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Publications

Krosschell, KJ, Kissel, JT, Townsend, EL, Simeone, SD, Zhang, RZ, Reyna, SP, Crawford, TO, Schroth, MK, Acsadi, G, Kishnani, PS, Von Kleist-Retzow, J-C, Hero, B, D'Anjou, G, Smith, EC, Elsheikh, B, Simard, LR, Prior, TW, Scott, CB, Lasalle, B, Sakonju, A, Wirth, B, Swoboda, KJ, and Project Cure SMA Investigator's Network, . "Clinical trial of L-Carnitine and valproic acid in spinal muscular atrophy type I." Muscle & nerve 57, no. 2 (February 2018): 193-199.

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Le, J, Poindexter, B, Sullivan, JE, Laughon, M, Delmore, P, Blackford, M, Yogev, R, James, LP, Melloni, C, Harper, B, Mitchell, J, Benjamin, DK, Boakye-Agyeman, F, and Cohen-Wolkowiez, M. "Comparative Analysis of Ampicillin Plasma and Dried Blood Spot Pharmacokinetics in Neonates." Therapeutic drug monitoring 40, no. 1 (February 2018): 103-108.

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Kwon, JM, Matern, D, Kurtzberg, J, Wrabetz, L, Gelb, MH, Wenger, DA, Ficicioglu, C, Waldman, AT, Burton, BK, Hopkins, PV, and Orsini, JJ. "Consensus guidelines for newborn screening, diagnosis and treatment of infantile Krabbe disease." Orphanet journal of rare diseases 13, no. 1 (February 2018): 30-. (Review)

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Koeberl, D, Case, L, Smith, EC, Li, Y, Walters, C, Hornik, C, Thurberg, B, Bali, D, Bursac, N, and Kishnani, PS. "Correction of biochemical abnormalities and gene expression associated with improved muscle function in a phase I/II clinical trial of clenbuterol in Pompe disease patients stably treated with ERT." February 2018.

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Koeberl, D, Case, L, Smith, EC, Li, Y, Walters, C, Hornik, C, Thurberg, B, Bali, D, Bursac, N, and Kishnani, PS. "Correction of biochemical abnormalities and gene expression associated with improved muscle function in a phase I/II clinical trial of clenbuterol in Pompe disease patients stably treated with ERT." February 2018.

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McCann, LJ, Pilkington, CA, Huber, AM, Ravelli, A, Appelbe, D, Kirkham, JJ, Williamson, PR, Aggarwal, A, Christopher-Stine, L, Constantin, T, Feldman, BM, Lundberg, I, Maillard, S, Mathiesen, P, Murphy, R, Pachman, LM, Reed, AM, Rider, LG, van Royen-Kerkof, A, Russo, R, Spinty, S, Wedderburn, LR, and Beresford, MW. "Development of a consensus core dataset in juvenile dermatomyositis for clinical use to inform research." Annals of the rheumatic diseases 77, no. 2 (February 2018): 241-250.

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Abdelnour, E, Gallentine, W, McDonald, M, Sachdev, M, Jiang, Y-H, and Mikati, MA. "Does age affect response to quinidine in patients with KCNT1 mutations? Report of three new cases and review of the literature." Seizure 55 (February 2018): 1-3. (Review)

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Testoni, D, Hornik, CP, Guinsburg, R, Clark, RH, Greenberg, RG, Benjamin, DK, and Smith, PB. "Early lumbar puncture and risk of intraventricular hemorrhage in very low birth weight infants." Early human development 117 (February 2018): 1-6.

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Matern, D, Gavrilov, D, Oglesbee, D, Raymond, K, Tortorelli, S, Hart, J, Mott, L, Kurtzberg, J, Prasad, V, and Rinaldo, P. "Efficient and effective newborn screening (NBS) for early infantile Krabbe diseases (KD)." February 2018.

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Langhan, ML, Emerson, BL, Nett, S, Pinto, M, Harwayne-Gidansky, I, Rehder, KJ, Krawiec, C, Meyer, K, Giuliano, JS, Owen, EB, Tarquinio, KM, Sanders, RC, Shepherd, M, Bysani, GK, Shenoi, AN, Napolitano, N, Gangadharan, S, Parsons, SJ, Simon, DW, Nadkarni, VM, Nishisaki, A, and for Pediatric Acute Lung Injury and Sepsis Investigators (PALISI) and National Emergency Airway Registry for Children (NEAR4KIDS) Investigators, . "End-Tidal Carbon Dioxide Use for Tracheal Intubation: Analysis From the National Emergency Airway Registry for Children (NEAR4KIDS) Registry." Pediatric critical care medicine : a journal of the Society of Critical Care Medicine and the World Federation of Pediatric Intensive and Critical Care Societies 19, no. 2 (February 2018): 98-105.

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