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Physician's guide to the diagnosis, treatment, and follow-up of inherited metabolic diseases

Record Type:	Electronic resources : Monograph/item
Title/Author:	Physician's guide to the diagnosis, treatment, and follow-up of inherited metabolic diseasesedited by Nenad Blau ... [et al.].
other author:	Blau, Nenad.
Published:	Cham :Springer International Publishing :2022.
Description:	xxxi, 1534 p. :ill., digital ;24 cm.
Contained By:	Springer Nature eBook
Subject:	Metabolism, Inborn errors ofDiagnosis.
Online resource:	https://doi.org/10.1007/978-3-030-67727-5
ISBN:	9783030677275$q(electronic bk.)

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[electronic resource] /edited by Nenad Blau ... [et al.]. - Second edition. - Cham :Springer International Publishing :2022. - xxxi, 1534 p. :ill., digital ;24 cm.

This updated and enlarged second edition 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 clinicians and laboratory personnel alike - reference laboratory data is scattered, and clinical descriptions can be obscure. The new Physician's Guide with the additional more than 600 diseases now featured, documents 1200 conditions grouped according to type of disorder, organ system affected (e.g. liver, kidney, etc) or phenotype (e.g. neurological, hepatic, etc) It includes relevant clinical findings and highlights the pathological values for diagnostic metabolites. Guidance on appropriate biochemical genetic testing is also provided and established experimental therapeutic protocols are described, with recommendations on follow-up and monitoring. The authors are acknowledged experts, and the book is a valuable desk reference for all who deal with inherited metabolic diseases.

ISBN: 9783030677275$q(electronic bk.)

Standard No.: 10.1007/978-3-030-67727-5doiSubjects--Topical Terms:

456229
Metabolism, Inborn errors of
--Diagnosis.

LC Class. No.: RC627.8 / .P49 2022

Dewey Class. No.: 616.39042

Physician's guide to the diagnosis, treatment, and follow-up of inherited metabolic diseases
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300 $a xxxi, 1534 p. : $b ill., digital ; $c 24 cm.
520 $a This updated and enlarged second edition 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 clinicians and laboratory personnel alike - reference laboratory data is scattered, and clinical descriptions can be obscure. The new Physician's Guide with the additional more than 600 diseases now featured, documents 1200 conditions grouped according to type of disorder, organ system affected (e.g. liver, kidney, etc) or phenotype (e.g. neurological, hepatic, etc) It includes relevant clinical findings and highlights the pathological values for diagnostic metabolites. Guidance on appropriate biochemical genetic testing is also provided and established experimental therapeutic protocols are described, with recommendations on follow-up and monitoring. The authors are acknowledged experts, and the book is a valuable desk reference for all who deal with inherited metabolic diseases.
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