Search Results - "Wenger, A D"

Sphingomyelinase Deficiency (Niemann-Pick disease) in a Hereford Calf by Saunders, G.K, Wenger, D.A

“…A 5-month-old Hereford calf with neurologic disease was euthanatized, and a necropsy was done. No gross lesions were seen in the brain. Microscopically,…”
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Hematopoietic Stem-Cell Transplantation in Globoid-Cell Leukodystrophy by Krivit, William, Shapiro, Elsa G, Peters, Charles, Wagner, John E, Cornu, Guy, Kurtzberg, Joanne, Wenger, David A, Kolodny, Edwin H, Vanier, Marie T, Loes, Daniel J, Dusenbery, Kathryn, Lockman, Lawrence A

“…Globoid-cell leukodystrophy is an autosomal recessive disease due to greatly diminished or absent activity of the lysosomal enzyme galactocerebrosidase. 1 The…”
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Abnormal neuronal metabolism and storage in mucopolysaccharidosis type VI (Maroteaux-Lamy) disease by Walkley, S. U., Thrall, M. A., Haskins, M. E., Mitchell, T. W., Wenger, D. A., Brown, D. E., Dial, S., Seim, H.

“…Mucopolysaccharidosis (MPS) type VI, also known as Maroteaux–Lamy disease, is an inherited disorder of glycosaminoglycan  catabolism  caused  by  deficient …”
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Addressing multiple problems in the family practice office visit by Flocke, S A, Frank, S H, Wenger, D A

“…The purpose of the study was to describe the number of problems addressed during family practice outpatient visits, the nature of additional problems raised,…”
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GM2 Gangliosidosis in Shiba Inu Dogs with an In‐Frame Deletion in HEXB by Kolicheski, A., Johnson, G.S., Villani, N.A., O'Brien, D.P., Mhlanga‐Mutangadura, T., Wenger, D.A., Mikoloski, K., Eagleson, J.S., Taylor, J.F., Schnabel, R.D., Katz, M.L.

“…Consistent with a tentative diagnosis of neuronal ceroid lipofuscinosis (NCL), autofluorescent cytoplasmic storage bodies were found in neurons from the brains…”
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Engraftment following in utero bone marrow transplantation for globoid cell leukodystrophy by BAMBACH, B. J, MOSER, H. W, BLAKEMORE, K, CORSON, V. L, GRIFFIN, C. A, NOGA, S. J, PERLMAN, E. J, ZUCKERMAN, R, WENGER, D. A, JONES, R. J

“…To date, in utero bone marrow transplantation (BMT) has had limited success, largely because of poor donor engraftment. The poor engraftment is probably the…”
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Improved outcomes for hospitalized asthmatic children using a clinical pathway by Kelly, C S, Andersen, C L, Pestian, J P, Wenger, A D, Finch, A B, Strope, G L, Luckstead, E F

“…Although asthma clinical pathways are used with increasing frequency, few controlled studies have evaluated the clinical and cost effectiveness of these…”
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MR Imaging and Proton MR Spectroscopy in Adult Krabbe Disease by Farina, Laura, Bizzi, Alberto, Finocchiaro, Gaetano, Pareyson, Davide, Sghirlanzoni, Angelo, Bertagnolio, Barbara, and Savoiardo, Mario, Naidu, and SakkuBai, Singhal, Bhim S, Wenger, David A

“…We present the MR imaging findings in four patients (two pairs of siblings from two unrelated families) with adult Krabbe disease. In the first family,…”
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Effects of dietary cholesterol restriction in a feline model of Niemann–Pick type C disease by Somers, K. L., Brown, D. E., Fulton, R., Schultheiss, P. C., Hamar, D., Smith, M. O., Allison, R., Connally, H. E., Just, C., Mitchell, T. W., Wenger, D. A., Thrall, M. A.

“…A feline model of Niemann–Pick disease type C (NPC) was employed to evaluate the effect of dietary cholesterol restriction on progression of disease. Two…”
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Clinical course and biochemistry of sialuria by Enns, G. M., Seppala, R., Musci, T. J., Weisiger, K., Ferrell, L. D., Wenger, D. A., Gahl, W. A., Packman, S.

