Search Results - "Muenzer, J"

The nature and impact of neurobehavioral symptoms in neuronopathic Hunter syndrome by Eisengart, J.B., King, K.E., Shapiro, E.G., Whitley, C.B., Muenzer, J.

“…In neuronopathic Hunter syndrome, neurobehavioral symptoms are known to be serious but have been incompletely described. While families face significant stress…”
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Mannitol-facilitated CNS entry of rAAV2 vector significantly delayed the neurological disease progression in MPS IIIB mice by McCarty, D M, DiRosario, J, Gulaid, K, Muenzer, J, Fu, H

“…The presence of the blood–brain barrier (BBB) presents the most critical challenge in therapeutic development for mucopolysaccharidosis (MPS) IIIB, a lysosomal…”
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The tandem mass spectrometry newborn screening experience in North Carolina: 1997–2005 by Frazier, D. M., Millington, D. S., McCandless, S. E., Koeberl, D. D., Weavil, S. D., Chaing, S. H., Muenzer, J.

“…Summary North Carolina (NC) was the first US state to initiate universal tandem mass spectrometry (MS/MS) newborn screening. This began as a statewide pilot…”
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Significantly increased lifespan and improved behavioral performances by rAAV gene delivery in adult mucopolysaccharidosis IIIB mice by FU, H, KANG, L, JENNINGS, J. S, MOY, S. S, PEREZ, A, DIROSARIO, J, MCCARTY, D. M, MUENZER, J

“…Mucopolysaccharidosis (MPS) IIIB is an inherited lysosomal storage disease, caused by the deficiency of alpha-N-acetylglucosaminidase (NaGlu), resulting in…”
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characterization of a murine model of mucopolysaccharidosis II (Hunter syndrome) by Garcia, A. R, Pan, J, Lamsa, J. C, Muenzer, J

“…Mucopolysaccharidosis II (MPS II, Hunter syndrome in humans) is an X-linked inherited lysosomal storage disease caused by a deficiency in the lysosomal enzyme…”
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Response to: Investigating the neurobehavioral symptoms of neuronopathic Hunter syndrome by Eisengart, J.B., King, K.E., Shapiro, E., Whitley, C.B., Muenzer, J.

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Correlation of automated volumetric analysis of brain MR imaging with cognitive impairment in a natural history study of mucopolysaccharidosis II by Fan, Zheng, Styner, M, Muenzer, J, Poe, M, Escolar, M

“…Reliable markers for predicting neurologic outcome in patients with MPS II are lacking. The purpose of this study is to explore whether quantitative volumetric…”
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Overview of the mucopolysaccharidoses by Muenzer, Joseph

“…The mucopolysaccharidoses (MPSs) are a group of rare, inherited lysosomal storage disorders that are clinically characterized by abnormalities in multiple…”
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Enzyme replacement therapy in mucopolysaccharidosis type II (Hunter syndrome): a preliminary report by Muenzer, J, Lamsa, JC, Garcia, A, Dacosta, J, Garcia, J, Treco, DA

“…Mucopolysaccharidosis type II (MPS II; Hunter syndrome) is an X‐linked disease caused by a deficiency of the enzyme iduronate‐2‐sulphatase (IDS), which results…”
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High Dose Vancomycin Loading Versus Low Dose is Associated With Decreased Nephrotoxicity In Emergency Department Sepsis Patients by Rosini, J.M, Davis, J.J, Muenzer, J, Levine, B.J, Comer, D, Arnold, R

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PSY33 Item Reduction and Assessment of Measurement Properties of the Hunter Syndrome – Functional Outcomes for Clinical Understanding Scale (HS-FOCUS) by Wiklund, I, Raluy, M, Chen, W.H, Muenzer, J, Pelletier, N, Fang, J, Whiteman, D.A.H

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The mucopolysaccharidoses: a heterogeneous group of disorders with variable pediatric presentations by Muenzer, Joseph

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Evaluation of 3‐methylcrotonyl‐CoA carboxylase deficiency detected by tandem mass spectrometry newborn screening by Koeberl, D. D., Millington, D. S., Smith, W. E., Weavil, S. D., Muenzer, J., McCandless, S. E., Kishnani, P. S., McDonald, M. T., Chaing, S., Boney, A., Moore, E., Frazier, D. M.

“…Since the addition of tandem mass spectrometry (MS/MS) to the North Carolina Newborn Screening Program, 20 infants with two consecutive elevated…”
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29 Clinical benefit of enzyme replacement therapy (ERT) in mucopolysaccharidosis II (MPS II, Hunter syndrome) by Eng, Christine, Muenzer, J., Wraith, E., Beck, M., Giugliani, R., Harmatz, P., Vellodi, A., Martin, R., Ramaswami, U., Calikoglu, M., Vijayaraghavan, S., Puga, A., Ulbrich, B., Shinawi, M., Cleary, M., Wendt, S.

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39 Formation of a Lysosomal Disease Testing Network to enhance the delivery of diagnostic services to patients with lysosomal storage disorders by Eng, Christine, Muenzer, J., Wraith, E., Beck, M., Giugliani, R., Harmatz, P., Vellodi, A., Martin, R., Ramaswami, U., Calikoglu, M., Vijayaraghavan, S., Puga, A., Ulbrich, B., Shinawi, M., Cleary, M., Wendt, S.

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A Phase III Extension Study of Aldurazyme®(Laronidase) in Mucopolysaccharidosis I by Clarke, L.A., MD, Wraith, J.E, Beck, M., MD, Kolodny, E.H., MD, Pastores, G.M, Muenzer, J

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Frequent alteration of CDKN2 (p16(INK4A)/MTS1) expression in human primary prostate carcinomas by Chi, S G, deVere White, R W, Muenzer, J T, Gumerlock, P H

“…CDKN2 (p16(INK4A)/MTS1) is found to be mutated in a variety of human tumor types. To explore the involvement of CDKN2 in prostate carcinogenesis, alterations…”
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p53‐independent response of a human breast carcinoma xenograft to radioimmunotherapy by Winthrop, Michelle D., DeNardo, Sally J., Muenzer, Jared T., Chi, Sung‐Gil, Gumerlock, Paul H.

“…BACKGROUND Radiation‐induced DNA damage resulting in p53 protein attachment and downstream gene activation has been considered a major mechanism for tumor…”
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Long-term, open-labeled extension study of idursulfase in the treatment of Hunter syndrome by Muenzer, Joseph, Beck, Michael, Eng, Christine M., Giugliani, Roberto, Harmatz, Paul, Martin, Rick, Ramaswami, Uma, Vellodi, Ashok, Wraith, James E., Cleary, Maureen, Gucsavas-Calikoglu, Muge, Puga, Ana Cristina, Shinawi, Marwan, Ulbrich, Birgit, Vijayaraghavan, Suresh, Wendt, Susanne, Conway, Anne Marie, Rossi, Alexandra, Whiteman, David A.H., Kimura, Alan

“…This study evaluated the safety and effectiveness of long-term enzyme replacement therapy with idursulfase (recombinant human iduronate-2-sulfatase) in…”
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BCL2 antisense transcripts decrease intracellular Bcl2 expression and sensitize LNCaP prostate cancer cells to apoptosis-inducing agents by Shi, X B, Gumerlock, P H, Muenzer, J T, deVere White, R W

“…Prostate cancer (CaP) is the most commonly diagnosed cancer of aging men and the second leading cause of male cancer death in the United States. At present, no…”
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