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Inborn Errors of MetabolismFrom Neonatal Screening to Metabolic Pathways

Inborn Errors of Metabolism: From Neonatal Screening to Metabolic Pathways  

Brendan Lee and Fernando Scaglia (eds)

Print Publication Year: 
Oct 2014
Series: 
Oxford Monographs on Medical Genetics
Published Online: 
Mar 2015
eISBN: 
9780199398508
DOI: 
10.1093/med/9780199797585.001.0001
Career: 
Doctor, Qualified, early specialism training, Qualified, late specialism training, Researcher
Specialty: 
Clinical Medicine, Clinical Genetics
Item type: 
book
ISBN: 
9780199797585
Works on inborn errors of metabolism (IEMs) have traditionally focused on classical biochemistry, clinical presentation, and standard treatment approaches. Inborn Errors of Metabolism is an ... More
Inherited Metabolic Disease in AdultsA Clinical Guide

Inherited Metabolic Disease in Adults: A Clinical Guide  

Carla E. M. Hollak and Robin Lachmann (eds)

Print Publication Year: 
Jul 2016
Series: 
Oxford Monographs on Medical Genetics
Published Online: 
Sep 2016
eISBN: 
9780190463083
DOI: 
10.1093/med/9780199972135.001.0001
Career: 
Allied Health Professional, Researcher
Specialty: 
Clinical Medicine, Clinical Genetics
Item type: 
book
ISBN: 
9780199972135
As clinical management of inherited metabolic diseases (IMDs) has improved, more patients affected by these conditions are surviving into adulthood. This trend, coupled with the widespread ... More

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