Search Results - "CHARNAS, L"

Combination of enzyme replacement and hematopoietic stem cell transplantation as therapy for Hurler syndrome by Tolar, J, Grewal, S S, Bjoraker, K J, Whitley, C B, Shapiro, E G, Charnas, L, Orchard, P J

“…Hurler syndrome (mucopolysaccharidosis type I, MPS IH) is characterized by a deficiency of α- L -iduronidase resulting in progressive multiorgan dysfunction…”
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Long-term metabolic, endocrine, and neuropsychological outcome of hematopoietic cell transplantation for Wolman disease by Tolar, J, Petryk, A, Khan, K, Bjoraker, K J, Jessurun, J, Dolan, M, Kivisto, T, Charnas, L, Shapiro, E G, Orchard, P J

“…Wolman disease is the infantile form of autosomal recessive acid lipase deficiency, typically presenting in early infancy with diarrhea, massive…”
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N-acetyl-L-cysteine improves outcome of advanced cerebral adrenoleukodystrophy by TOLAR, J, ORCHARD, P. J, BJORAKER, K. J, ZIEGLER, R. S, SHAPIRO, E. G, CHARNAS, L

“…Hematopoietic stem cell transplantation as a treatment for childhood cerebral adrenoleukodystrophy (ALD) has historically only been successful in early…”
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Assessment of adrenoleukodystrophy lesions by high field MRS in non-sedated pediatric patients by TKAC, I, CHARNAS, L. R, CHOI, I. Y, BJORAKER, K. J, SHAPIRO, E. G, GRUETTER, R

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Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2 by Jabs, Ethylin Wang, Li, Xiang, Scott, Alan F, Meyers, Gregory, Chen, Wendy, Eccles, Michael, Mao, Jen-i, Charnas, Lawrence R, Jackson, Charles E, Jaye, Michael

“…Jackson-Weiss syndrome is an autosomal dominant condition characterized by craniosynostosis, foot anomalies and great phenotypic variability. Recently…”
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Continued neurocognitive development and prevention of cardiopulmonary complications after successful BMT for I-cell disease: a long-term follow-up report by GREWAL, S, SHAPIRO, E, BRAUNLIN, E, CHARNAS, L, KRIVIT, W, ORCHARD, P, PETERS, C

“…I-cell disease or mucolipidosis type II, a rare inherited storage disorder of lysosomal enzyme localization, is characterized by dysostosis multiplex,…”
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Reply to: Reduced intensity conditioning haematopoietic stem cell transplantation with mesenchymal stromal cells infusion for the treatment of metachromatic leukodystrophy: a case report. Haematologica 2008; 93:e11-13 by Charnas, L, Eichler, F, Kohlschuetter, A, Tolar, J, Orchard, P J

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Central pontine myelinolysis following bone marrow transplantation complicated by severe hepatic veno-occlusive disease by Fraser, C, Charnas, L, Orchard, P

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Assessment of adrenoleukodystrophy lesions by high field MRS in non-sedated pediatric patients by Oz, G, Tkác, I, Charnas, L R, Choi, I Y, Bjoraker, K J, Shapiro, E G, Gruetter, R

“…Early detection of white matter lesions in childhood-onset cerebral adrenoleukodystrophy (ALD) is important as hematopoietic cell transplantation (HCT),…”
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Structure-Based Design of β-Lactamase Inhibitors. 1. Synthesis and Evaluation of Bridged Monobactams by Heinze-Krauss, Ingrid, Angehrn, Peter, Charnas, Robert L, Gubernator, Klaus, Gutknecht, Eva-Maria, Hubschwerlen, Christian, Kania, Malgosia, Oefner, Christian, Page, Malcolm G. P, Sogabe, Satoshi, Specklin, Jean-Luc, Winkler, Fritz

“…Bridged monobactams are novel, potent, mechanism-based inhibitors of class C β-lactamases, designed using X-ray crystal structures of the enzymes. They…”
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Late occurrence of chronic immune-mediated axonal polyneuropathy following bone marrow transplant for juvenile-onset α-mannosidosis by MULROONEY, D. A, DAVIES, S. M, WALK, D, CHARNAS, L. R

“…A 23-year-old woman with juvenile-onset alpha-mannosidosis developed an axonal polyneuropathy more than a year following successful unrelated donor (URD) BMT…”
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Pulmonary arteriovenous malformations: techniques and long-term outcome of embolotherapy by White, Jr, R I, Lynch-Nyhan, A, Terry, P, Buescher, P C, Farmlett, E J, Charnas, L, Shuman, K, Kim, W, Kinnison, M, Mitchell, S E

“…Over a 10-year period, 276 pulmonary arteriovenous malformations (PAVMs) were occluded with balloon embolotherapy in 76 patients, 67 (88%) of whom had…”
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Refined crystal structure of β-lactamase from Citrobacter freundii indicates a mechanism for β-lactam hydrolysis by Oefner, C, D'Arcy, A, Daly, J. J, Gubernator, K, Charnas, R. L, Heinze, I, Hubschwerlen, C, Winkler, F. K

“…Beta-Lactamases (EC 3.5.2.6, 'penicillinases') are a family of enzymes that protect bacteria against the lethal effects of cell-wall synthesis of penicillins,…”
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99 Treatment of multiple sulfatase deficiency with recombinant human arylsulfatase B by Sandberg, Sherri, Charnas, L., Braunlin, E., Bjoraker, K., Deanching, M., Hoganson, G., Rimell, R., Whitley, C.

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Communicating hydrocephalus, basilar invagination, and other neurologic features in osteogenesis imperfecta by CHARNAS, L. R, MARINI, J. C

“…Osteogenesis imperfecta (OI) is anecdotally associated with macrocephaly, hydrocephalus, basilar invagination, and cerebral atrophy, but the frequency and the…”
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Identification and developmental expression of a novel low molecular weight neuronal intermediate filament protein expressed in Xenopus laevis by Charnas, LR, Szaro, BG, Gainer, H

“…Xenopus laevis is a valuable model system for the study of vertebrate neuroembryogenesis. However, very few well-characterized nervous system-specific…”
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Distal vacuolar myopathy in nephropathic cystinosis by Charnas, L R, Luciano, C A, Dalakas, M, Gilliatt, R W, Bernardini, I, Ishak, K, Cwik, V A, Fraker, D, Brushart, T A, Gahl, W A

“…Nephropathic cystinosis is a lysosomal storage disorder leading to renal failure by age 10 years. Prolonged patient survival following renal transplantation…”
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P.341A phase 2 randomized placebo-control trial of domagrozumab in boys with Duchenne muscular dystrophy (DMD) by Marraffino, S., Binks, M., Palmer, J., Sherlock, S., Purohit, V., Charnas, L.

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Nonsense mutations in the OCRL-1 gene in patients with the oculocerebrorenal syndrome of Lowe by Leahey, A M, Charnas, L R, Nussbaum, R L

“…A candidate gene, OCRL-1, for the oculocerebrorenal syndrome of Lowe (OCRL) has been identified via positional cloning strategies. We have now developed RT-PCR…”
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HEREDITARY NEUROPATHIES & ALS by Saade, D., Bharucha-Goebel, D., Zein, W., Norato, G., Rybin, D., Cheung, K., Charnas, L., Paredes, E., Inati, S., Foley, A., Gray, S., Bönnemann, C.

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