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

Editat de Nenad Blau, Marinus Duran, K. Michael Gibson, Carlo Dionisi Vici
en Limba Engleză Paperback – 22 aug 2016
This book, combining and updating two previous editions, is a unique source of information on the diagnosis, treatment, and follow-up of metabolic diseases. The clinical and laboratory data characteristic of rare metabolic conditions can be bewildering for both clinicians and laboratory personnel. Reference laboratory data are scattered, and clinical descriptions may be obscure. The Physician’s Guide documents the features of more than five hundred conditions, grouped according to type of disorder, organ system affected (e.g. liver, kidney, etc) or phenotype (e.g. neurological, hepatic, etc). Relevant clinical findings are provided and pathological values for diagnostic metabolites highlighted. Guidance on appropriate biochemical genetic testing is provided. Established experimental therapeutic protocols are described, with recommendations on follow-up and monitoring. The authors are acknowledged experts, and the book will be a valuable desk reference for all who deal with inherited metabolic diseases.
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Specificații

ISBN-13: 9783662506882
ISBN-10: 3662506882
Pagini: 912
Ilustrații: XLV, 867 p. 163 illus., 82 illus. in color.
Dimensiuni: 210 x 279 x 48 mm
Greutate: 2.34 kg
Ediția:Softcover reprint of the original 1st ed. 2014
Editura: Springer Berlin, Heidelberg
Colecția Springer
Locul publicării:Berlin, Heidelberg, Germany

Cuprins

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

Recenzii

From the book reviews:
“It is a unique source of information on the diagnosis, treatment, and follow-up of patients with inherited metabolic diseases. … much of the information is presented in tables which gives a good overview and makes the information easily readable. … the book supplies clinicians and clinical biochemists with data that should facilitate the diagnosis and treatment of patients with inherited metabolic diseases.” (Christian Staufner and Verena Peters, Journal of Inherited Metabolic Disease, Vol. 37, 2014)

Textul de pe ultima copertă

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.

Caracteristici

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