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Chapter-14.5 Genetic Metabolic Disorders

BOOK TITLE: IAP Textbook of Pediatrics

Author

1. Phadke Shubha R

ISBN

9789350259450

DOI

10.5005/jp/books/11894_58

Edition

5/e

Publishing Year

2013

Pages

Author Affiliations

1. Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India; Society for Indian Academy of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences Lucknow, Uttar Pradesh, India, Sanjay Gandhi Postgraduate Institute of Medical Genetics, Lucknow, Uttar Pradesh, India

Chapter keywords

genetic metabolic disorders, inborn errors of metabolism, Lesch Nyhan syndrome, Zellweger syndrome, Enzyme replacement therapy, X chromosome, mucopolysaccharidosis type II

Abstract

Abstract

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