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Response to: Letter to the Editor Regarding: The Expanding Phenotype of MELAS Caused by the m.3291 T > C tRNA Mutation E Kelland, C. A. Rupar, Asuri N. Prasad, K. Y. Tay, A. Downie and C. Prasad (1) by Josef Finsterer, MD, PhD [1], Sinda Zarrouk-Mahjoub, PhD [2] [1] Krankenanstalt Rudolfstiftung, Vienna [2] Genomics Platform, Pasteur Institute of Tunis, Tunisia.
Kelland E, Rupar CA, Prasad AN, Tay KY, Downie A, Prasad C. Kelland E, et al. Among authors: prasad an, prasad c. Mol Genet Metab Rep. 2016 Jul 15;8:41-2. doi: 10.1016/j.ymgmr.2016.07.002. eCollection 2016 Sep. Mol Genet Metab Rep. 2016. PMID: 27493879 Free PMC article. No abstract available.
Menkes disease and infantile epilepsy.
Prasad AN, Levin S, Rupar CA, Prasad C. Prasad AN, et al. Among authors: prasad c. Brain Dev. 2011 Nov;33(10):866-76. doi: 10.1016/j.braindev.2011.08.002. Epub 2011 Sep 16. Brain Dev. 2011. PMID: 21924848 Review.
Biotinidase deficiency: Spectrum of molecular, enzymatic and clinical information from newborn screening Ontario, Canada (2007-2014).
Gannavarapu S, Prasad C, DiRaimo J, Napier M, Goobie S, Potter M, Chakraborty P, Karaceper M, Munoz T, Schulze A, MacKenzie J, Li L, Geraghty MT, Al-Dirbashi OY, Rupar CA. Gannavarapu S, et al. Among authors: prasad c. Mol Genet Metab. 2015 Nov;116(3):146-51. doi: 10.1016/j.ymgme.2015.08.010. Epub 2015 Aug 31. Mol Genet Metab. 2015. PMID: 26361991
Pitfalls in Genetic Testing for Consanguineous Pediatric Populations.
Saleh M, Colaiacovo S, Napier MP, Prasad AN, Rupar CA, Prasad C. Saleh M, et al. Among authors: prasad an, prasad c. Case Rep Genet. 2022 May 25;2022:9393042. doi: 10.1155/2022/9393042. eCollection 2022. Case Rep Genet. 2022. PMID: 35663206 Free PMC article.
849 results