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