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Inborn Metabolic Diseases

Inborn Metabolic Diseases

Diagnosis and Treatment

Ed. by John Fernandes, Jean-Marie Saudubray and Georges van den Berghe
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The diagnosis of metabolic diseases is facilitated by this clinical book. 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 figures illustrate the metabolic derangement in a uniform way, thus affording clarification and better understanding of the treatment. The metabolic derangement is described in great detail, together with essential aspects of the genetics involved. The topics covered range from general aspects such as the clinical approach to metabolic disease...