Walter

This classical textbook has become indispensable for those in the front line dealing with metabolic disorders. The book is aimed at all those involved with this specialty including pediatricians, biochemists, dieticians, neurologists, internists, geneticists, psychologists, nurses, and social workers. This 4th edition has been thoroughly updated and revised. One new chapter on Neonatal screening by tandem MS/MS has been added and several new groups of disorders have been included. The book’s main feature is the strong emphasis on clinical presentation and treatment in acute and chronic situation.

Georges van den Berghe

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