Relevant bibliographies by topics / Canavan Disease

Contents

  1. Journal articles
  2. Dissertations / Theses
  3. Books
  4. Book chapters
  5. Conference papers
  6. Reports

Academic literature on the topic 'Canavan Disease'

Author: Grafiati
Published: 4 June 2021
Last updated: 30 January 2023

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Journal articles on the topic "Canavan Disease"

1

Matalon, Reuben, and Kimberlee Michals Matalon. "Canavan disease." Obstetrics and Gynecology Clinics of North America 29, no. 2 (June 2002): 297–304. http://dx.doi.org/10.1016/s0889-8545(01)00003-1.

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Baslow, Morris H., and Tracy R. Resnik. "Canavan disease." Journal of Molecular Neuroscience 9, no. 2 (October 1997): 109–25. http://dx.doi.org/10.1007/bf02736855.

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Matalon, Reuben. "Canavan disease." Molecular and Chemical Neuropathology 27, no. 1 (January 1996): 54–57. http://dx.doi.org/10.1007/bf02815040.

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Bakon, M., S. Strauss, I. Shental, and O. N. Elpeleg. "Cholelithiasis in Canavan disease." Journal of Ultrasound in Medicine 12, no. 6 (June 1993): 363–64. http://dx.doi.org/10.7863/jum.1993.12.6.363.

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Michel, Steven J., and Curtis A. Given. "Case 99: Canavan Disease." Radiology 241, no. 1 (October 2006): 310–24. http://dx.doi.org/10.1148/radiol.2411040165.

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Dirik, Mehmet Alp, Burcin Sanlidag, Eray Dirik, and Nail Bulakbasi. "Canavan Disease and Recent Advances." Cyprus Journal of Medical Sciences 6, no. 3 (November 1, 2021): 273–78. http://dx.doi.org/10.5152/cjms.2021.953.

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Schober, Harald, Juerg Luetschg, Isabella Hoeliner, Stefanie Kalb, and Burkhard Simma. "Canavan Disease: A Novel Mutation." Pediatric Neurology 45, no. 4 (October 2011): 256–58. http://dx.doi.org/10.1016/j.pediatrneurol.2011.06.011.

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Matalon, Reuben, and Kimberlee Michals-Matalon. "Molecular basis of Canavan disease." European Journal of Paediatric Neurology 2, no. 2 (January 1998): 69–76. http://dx.doi.org/10.1016/s1090-3798(98)80044-5.

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Janson, Christopher G., Mitra Assadi, Jeremy Francis, Larissa Bilaniuk, David Shera, and Paola Leone. "Lithium Citrate for Canavan Disease." Pediatric Neurology 33, no. 4 (October 2005): 235–43. http://dx.doi.org/10.1016/j.pediatrneurol.2005.04.015.

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Drera, B., and C. Poggiani. "Brain ultrasound in Canavan disease." Journal of Ultrasound 17, no. 3 (June 21, 2014): 215–17. http://dx.doi.org/10.1007/s40477-014-0108-3.

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Dissertations / Theses on the topic "Canavan Disease"

1

Gao, Guangping. "Molecular studies of Canavan Disease." FIU Digital Commons, 1994. https://digitalcommons.fiu.edu/etd/3624.

