JaypeeDigital | Inborn Errors of Metabolism and Newborn Screening

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Chapter-20 Inborn Errors of Metabolism and Newborn Screening

BOOK TITLE: Preventive Newborn Health and Care

Author

1. Enns Gregory M

ISBN

9789352704736

DOI

10.5005/jp/books/18439_21

Edition

1/e

Publishing Year

2021

Pages

Author Affiliations

1. Stanford University, Stanford, California, USA

Chapter keywords

Inborn error of metabolism, IEM, newborn screening, inheritance, sign, symptom, fatty acid oxidation disorder, glucose transporter, GLUT-1, liver disease, cardiomyopathy, hypotonia, hypoglycemia, clinical presentation, physical finding, basic laboratory investigation, management

Abstract

Abstract

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