Review
doi: 10.1016/j.cll.2012.04.006.Inborn errors of metabolism and their status in India
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- PMID:22727004
- DOI: 10.1016/j.cll.2012.04.006
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Review
Inborn errors of metabolism and their status in India
Alpa J Dherai. Clin Lab Med.2012 Jun.
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Abstract
Inborn errors of metabolism (IEM) have a characteristic clinical presentation overlapping with infection and intoxication. Diagnostic modalities for IEM vary from biochemical to molecular methods including next-generation sequencing. Therapeutic options including substrate restriction, enzyme replacement, chaperone administration, and organ transplant are promising for management of patients with IEM. Prenatal diagnosis and newborn screening help to reduce the societal burden as well as the morbidity due to IEM. IEM occur in India, and the need of the time is to have large diagnostic and screening programs to dilute the gene pool.
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