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Canavan disease (CD), an autosomal recessive leukodystrophy, is caused by the deficiency of aspartoacylase {ASPA}. The human ASPA cDNA spanning 1,435 bp has been isolated and characterized. The single uninterrupted ORF in the cDNA predicted a 313 amino acid long protein. The authenticity of the cDNA has been established by its expression in E. coli and Cosl-cells. Human ASPA gene was also cloned and found to span 29 kb of the human genome. Human ASPA is coded by 6 exons intervened by 5 introns. The exon/intron splice junction sites follow the 'gt'/'ag' consensus sequence rule. The human ASPA gene was assigned to the 17pl3-ter region. Human ASPA coding sequences were demonstrated to be conserved in yeast, chicken, rabbit, cow, dog, mouse, rat and monkey. Sixty-four probands (or 128 chromosomes) with CD were analyzed for mutations in the ASPA gene. Four point mutations have been identified in Canavan alleles. The 693OA and 914C>A base changes result in non-sense tyr231>ter and missense ala305>glu mutations respectively, that lead to complete loss of ASPA activity. The 854A>C transversion resulted in a glu285>ala missense mutation, and the mutant ASPA has 2.5% of the activity expressed by the wild type enzyme. The 433-2(A>G) transition at the splice acceptor site in intron 2 would lead to skipping of exon III, accompanied by a frameshift in the final ASPA transcript. Of the 128 unrelated Canavan chromosomes analyzed; 88 were from probands of Ashkenazi Jewish descent and 40 were from non-Jewish probands. The glu285>ala, tyr231>ter and 433-2(A>G) mutations account for 98.8% of the Canavan chromosomes of Ashkenazi Jewish origin. The ala305>glu mutation was found exclusively in non-Jewish probands and constituted 60% of the 40 mutant chromosomes. These results provide the basis for studying epidemiology of CD in at-risk populations; offer a DNA-based pre- and postnatal diagnosis of CD; provide the possibility to create an animal model of CD for understanding its pathophysiology and to develop strategies for possible enzyme and gene therapy.
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Wang, Qinzhe. "Developing Approaches to Treat Canavan Disease." University of Toledo / OhioLINK, 2017. http://rave.ohiolink.edu/etdc/view?acc_num=toledo1493301078219765.

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Hershfield, Jeremy Ray. "The molecular basis of canavan disease : aspartoacylase enzyme characteristics /." Download the dissertation in PDF, 2006. http://www.lrc.usuhs.mil/dissertations/pdf/Hershfield2006.pdf.

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Mersmann, Nadine [Verfasser]. "Gene therapy for a novel mouse model of Canavan disease / Nadine Mersmann." Mainz : Universitätsbibliothek Mainz, 2013. http://d-nb.info/1034282875/34.

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Wijayasinghe, Yasanandana Supunsiri. "Molecular Insights into N-acetylaspartate Metabolism in Canavan Disease." University of Toledo / OhioLINK, 2014. http://rave.ohiolink.edu/etdc/view?acc_num=toledo1411414289.

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Zano, Stephen Penalosa. "Therapeutic Approaches for the Treatment of Canavan Disease and Regulation of Bacterial Quorum Sensing Pathway." University of Toledo / OhioLINK, 2013. http://rave.ohiolink.edu/etdc/view?acc_num=toledo1373389172.

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Malik, Radhika. "I. Structural and functional characterization of tartrate dehydrogenase II. Characterization of proteins involved in Canavan disease." University of Toledo / OhioLINK, 2009. http://rave.ohiolink.edu/etdc/view?acc_num=toledo1260980899.

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Ahmed, Seemin Seher. "rAAV-Mediated Gene Transfer For Study of Pathological Mechanisms and Therapeutic Intervention in Canavan's Disease: A Dissertation." eScholarship@UMMS, 2014. https://escholarship.umassmed.edu/gsbs_diss/749.

