Expanding the NGLY1 deficiency phenotype: Case report of an atypical patient
Nolan, D.K., Pastore, M.T., McBride, K.L.
Published in European journal of medical genetics (01.08.2022)
Published in European journal of medical genetics (01.08.2022)
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Phase 1/2 clinical trial of systemic gene transfer of scAAV9.U1a.hSGSH for MPS IIIA demonstrates 2 years of safety, tolerability, and biopotency
Flanigan, K.M., Simmons, T.R., McBride, K.L., Kunkler, K.L., Alyward, S., Couce, M.L., Oreiro, M.T., Smith, N.J.C., Jaensch, L., Fuller, M., Ruiz, J., Truxal, K.V.
Published in Molecular genetics and metabolism (01.02.2019)
Published in Molecular genetics and metabolism (01.02.2019)
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A prospective one-year natural history study of mucopolysaccharidosis types IIIA and IIIB: Implications for clinical trial design
Truxal, K.V., Fu, H., McCarty, D.M., McNally, K.A., Kunkler, K.L., Zumberge, N.A., Martin, L., Aylward, S.C., Alfano, L.N., Berry, K.M., Lowes, L.P., Corridore, M., McKee, C., McBride, K.L., Flanigan, K.M.
Published in Molecular genetics and metabolism (01.11.2016)
Published in Molecular genetics and metabolism (01.11.2016)
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A phase 1/2 clinical trial of systemic gene transfer of scAAV9.U1a.HSGSH for MPS IIIA: Safety, tolerability, and preliminary evidence of biopotency
Flanigan, K.M., Truxal, K.V., McBride, K.L., McNally, K.A., Kunkler, K.L., Zumberge, N.A., Martin, L., Aylward, S., Corridore, M., Ruiz, Juan, McKee, C., McCarty, D., Simmons, T.R.
Published in Molecular genetics and metabolism (01.02.2018)
Published in Molecular genetics and metabolism (01.02.2018)
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Single nucleotide polymorphisms in the dual specificity phosphatase genes and risk of necrotizing enterocolitis in premature infant
Talavera, M M, Jin, Y, Zmuda, E J, Frick, J, Liu, Y, McBride, K L, Nelin, L D, Trittmann, J K
Published in Journal of neonatal-perinatal medicine (2020)
Published in Journal of neonatal-perinatal medicine (2020)
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Refinement of the Region for Split Hand/Foot Malformation 5 on 2q31.1
Theisen, A., Rosenfeld, J.A., Shane, K., McBride, K.L., Atkin, J.F., Gaba, C., Hoo, J., Kurczynski, T.W., Schnur, R.E., Coffey, L.B., Zackai, E.H., Schimmenti, L., Friedman, N., Zabukovec, M., Ball, S., Pagon, R., Lucas, A., Brasington, C.K., Spence, J.E., Sparks, S., Banks, V., Smith, W., Friedberg, T., Wyatt, P.R., Aust, M., Tervo, R., Crowley, A., Skidmore, D., Lamb, A.N., Ravnan, B., Sahoo, T., Schultz, R., Torchia, B.S., Sgro, M., Chitayat, D., Shaffer, L.G.
Published in Molecular syndromology (01.05.2011)
Published in Molecular syndromology (01.05.2011)
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