Epstein s Inborn Errors of Development Book [PDF] Download

• Publisher : Oxford University Press
• File Size : 23,9 Mb
• Release Date : 02 June 2024

Preceded by: Inborn errors of development / edited by Charles J. Epstein, Robert P. Erickson, Anthony Wynshaw-Boris. 2nd ed. 2008.

• Publisher : Oxford University Press, USA
• File Size : 43,5 Mb
• Release Date : 02 June 2024

In this book, the clinical chapters are organized into sections by defined developmental pathways or gene families, and each section is preceded by a general overview. For each disorder the

• Publisher : New York ; Montreal : McGraw-Hill
• File Size : 24,9 Mb
• Release Date : 02 June 2024

Presents clinical, biochemical, and genetic information concerning those metabolic anomalies grouped under inborn errors of metabolism.

• Publisher : Elsevier
• File Size : 42,9 Mb
• Release Date : 07 June 2017

Biomarkers of Inborn Errors in Metabolism: Clinical Aspects and Laboratory Determination is structured around the new reality that laboratory testing and biomarkers are an integral part in the diagnosis and

• Publisher : Springer Science & Business Media
• File Size : 44,5 Mb
• Release Date : 14 March 2013

Each disease-related chapter begins with a detailed description of the patient and the delineating symptoms used for establishing the diagnosis and differential diagnosis. The highly detailed figures illustrate the metabolic

• Publisher : Academic Press
• File Size : 53,8 Mb
• Release Date : 22 January 2021

Awareness among clinicians about PIDs, which consist of more than 400 different entities, plays an important role in ensuring that patients receive a timely diagnosis. Furthermore, clinicians who are educated about

• Publisher : Oxford Monographs on Medical G
• File Size : 54,5 Mb
• Release Date : 13 October 2014

This volume is an expansion on the known treatment model of IEMs, one that establishes an innovative pathway approach and provides a new authority on this family of disease. Alongside

• Publisher : Springer
• File Size : 52,8 Mb
• Release Date : 08 July 2014

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

• Publisher : Springer Science & Business Media
• File Size : 20,7 Mb
• Release Date : 06 December 2012

• Publisher : McGraw Hill Professional
• File Size : 51,7 Mb
• Release Date : 01 September 2012

Fast, crystal-clear guidance on managing both pediatric endocrine disorders and inborn errors of metabolism A Doody's Core Title for 2011! New England Journal of Medicine Review! "...an inspiring learning tool....Sarafoglou