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.
Jean-Marie Saudubray Boeken
