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Chapter-032 Screening for Inborn Errors of Metabolism

BOOK TITLE: Advances in Pediatrics (2 Volumes)

Author
1. Bijarnia Sunita
2. Puri Ratna D
3. Verma JC
ISBN
9789350257777
DOI
10.5005/jp/books/11466_32
Edition
2/e
Publishing Year
2012
Pages
8
Author Affiliations
1. Sir Ganga Ram Hospital, New Delhi, Center of Medical Genetics, Sir Ganga Ram Hospital, New Delhi, India
2. Sir Ganga Ram Hospital, New Delhi, Sir Ganga Ram Hospital, New Delhi, India, Ganga Ram Institute of Postgraduate, Medical Education and Research (GRIPMER); Center of Medical Genetics, Sir Ganga Ram Hospital, New Delhi, India
3. Sir Ganga Ram Hospital, New Delhi, India
Chapter keywords
Inborn errors of metabolism, methyl malonic aciduria, maple syrup urine disease, citrullinemia type 1, Wilson and Menkes disease, homocystinuria, pyridoxine dependent seizures, xanthine-sulfite oxidase deficiency, Zellweger syndrome, long chain acyl-CoA dehydrogenase, niemann-pick disease, phenylketonuria, tandem mass spectometry, congenital hypothyroidism, toxoplasmosis

Abstract

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