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Canavan’s Disease is a fatal Central Nervous System disorder caused by genetic defects in the enzyme – aspartoacylase and currently has no effective treatment options. We report additional phenotypes in a stringent preclinical aspartoacylase knockout mouse model. Using this model, we developed a gene therapy strategy with intravenous injections of the aspartoacylase gene packaged in recombinant adeno associated viruses (rAAVs). We first investigated the CNS gene transfer abilities of rAAV vectors that can cross the blood-brain-barrier in neonatal and adult mice and subsequently used different rAAV serotypes such as rAAV9, rAAVrh.8 and rAAVrh.10 for gene replacement therapy. A single intravenous injection rescued lethality, extended survival and corrected several disease phenotypes including motor dysfunctions. For the first time we demonstrated the existence of a therapeutic time window in the mouse model. In order to limit off-target effects of viral delivery we employed a synthetic strategy using microRNA mediated posttranscriptional detargeting to restrict rAAV expression in the CNS. We followed up with another approach to limit peripheral tissue distribution. Strikingly, we demonstrate that intracerebroventricular administration of a 50-fold lower vectors dose can rescue lethality and extend survival but not motor functions. We also study the contributions of several peripheral tissues in a primarily CNS disorder and examine several molecular attributes behind pathogenesis of Canavan’s disease using primary neural cell cultures. In summary, this thesis describes the potential of novel rAAV-mediated gene replacement therapy in Canavan’s disease and the use of rAAVs as a tool to tease out its pathological mechanism.
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Ahmed, Seemin Seher. "rAAV-Mediated Gene Transfer For Study of Pathological Mechanisms and Therapeutic Intervention in Canavan's Disease: A Dissertation." eScholarship@UMMS, 2012. http://escholarship.umassmed.edu/gsbs_diss/749.

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Abstract:
Canavan’s Disease is a fatal Central Nervous System disorder caused by genetic defects in the enzyme – aspartoacylase and currently has no effective treatment options. We report additional phenotypes in a stringent preclinical aspartoacylase knockout mouse model. Using this model, we developed a gene therapy strategy with intravenous injections of the aspartoacylase gene packaged in recombinant adeno associated viruses (rAAVs). We first investigated the CNS gene transfer abilities of rAAV vectors that can cross the blood-brain-barrier in neonatal and adult mice and subsequently used different rAAV serotypes such as rAAV9, rAAVrh.8 and rAAVrh.10 for gene replacement therapy. A single intravenous injection rescued lethality, extended survival and corrected several disease phenotypes including motor dysfunctions. For the first time we demonstrated the existence of a therapeutic time window in the mouse model. In order to limit off-target effects of viral delivery we employed a synthetic strategy using microRNA mediated posttranscriptional detargeting to restrict rAAV expression in the CNS. We followed up with another approach to limit peripheral tissue distribution. Strikingly, we demonstrate that intracerebroventricular administration of a 50-fold lower vectors dose can rescue lethality and extend survival but not motor functions. We also study the contributions of several peripheral tissues in a primarily CNS disorder and examine several molecular attributes behind pathogenesis of Canavan’s disease using primary neural cell cultures. In summary, this thesis describes the potential of novel rAAV-mediated gene replacement therapy in Canavan’s disease and the use of rAAVs as a tool to tease out its pathological mechanism.
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McPhee, Scott William John. "Phenotypic characterisation of the tremor mutant and AAV mediated aspartoacylase gene transfer in the rat model of Canavan disease." Thesis, University of Auckland, 2004. http://wwwlib.umi.com/dissertations/fullcit/3136372.

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The doctoral studies described in this thesis involve the phenotypic characterization of the tremor rat, an animal model of Canavan disease, and a proof of principle gene transfer study in this model. The phenotype of the tremor rat is examined at the genetic, molecular, cellular, neurochemical, physical and behavioural levels, and tremor mutants are described within the context of Canavan disease. Tremor mutants appear to share many phenotypes with both human patients and to the knock-out mouse model. The deletion of aspartoacylase results in a total loss of the capacity to metabolize N-acetyl-aspartate to acetate and aspartate in brain, leading to elevations in brain N-acetyl-aspartate levels, changes in cell and tissue morphology, and physical and behavioural deficits including mild akinesia and loss of normal motor coordination and balance. Parallel to this work was the development of a gene transfer approach to treat Canavan disease, involving Adeno-associated virus mediated delivery of aspartoacylase to the mammalian central nervous system. Gene transfer was undertaken in tremor rat mutants, and analysis was made of gene expression and function as well as the effect of aspartoacylase expression on improving the phenotypic deficits observed in mutant animals. Gene expression was observed at the RNA and protein level, with recombinant protein observed in cell soma and processes. Although not significant the data suggested a trend of decreased NAA levels after aspartoacylase transfer in comparison to animals injected with a vector encoding green fluorescent protein. Improvement was noted in the rotorod phenotype with mutant animals receiving aspartoacylase gene transfer performing better at tests of balance and coordinated locomotion than animals receiving a control vector. The study provided evidence that Adeno-associated virus mediated aspartoacylase gene transfer to the brain improves some of the deficits in tremor mutants, and supports the rationale of human gene transfer for Canavan disease.
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Books on the topic "Canavan Disease"

