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855 results

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Page 1
Methylmalonic aciduria as a biochemical marker for mitochondrial DNA depletion syndrome in patients with developmental delay and movement disorders: a case series.
Almudhry M, Saini AG, Al-Omari MA, Sharma Y, Nouri MN, Rupar CA, Prasad C, Yu AC, Attri SV, Prasad AN. Almudhry M, et al. Among authors: prasad an, prasad c. Front Neurol. 2023 Nov 24;14:1265115. doi: 10.3389/fneur.2023.1265115. eCollection 2023. Front Neurol. 2023. PMID: 38073635 Free PMC article.
Neonatal hyperinsulinism-broadening the differential diagnosis.
Metivier E, Prasad M, Prasad C. Metivier E, et al. Among authors: prasad m, prasad c. Paediatr Child Health. 2022 Dec 16;28(2):67-68. doi: 10.1093/pch/pxac091. eCollection 2023 May. Paediatr Child Health. 2022. PMID: 37151925 Free PMC article. No abstract available.
Assessing the quality and value of metabolic chart data for capturing core outcomes for pediatric medium-chain acyl-CoA dehydrogenase (MCAD) deficiency.
Iverson R, Taljaard M, Geraghty MT, Pugliese M, Tingley K, Coyle D, Kronick JB, Wilson K, Austin V, Brunel-Guitton C, Buhas D, Butcher NJ, Chan AKJ, Dyack S, Goobie S, Greenberg CR, Jain-Ghai S, Inbar-Feigenberg M, Karp N, Kozenko M, Langley E, Lines M, Little J, MacKenzie J, Maranda B, Mercimek-Andrews S, Mhanni A, Mitchell JJ, Nagy L, Offringa M, Pender A, Potter M, Prasad C, Ratko S, Salvarinova R, Schulze A, Siriwardena K, Sondheimer N, Sparkes R, Stockler-Ipsiroglu S, Tapscott K, Trakadis Y, Turner L, Van Karnebeek C, Vandersteen A, Walia JS, Wilson BJ, Yu AC, Potter BK, Chakraborty P. Iverson R, et al. Among authors: prasad c. BMC Pediatr. 2024 Jan 13;24(1):37. doi: 10.1186/s12887-023-04393-4. BMC Pediatr. 2024. PMID: 38216926 Free PMC article.
Canadian guidance for diagnosis and management of acute hepatic porphyrias.
Francisco Idiaquez J, Khandelwal A, Nassar BA, Thoni AJ, Mann A, Prasad C, O'Brien A, Sholzberg M, Colantonio DA, Bril V. Francisco Idiaquez J, et al. Among authors: prasad c. Clin Biochem. 2024 Oct;131-132:110792. doi: 10.1016/j.clinbiochem.2024.110792. Epub 2024 Jul 9. Clin Biochem. 2024. PMID: 38992557 Free article. Review.
Clinical features, functional consequences, and rescue pharmacology of missense GRID1 and GRID2 human variants.
Allen JP, Garber KB, Perszyk R, Khayat CT, Kell SA, Kaneko M, Quindipan C, Saitta S, Ladda RL, Hewson S, Inbar-Feigenberg M, Prasad C, Prasad AN, Olewiler L, Mu W, Rosenthal LS, Scala M, Striano P, Zara F, McCullock TW, Jauss RT, Lemke JR, MacLean DM, Zhu C, Yuan H, Myers SJ, Traynelis SF. Allen JP, et al. Among authors: prasad an, prasad c. Hum Mol Genet. 2024 Feb 1;33(4):355-373. doi: 10.1093/hmg/ddad188. Hum Mol Genet. 2024. PMID: 37944084 Free PMC article.
855 results