Search Results - "Kakkis, E.D."

Identification and molecular characterization of α‐L‐iduronidase mutations present in mucopolysaccharidosis type I patients undergoing enzyme replacement therapy by Yogalingam, G., Guo, X.‐H., Muller, V.J., Brooks, D.A., Clements, P.R., Kakkis, E.D., Hopwood, J.J.

“…Mucopolysaccharidosis type I (MPS I) is an autosomal recessive lysosomal storage disorder caused by a deficiency of α‐L‐iduronidase (IDUA). Mutations in the…”
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Continuous infusion of enzyme replacement therapy is inferior to weekly infusions in MPS I dogs by Passage, M. B., Krieger, A. W., Peinovich, M. C., Lester, T., Le, S. Q., Dickson, P. I., Kakkis, E. D.

“…Summary Intravenous enzyme replacement therapy with recombinant human α- l -iduronidase (rhIDU) is used weekly to treat mucopolysaccharidosis (MPS) I. We…”
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Enzyme Replacement Therapy in Feline Mucopolysaccharidosis I by Kakkis, E.D., Schuchman, E., He, X., Wan, Q., Kania, S., Wiemelt, S., Hasson, C.W., O'Malley, T., Weil, M.A., Aguirre, G.A., Brown, D.E., Haskins, M.E.

“…Enzyme replacement therapy (ERT) has long been considered an approach to treating lysosomal storage disorders caused by deficiency of lysosomal enzymes. ERT is…”
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Penetration, diffusion, and uptake of recombinant human α- l-iduronidase after intraventricular injection into the rat brain by Belichenko, P.V., Dickson, P.I., Passage, M., Jungles, S., Mobley, W.C., Kakkis, E.D.

“…Central nervous system disease can have devastating consequences in the severe or Hurler form of mucopolysaccharisosis I (MPS I). Intravenously administered…”
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Enzyme replacement in a canine model of Hurler syndrome by Shull, R.M. (University of Tennessee, Knoxville, TN.), Kakkis, E.D, McEntee, M.F, Kania, S.A, Jonas, A.J, Neufeld, E.F

“…The Hurler syndrome (alpha-L-iduronidase deficiency disease) is a severe lysosomal storage disorder that is potentially amenable to enzyme-replacement therapy…”
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Overexpression of the human lysosomal enzyme alpha-L-iduronidase in Chinese hamster ovary cells by Kakkis, E D, Matynia, A, Jonas, A J, Neufeld, E F

“…We developed a Chinese hamster ovary (CHO) cell line that produces and secretes large quantities of recombinant human alpha-L-iduronidase, the lysosomal…”
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