Comparison of Untargeted Metabolomic Profiling vs Traditional Metabolic Screening to Identify Inborn Errors of Metabolism-Reference-Cited by-同舟云学术

Comparison of Untargeted Metabolomic Profiling vs Traditional Metabolic Screening to Identify Inborn Errors of Metabolism

Published:2021-07-12 Issue:7 Volume:4 Page:e2114155
ISSN:2574-3805
Container-title:JAMA Network Open
language:en
Short-container-title:JAMA Netw Open

Author:

Liu Ning¹²,Xiao Jing¹,Gijavanekar Charul²,Pappan Kirk L.³⁴,Glinton Kevin E.¹,Shayota Brian J.¹⁵,Kennedy Adam D.³,Sun Qin¹²,Sutton V. Reid¹²,Elsea Sarah H.¹²

Affiliation:

1. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas

2. Baylor Genetics, Houston, Texas

3. Metabolon, Inc, Durham, North Carolina

4. Now with Owlstone Medical, Inc, Research Triangle Park, North Carolina

5. Now with Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City

Publisher

American Medical Association (AMA)

Subject

General Medicine

Link

https://jamanetwork.com/journals/jamanetworkopen/articlepdf/2781912/liu_2021_oi_210427_1625588213.76551.pdf

Reference39 articles.

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2. An introduction to pharmacotherapy for inborn errors of metabolism.;Harthan;J Pediatr Pharmacol Ther,2018

3. Inborn errors of metabolism overview: pathophysiology, manifestations, evaluation, and management.;Saudubray;Pediatr Clin North Am,2018

4. Inborn errors of metabolism around time of birth.;Leonard;Lancet,2000

5. The phenotype of adult versus pediatric patients with inborn errors of metabolism.;Saudubray;J Inherit Metab Dis,2018

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