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Medicine - Internal Medicine | Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases

Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases

Blau, N., Duran, M., Gibson, K.M., Dionisi-Vici, C. (Eds.)

2014, XLV, 867 p. 163 illus., 82 illus. in color.

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  • A unique source of reference information for both laboratory and clinical practice
  • Highlights clinical findings, age-related pathological values for diagnostic metabolites, and the role of biochemical genetic testing
  • Offers step-by-step algorithms for diagnosis
  • Outlines established and experimental therapies
  • Complements other major texts in the field

This book, combining and updating two previous editions, is a unique source of information on the diagnosis, treatment, and follow-up of patients with inherited metabolic diseases. The clinical and laboratory data characteristic of the ever-growing number of rare metabolic conditions can be bewildering for the general clinician. Reference laboratory data are scattered and clinical descriptions maybe obscure. The Physician’s Guide documents the features of more than five hundred conditions, grouped according to disorder category.  Relevant clinical findings are provided and pathological values for diagnostic metabolites are provided. Signs and symptoms are provided for each disorder from birth through adulthood. In addition, the role of biochemical genetic testing is outlined. Treatment protocols and experimental therapies are fully described, with guidance on follow-up and monitoring. The authors are acknowledged experts from across the world, and the book will be invaluable to all who deal with patients with inherited metabolic diseases, including pediatricians, internists, neurologists, and clinical geneticists, as well as clinical and biochemical geneticists.

Content Level » Professional/practitioner

Keywords » Biochemical genetics - Disorder - Inborn errors of metabolism - Laboratory medicine - Metabolism

Related subjects » Biomedical Sciences - Human Genetics - Internal Medicine - Pediatrics

Table of contents 

Introductory Chapters.- Amino acids.- Organic acids.- Vitamins and neurotransmitter.- Energy metabolism.- Organelles.- Selected disorder.- Biochemical phenotypes of questionable clinical significance.- Profiles.

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