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Malate dehydrogenase 2 deficiency is an emerging cause of pediatric epileptic encephalopathy with a recognizable biochemical signature.
Priestley JRC, Pace LM, Sen K, Aggarwal A, Alves CAPF, Campbell IM, Cuddapah SR, Engelhardt NM, Eskandar M, Jolín García PC, Gropman A, Helbig I, Hong X, Gowda VK, Lusk L, Trapane P, Srinivasan VM, Suwannarat P, Ganetzky RD. Priestley JRC, et al. Among authors: srinivasan vm. Mol Genet Metab Rep. 2022 Nov 16;33:100931. doi: 10.1016/j.ymgmr.2022.100931. eCollection 2022 Dec. Mol Genet Metab Rep. 2022. PMID: 36420423 Free PMC article.
Mucolipidosis Type IV Due to Novel MCOLN1 Mutation.
Gowda VK, Srinivasan VM, Bhat M, Benakappa A. Gowda VK, et al. Among authors: srinivasan vm. Indian J Pediatr. 2017 Nov;84(11):871-872. doi: 10.1007/s12098-017-2401-6. Epub 2017 Jun 16. Indian J Pediatr. 2017. PMID: 28620732 No abstract available.
Biotin Thiamin Responsive Basal Ganglia Disease in Siblings.
Gowda VK, Srinivasan VM, Bhat M, Benakappa N. Gowda VK, et al. Among authors: srinivasan vm. Indian J Pediatr. 2018 Feb;85(2):155-157. doi: 10.1007/s12098-017-2471-5. Epub 2017 Nov 4. Indian J Pediatr. 2018. PMID: 29101630
A Case of Juvenile Alexander Disease Presenting as Microcephaly.
Gowda VK, Srinivasan VM, Jetha K, Bhat MD. Gowda VK, et al. Among authors: srinivasan vm. Indian J Pediatr. 2019 Apr;86(4):392-393. doi: 10.1007/s12098-018-02850-y. Epub 2019 Jan 10. Indian J Pediatr. 2019. PMID: 30628038 No abstract available.
381 results