1

Neurochemistry of metabolic diseases: Lysosomal storage diseases, phenylketonuria, and Canavan disease. New York: Nova Science Publishers, 2012.

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2

Canada, Canada Environment. Northern diseased bison. Hull, Quebec: Environment Canada, 1990.

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Spurgeon, David. Understanding AIDS: A Canadian strategy. Toronto, Ont., Canada: Key Porter Books, 1988.

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Canadian Association of Cardiac Rehabilitation. Canadian guidelines for cardiac rehabilitation and cardiovascular disease prevention. Winnipeg: The Association, 1999.

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Understanding AIDS: A Canadian strategy. Toronto: Key Porter Bks, 1988.

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Canada. Health and Welfare Canada. Notifiable Diseases Annual Summary. Ottawa: Minister of National Health and Welfare Canada, 1996.

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1950-, Rozovsky F. A., ed. AIDS and Canadian law. Toronto: Butterworths, 1992.

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Schiff, Myra. Alzheimer: A Canadian family resource guide. Toronto: McGraw-Hill Ryerson, 1989.

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Morck, Randall. Inherited wealth, corporate control and economic growth: The Canadian disease? Cambridge, MA: National Bureau of Economic Research, 1998.

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Canada. Natural Resources Canada. Canadian Forest Service. Forest insect and disease conditions in Canada, 1993. Ottawa: Natural Resources Canada., 1993.

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Book chapters on the topic "Canavan Disease"

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Peters, Nils, Martin Dichgans, Sankar Surendran, Josep M. Argilés, Francisco J. López-Soriano, Sílvia Busquets, Klaus Dittmann, et al. "Canavan-Van Bogaert-Bertrand Leukodystrophy." In Encyclopedia of Molecular Mechanisms of Disease, 266. Berlin, Heidelberg: Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_7386.

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Sass, Jörn Oliver, and Ina Knerr. "Aspartoacylase Deficiency (Canavan Disease, N-Acetylaspartic Aciduria)." In Human Pathobiochemistry, 15–21. Singapore: Springer Singapore, 2019. http://dx.doi.org/10.1007/978-981-13-2977-7_2.

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Matalon, R., R. Kaul, J. Casanova, K. Michals, A. Johnson, I. Rapin, P. Gashkoff, and M. Deanching. "Aspartoacylase Deficiency: The Enzyme Defect in Canavan Disease." In Studies in Inherited Metabolic Disease, 329–31. Dordrecht: Springer Netherlands, 1989. http://dx.doi.org/10.1007/978-94-009-1069-0_42.

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Agamanolis, Dimitri P. "Disorders of Amino Acid Metabolism and Canavan Disease." In Developmental Neuropathology, 403–15. Oxford, UK: John Wiley & Sons, Ltd, 2018. http://dx.doi.org/10.1002/9781119013112.ch33.

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Kumar, Shalini, Rasika Sowmyalakshmi, Sarah L. Daniels, Ruth Chang, Sankar Surendran, Reuben Matalon, and Jean de Vellis. "Does ASPA Gene Mutation in Canavan Disease Alter Oligodendrocyte Development?" In Advances in Experimental Medicine and Biology, 175–82. Boston, MA: Springer US, 2006. http://dx.doi.org/10.1007/0-387-30172-0_12.

