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Chapter-15 Screening and Diagnosis of Inborn Errors of Metabolism

BOOK TITLE: Principles and Practice of Fetal Medicine

Author
1. Dave Usha P
ISBN
9789385999697
DOI
10.5005/jp/books/18326_16
Edition
1/e
Publishing Year
2017
Pages
13
Author Affiliations
1. MILS International India; Haffkine Institute; BJ Wadia Maternity Hospital, PG Research Guide of Mumbai University, Mumbai, Maharashtra, India
Chapter keywords
Screening, diagnosis, inborn error of metabolism, IEM, phenylketonuria, phenotype-genotype expression, environmental factor, classification, urea cycle disorder, clinical manifestation, physical examination, diagnostic investigation

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