Scientific Library of Tomsk State University

   E-catalog        

Image from Google Jackets
Normal view MARC view

Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases electronic resource edited by Nenad Blau, Marinus Duran, K Michael Gibson, Carlo Dionisi Vici.

Contributor(s): Blau, Nenad [editor.] | Duran, Marinus [editor.] | Gibson, K Michael [editor.] | Dionisi Vici, Carlo [editor.] | SpringerLink (Online service)Material type: TextTextPublication details: Berlin, Heidelberg : Springer Berlin Heidelberg : Imprint: Springer, 2014Description: XLV, 867 p. 163 illus., 82 illus. in color. online resourceContent type: text Media type: computer Carrier type: online resourceISBN: 9783642403378Subject(s): medicine | Human genetics | Medical laboratories | Metabolic diseases | Biochemistry | Pediatrics | Medicine & Public Health | Metabolic Diseases | Medical Biochemistry | Pediatrics | Laboratory Medicine | Human GeneticsDDC classification: 616.39 LOC classification: RC627.5-632Online resources: Click here to access online
Contents:
Introductory Chapters -- Amino acids -- Organic acids -- Vitamins and neurotransmitter -- Energy metabolism -- Organelles -- Selected disorder -- Biochemical phenotypes of questionable clinical significance -- Profiles.
In: Springer eBooksSummary: 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.
Tags from this library: No tags from this library for this title. Log in to add tags.
No physical items for this record

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

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.

There are no comments on this title.

to post a comment.