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Valk, Jacob, and Marjo S. van der Knaap. "Canavan’s Disease." In Magnetic Resonance of Myelin, Myelination, and Myelin Disorders, 137–40. Berlin, Heidelberg: Springer Berlin Heidelberg, 1989. http://dx.doi.org/10.1007/978-3-662-02568-0_25.

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van der Knaap, Marjo S., and Jacob Valk. "Canavan’s Disease." In Magnetic Resonance of Myelin, Myelination, and Myelin Disorders, 216–19. Berlin, Heidelberg: Springer Berlin Heidelberg, 1995. http://dx.doi.org/10.1007/978-3-662-03078-3_36.

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McNamee, Jane, and D. R. Offord. "Suicide Prevention: A Canadian Perspective." In Preventing Disease, 137–49. New York, NY: Springer New York, 1990. http://dx.doi.org/10.1007/978-1-4612-3280-3_17.

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Feldman, William. "Unwanted Teenage Pregnancy: A Canadian Perspective." In Preventing Disease, 92–93. New York, NY: Springer New York, 1990. http://dx.doi.org/10.1007/978-1-4612-3280-3_11.

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Peters, Nils, Martin Dichgans, Sankar Surendran, Josep M. Argilés, Francisco J. López-Soriano, Sílvia Busquets, Klaus Dittmann, et al. "Canavan’s Disease: Aspartoacylase Defect." In Encyclopedia of Molecular Mechanisms of Disease, 265–66. Berlin, Heidelberg: Springer Berlin Heidelberg, 2009. http://dx.doi.org/10.1007/978-3-540-29676-8_273.

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Conference papers on the topic "Canavan Disease"

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Lau, Heather, Adam Shaywitz, Kathleen Kirby, Ilena Oppermann, John P. Balser, Florian Eichler, and Annette Bley. "The First Multi-Center, Multi-National Retrospective and Prospective Natural History Study of Canavan Disease." In Abstracts of the 45th Annual Meeting of the Society for Neuropediatrics. Georg Thieme Verlag KG, 2019. http://dx.doi.org/10.1055/s-0039-1698238.

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Tan, Wan C., Don D. Sin, Kenneth R. Chapman, J. Bourbeau, Paul Hernandez, Robert Cowie, and J. M. Fitzgerald. "Comparison Of GOLD Stage II And The Lower Limits Of Normal For Defining Chronic Obstructive Lung Disease In Canada- Results From The Canadian Obstructive Lung Disease (COLD) Study." In American Thoracic Society 2010 International Conference, May 14-19, 2010 • New Orleans. American Thoracic Society, 2010. http://dx.doi.org/10.1164/ajrccm-conference.2010.181.1_meetingabstracts.a4379.

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Ong, S. R., C. J. Ryerson, N. Khalil, K. A. M. Johannson, V. Marcoux, M. R. J. Kolb, H. Manganas, D. Assayag, and J. H. Fisher. "Fibrotic Interstitial Lung Disease Survival in a National Canadian Registry." In American Thoracic Society 2022 International Conference, May 13-18, 2022 - San Francisco, CA. American Thoracic Society, 2022. http://dx.doi.org/10.1164/ajrccm-conference.2022.205.1_meetingabstracts.a5092.

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Gupta, N., N. Gaudreault, S. Thériault, P. Z. Li, C. Henry, M. Kirby, F. Maltais, et al. "Alpha-1 Antitrypsin Deficiency and Chronic Obstructive Pulmonary Disease (COPD) Phenotypes in a Canadian Population: From the Canadian Obstructive Lung Disease (CanCOLD) Cohort Study." In American Thoracic Society 2020 International Conference, May 15-20, 2020 - Philadelphia, PA. American Thoracic Society, 2020. http://dx.doi.org/10.1164/ajrccm-conference.2020.201.1_meetingabstracts.a4568.

