Inborn Metabolic Diseases: Diagnosis and Treatment

Inborn Metabolic Diseases: Diagnosis and Treatment
ISBN-10
3662031477
ISBN-13
9783662031476
Category
Medical
Pages
443
Language
English
Published
2013-03-14
Publisher
Springer Science & Business Media
Authors
John Fernandes, K. Tada, N.R.M. Buist

Description

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.

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