Tertiary Pediatric Academic Institution's Experience with Intraoperative Neuromonitoring for Nonspinal Surgery in Children with Mucopolysaccharidosis, Based on a Novel Evidence-Based Care Algorithm.
Kandil, AI; Pettit, CS; Berry, LN; Busso, VO; Careskey, M; Chesnut, E; Buck, DW; Leslie, ND; Tamai, J; McAuliffe, JJ; et al.
Anesthesia and Analgesia.
2020;
130:1678-1684.
Clinical characteristics and genotypes in the ADVANCE baseline data set, a comprehensive cohort of US children and adolescents with Pompe disease.
Kishnani, PS; Gibson, JB; Gambello, MJ; Hillman, R; Stockton, DW; Kronn, D; Leslie, ND; Pena, LD M; Tanpaiboon, P; Day, JW; et al.
Genetics in Medicine.
2019;
21:2543-2551.
GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry.
Reuser, AJ J; van der Ploeg, AT; Chien, YH; Llerena, J; Abbott, MA; Clemens, PR; Kimonis, VE; Leslie, N; Maruti, SS; Sanson, BJ; et al.
Human Mutation.
2019;
40:2146-2164.
Expanding and Underscoring the Hepato-Encephalopathic Phenotype of QIL1/MIC13.
Russell, BE; Whaley, KG; Bove, KE; Labilloy, A; Lombardo, RC; Hopkin, RJ; Leslie, ND; Prada, C; Assouline, Z; Barcia, G; et al.
Hepatology.
2019;
70:1066-1070.
Acquired ornithine transcarbamylase deficiency in pediatric and adolescent patients with fibrolamellar hepatocellular carcinoma.
Bartlett, AL; Leslie, ND; Gupta, A; Geller, JI.
Pediatric Blood and Cancer.
2018;
65:e27392-e27392.
Efficacy, safety profile, and immunogenicity of alglucosidase alfa produced at the 4,000-liter scale in US children and adolescents with Pompe disease: ADVANCE, a phase IV, open-label, prospective study.
Hahn, SH; Kronn, D; Leslie, ND; Pena, LD M; Tanpaiboon, P; Gambello, MJ; Gibson, JB; Hillman, R; Stockton, DW; Day, JW; et al.
Genetics in Medicine.
2018;
20:1284-1294.
Ethical considerations related to return of results from genomic medicine projects: The eMERGE network (phase III) experience.
Fossey, R; Kochan, D; Winkler, E; Pacyna, JE; Olson, J; Thibodeau, S; Connolly, JJ; Harr, M; Behr, MA; Prows, CA; et al.
Journal of Personalized Medicine.
2018;
8:2-2.
Mucopolysaccharidosis Type I Newborn Screening: Best Practices for Diagnosis and Management.
Clarke, LA; Atherton, AM; Burton, BK; Day-Salvatore, DL; Kaplan, P; Leslie, ND; Scott, CR; Stockton, DW; Thomas, JA; Muenzer, J.
The Journal of Pediatrics.
2017;
182:363-370.
Inborn Errors of Metabolism Collaborative: Large-scale collection of data on long-term follow-up for newborn-screened conditions.
Berry, SA; Leslie, ND; Edick, MJ; Hiner, S; Justice, K; Cameron, C.
Genetics in Medicine.
2016;
18:1276-1281.
Bilateral cataracts in a 6-yr-old with new onset diabetes: a novel presentation of a known INS gene mutation.
Wasserman, H; Hufnagel, RB; Utz, VM; Zhang, K; Valencia, CA; Leslie, ND; Crimmins, NA.
Pediatric Diabetes.
2016;
17:535-539.