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Year | Number of Results |
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2015 | 1 |
2016 | 1 |
2020 | 1 |
2022 | 2 |
2023 | 2 |
2024 | 0 |
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Page 1
Biochemical characterization of patients with dihydrolipoamide dehydrogenase deficiency.
JIMD Rep. 2023 Aug 4;64(5):367-374. doi: 10.1002/jmd2.12382. eCollection 2023 Sep.
JIMD Rep. 2023.
PMID: 37701333
Free PMC article.
Clinical Effectiveness of Telemedicine-Based Pediatric Genetics Care.
Szigety KM, Crowley TB, Gaiser KB, Chen EY, Priestley JRC, Williams LS, Rangu SA, Wright CM, Adusumalli P, Ahrens-Nicklas RC, Calderon B, Cuddapah SR, Edmondson A, Ficicioglu C, Ganetzky R, Kalish JM, Krantz ID, McDonald-McGinn DM, Medne L, Muraresku C, Pyle LC, Zackai EH, Campbell IM, Sheppard SE.
Szigety KM, et al. Among authors: cuddapah sr.
Pediatrics. 2022 Jul 1;150(1):e2021054520. doi: 10.1542/peds.2021-054520.
Pediatrics. 2022.
PMID: 35642503
Free PMC article.
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Newborn Screening for Pompe Disease: Pennsylvania Experience.
Ficicioglu C, Ahrens-Nicklas RC, Barch J, Cuddapah SR, DiBoscio BS, DiPerna JC, Gordon PL, Henderson N, Menello C, Luongo N, Ortiz D, Xiao R.
Ficicioglu C, et al. Among authors: cuddapah sr.
Int J Neonatal Screen. 2020 Nov 13;6(4):89. doi: 10.3390/ijns6040089.
Int J Neonatal Screen. 2020.
PMID: 33202836
Free PMC article.
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IRF6 Sequencing in Interrupted Clefting.
Cuddapah SR, Kominek S, Grant JH 3rd, Robin NH.
Cuddapah SR, et al.
Cleft Palate Craniofac J. 2016 May;53(3):373-6. doi: 10.1597/14-204. Epub 2015 Jun 19.
Cleft Palate Craniofac J. 2016.
PMID: 26090788
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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: cuddapah sr.
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.
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2-Methylglutaconic acid as a biomarker in routine urine organic acids leading to the diagnosis of glutaric acidemia type I in a low excretor.
Wongkittichote P, Hong X, Master SR, Kaur S, Cuddapah SR, He M.
Wongkittichote P, et al. Among authors: cuddapah sr.
Mol Genet Metab. 2023 Apr;138(4):107549. doi: 10.1016/j.ymgme.2023.107549. Epub 2023 Feb 23.
Mol Genet Metab. 2023.
PMID: 36913764
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