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Inborn Errors of Metabolism Treatment & Management: Approach Considerations, Medical Care, Diet

Inborn Metabolic Diseases : Diagnosis and Treatment. Five years after its predecessor, the second edition of Inborn Metabolic Diseases: Diagnosis and Treatment is appearing in an almost completely revised form.

Underlying causes and patterns of inheritance

Its main feature is an even stronger emphasis on the clinical presentation of inborn errors of metabolism. For that reason, clinical approach has not only remained the central theme of the first chapter, but also become the starting point for all chapters dealing with either a single specific disorder or a group of diseases. Particular attention has been paid to clinical presentation under acute, subacute or chronic forms, to the appearance of initially aspecific symptoms evolving into a more characteristic syn drome at a later age, or vice versa, to clinical heterogeneity and its relation to genetic and biochemical heterogeneity.

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Brief reference to other diagnostic possibilities is also given in all disease-related chapters. Description of the metabolic derangements is restricted to the main pathophysiological features which provide the rationale for diagnosis and treatment. Methods to ascertain the diagnosis and diagnostic tests are listed comprehensively.

As in the first edition, treatment is discussed extensively. Details are given for dietary treatment and drug administrations in acute situations, during infections and in maintenance treatment. The impressive progress of knowledge with respect to genetic lesions in inborn errors of metabolism remains condensed to the essentials.


For more detailed information, particularly with respect to pathophysiology and genetics, we highly recommend the seventh edition of The Metabolic Basis of Inherited Disease, by Charles R. Scriver et al.

McGraw-Hill, Acute Symptoms in the Neonatal Period 4 cumb in the newborn period without having. Clinical Approach to Inherited Metabolic Diseases.

Every newborn must be screened for metabolic conditions

Chronic and Progressive General Symptoms 21 common accompaniment of metabolic. Emergency Treatments. Medicine Pediatrics.

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Inborn error of metabolism

FAQ Policy. About this book This work is recognised as the standard textbook for professionals involved in the diagnosis and management of inborn errors of metabolism IEM and an essential resource in this multidisciplinary field.

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Emergency Treatments Pages Schiff, Manuel et al. Hyperphenylalaninaemia Pages Burgard, Peter et al. Cystinosis Pages Niaudet, Patrick.