“…Sialuria is a rare inborn error of metabolism in which excessive free sialic acid (N‐acetylneuraminic acid, NeuAc) is synthesized. A defect in the feedback…”
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Retrovirus-Mediated Gene Transfer and Galactocerebrosidase Uptake into Twitcher Glial Cells Results in Appropriate Localization and Phenotype Correction by Luddi, A., Volterrani, M., Strazza, M., Smorlesi, A., Rafi, M.A., Datto, J., Wenger, D.A., Costantino-Ceccarini, E.

“…Galactocerebrosidase (GALC) is deficient in all tissues from human patients and animal models with globoid cell leukodystrophy (GLD) or Krabbe disease. The…”
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A defect in cholesterol esterification in Niemann-Pick disease (type C) patients by Pentchev, Peter G., Comly, Marcella E., Kruth, Howard S., Vanier, Marie T., Wenger, David A., Patel, Shutish, Brady, Roscoe O.

“…The demonstration of a defect of cholesterol esterification in a mutant strain of BALB/c mice with an attendant reduction of sphingomyelinase activity…”
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Sphingomyelin Lipidosis (Niemann–Pick Disease) in a Juvenile Raccoon (Procyon lotor) by Vapniarsky, N., Wenger, D.A., Scheenstra, D., Mete, A.

“…A wild caught juvenile male raccoon with neurological disease was humanely destroyed due to poor prognosis. Necropsy examination revealed hepatomegaly,…”
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Cloning and expression of cDNA encoding human galactocerebrosidase, the enzyme deficient in globoid cell leukodystrophy by Chen, Y Q, Rafi, M A, de Gala, G, Wenger, D A

“…Globoid cell leukodystrophy (Krabbe disease) is an autosomal recessive disorder resulting from the deficiency of galactocerebrosidase (GALC) activity. GALC is…”
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A large deletion together with a point mutation in the GALC gene is a common mutant allele in patients with infantile Krabbe disease by Rafi, M A, Luzi, P, Chen, Y Q, Wenger, D A

“…Galactocerebrosidase (GALC) activity is deficient in all patients with globoid cell leukodystrophy (GLD). While most patients have the severe infantile form of…”
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Characterization of the large deletion in the GALC gene found in patients with Krabbe disease by Luzi, P, Rafi, M A, Wenger, D A

“…Globoid cell leukodystrophy (GLD) of Krabbe disease results from mutations in the galactocerebrosidase (GALC) gene. Previously, we had identified a large…”
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Characterization of the Rhesus Monkey Galactocerebrosidase (GALC) cDNA and Gene and Identification of the Mutation Causing Globoid Cell Leukodystrophy (Krabbe Disease) in This Primate by Luzi, Paola, Rafi, Mohammad A., Victoria, Teresa, Baskin, Gary B., Wenger, David A.

“…Krabbe disease or globoid cell leukodystrophy (GLD) is a severe lysosomal disorder resulting from the deficiency of galactocerebrosidase (GALC) activity. This…”
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Multiple mutations in the GALC gene in a patient with adult-onset Krabbe disease by Luzi, P, Rafi, M A, Wenger, D A

“…A 53-year-old man was diagnosed 8 years earlier with globoid cell leukodystrophy (GLD, Krabbe disease) by his severe deficiency of galactocerebrosidase (GALC)…”
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Peripheral neuropathy with hypomyelinating features in adult-onset Krabbe's disease by Sabatelli, M, Quaranta, L, Madia, F, Lippi, G, Conte, A, Lo Monaco, M, Di Trapani, G, Rafi, M.A, Wenger, D.A, Vaccaro, A.M, Tonali, P

“…We describe three brothers suffering from Krabbe's disease with onset in the fifth decade. The proband showed a complete deficiency of leukocyte enzyme…”
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Investigating demyelination in the brain in a canine model of globoid cell leukodystrophy (Krabbe disease) using magnetization transfer contrast : Preliminary results by MCGOWAN, J. C, HASKINS, M, WENGER, D. A, VITE, C

“…This study was designed to examine the use of quantitative magnetization transfer imaging (MTI) in naturally occurring globoid cell leukodystrophy (GLD) in the…”
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