Metabolic 28 4-2013
2014 BDSRA Hofmann Enzyme Replacement Therapy (ERT)
approach to in born errors of metabolism.ppt
1 A multi-species comparative structural bioinformatics analysis of inherited mutations in -D-Mannosidase reveals strong genotype-phenotype correlation.
Javed Mohammed Khan and Shoba Ranganathan
Recognize IEM in a neonate with non- specific signs and symptoms Make use of simple lab tests in the diagnosis of IEM Initial management of life.
