Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics, 7th Edition

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Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics, 7th Edition

Metabolic Disorders

Editore

Elsevier

Anno

2020

Pagine

790

ISBN

9780128125359

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Metabolic Disorders
Edited by Reed E. Pyeritz, William Smilow Professor of Medicine and Professor of Genetics, Senior Fellow, Leonard Davis Institute of Health Economics, Perelman School of Medicine, University of Pennsylvania, Smilow Center for Translational Research, Philadelphia, PA, USA; Bruce R. Korf, Chief Genomics Officer, UAB Medicine, Wayne H. and Sara Crews Finley Endowed Chair in Medical Genetics, University of Alabama at Birmingham, Birmingham, AL, USA and Wayne W. Grody, Professor, Divisions of Medical Genetics and Molecular Diagnostics, Departments of Path. and Lab. Medicine, Pediatrics, and Human Genetics, UCLA School of Medicine, UCLA Institute for Society and Genetics, Director, Molecular Diagnostic Laboratories and Clinical Genomics Center, UCLA Medical Center, Los Angeles, CA, USA

Features:

Wholly revised and up-to-date, this volume thoroughly addresses medical genetics and genomics as applied to metabolic disorders, with emphasis on understanding the genetic mechanisms underlying these disorders, diagnostic approaches, and treatment methods
Provides genetic researchers, students, and health professionals with up-to-date coverage on the genetic basis of a range of metabolic disorders, including body mass, amino acid, carbohydrate, iron, copper, lipo protein, and lipid metabolic disorders, as well as organic acidemias, fatty acid oxidation, and peroxisome disorders among others
Includes color images supporting identification, concept illustration, and method processing
Features contributions by leading international researchers and practitioners of medical genetics
A robust companion website offers lecture slides, image banks, and links to outside resources and articles to stay up-to-date on the latest developments in the field

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