Methylmalonic Acidemia – Matter Most Awaited!

Author:

Bijarnia-Mahay SunitaORCID

Publisher

Springer Science and Business Media LLC

Reference6 articles.

1. Ministry of Health & Family Welfare. National Policy for Rare Diseases 2021 [Internet]. Government of India; 2021. Available at: https://main.mohfw.gov.in/sites/default/files/Final%20NPRD%2C%202021.pdf. Accessed on 27 Mar 2024.

2. Gupta N, Endrakanti M, Bhat M, Rao N, Kaur R, Kabra M. Clinical and molecular spectrum of patients with methylmalonic acidemia. Indian J Pediatr. 2023. https://doi.org/10.1007/s12098-023-04651-4.

3. Shibata N, Hasegawa Y, Yamada K, et al. Diversity in the incidence and spectrum of organic acidemias, fatty acid oxidation disorders, and amino acid disorders in Asian countries: selective screening vs. expanded newborn screening. Mol Genet Metab Rep. 2018;16:5–10.

4. ICMR Task Force on Inherited Metabolic Disorders. High risk stratified neonatal screening. Indian J Pediatr. 2018;85:1050–4.

5. Manoli I, Sloan JL, Venditti CP. Isolated methylmalonic acidemia, 2005 Aug 16 [Updated 2022 Sep 8]. In: Adam MP, Feldman J, Mirzaa GM, et al., eds. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. Available at: https://www.ncbi.nlm.nih.gov/books/NBK1231/. Accessed on 27 Mar 2024.

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