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Review Article

Inborn error of metabolism screening in neonates

Preeti Sharma, Shivani Gupta, Pradeep Kumar, Rachna Sharma, Mahapatra T K, Gaurav Gupta.

Inborn errors of metabolism belong to heterogeneous group of disorders which cause a number of morbidities and mortality in pediatric population and come under the class of genetic rare diseases. With the advent of newer molecular tools and techniques, so for several hundreds of disorders have been defined after the first description by Garrod in the 20th century. Early and timely diagnosis of the disease may prevent the life of a patient, but there are many reasons persist, restricting the timely diagnosis of the disease.

Key words: Metabolic Disorders; Neonatal Disorders; Metabolic Errors

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