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Labrèche, France, Chaojie Song, Manisha Pahwa, Cheryl E. Peters, Victoria H. Arrandale, Chris B. McLeod, Hugh W. Davies, Jérôme Lavoué, Joanne Kim, and Paul A. Demers. "0379 Calculating the current burden of occupational cancers in canadian women." In Eliminating Occupational Disease: Translating Research into Action, EPICOH 2017, EPICOH 2017, 28–31 August 2017, Edinburgh, UK. BMJ Publishing Group Ltd, 2017. http://dx.doi.org/10.1136/oemed-2017-104636.312.

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Demers, Paul A., Jill MacLeod, Alice Peter, Saul Feinstein, Luis Palma Lazgare, and Chris McLeod. "0456 Initial results from a new canadian occupational disease surveillance system." In Eliminating Occupational Disease: Translating Research into Action, EPICOH 2017, EPICOH 2017, 28–31 August 2017, Edinburgh, UK. BMJ Publishing Group Ltd, 2017. http://dx.doi.org/10.1136/oemed-2017-104636.377.

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Tan, Wan C., J. Bourbeau, Paul Hernandez, Robert Cowie, Kenneth R. Chapman, J. M. Fitzgerald, and Don D. Sin. "The Impact Of Different Spirometric Definitions On The Population Prevalence Of Chronic Airflow Limitation In Canada-The Canadian Obstructive Lung Disease(COLD) Study." In American Thoracic Society 2010 International Conference, May 14-19, 2010 • New Orleans. American Thoracic Society, 2010. http://dx.doi.org/10.1164/ajrccm-conference.2010.181.1_meetingabstracts.a4116.

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Saleem, F., S. Vahidy, J. Fleetham, L. Pavan, C. Normandin, J. Guenette, Y. Khor, and C. Ryerson. "Domiciliary Oxygen Therapy for Interstitial Lung Disease and Chronic Obstructive Pulmonary Disease: A Canadian Provincial Cost Analysis." In American Thoracic Society 2020 International Conference, May 15-20, 2020 - Philadelphia, PA. American Thoracic Society, 2020. http://dx.doi.org/10.1164/ajrccm-conference.2020.201.1_meetingabstracts.a1514.

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Noorduyn, Stephen, Mena Soliman, Christina Qian, Karissa Johnston, and Erika Penz. "Exacerbations in chronic obstructive pulmonary disease (COPD) in Ontario, Canada." In ERS International Congress 2021 abstracts. European Respiratory Society, 2021. http://dx.doi.org/10.1183/13993003.congress-2021.oa4063.

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Weersink, Robert A. "Photodynamic therapy for periodontal disease." In Opto-Canada: SPIE Regional Meeting on Optoelectronics, Photonics, and Imaging, edited by John C. Armitage. SPIE, 2017. http://dx.doi.org/10.1117/12.2283905.

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Reports on the topic "Canavan Disease"

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Morck, Randall, David Stangeland, and Bernard Yeung. Inherited Wealth, Corporate Control and Economic Growth: The Canadian Disease. Cambridge, MA: National Bureau of Economic Research, November 1998. http://dx.doi.org/10.3386/w6814.

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Mueller, Daren, and Kiersten Wise. Corn Disease Loss Estimates From the United States and Ontario, Canada – 2013. United States: Crop Protection Netework, November 2016. http://dx.doi.org/10.31274/cpn-20190620-036.

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Mueller, Daren, Kiersten Wise, and Adam Sisson. Corn Disease Loss Estimates From the United States and Ontario, Canada — 2017. United States: Crop Protection Netework, July 2018. http://dx.doi.org/10.31274/cpn-20190620-040.

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Bradley, Carl. Soybean Disease Loss Estimates From the United States and Ontario, Canada — 2016. United States of America: Crop Protection Netework, July 2019. http://dx.doi.org/10.31274/cpn-20190729-000.

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Bradley, Carl. Soybean Disease Loss Estimates From the United States and Ontario, Canada — 2017. United States of America: Crop Protection Netework, July 2019. http://dx.doi.org/10.31274/cpn-20190729-001.

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Mueller, Daren, Kiersten Wise, and Adam Sisson. Corn Disease Loss Estimates From the United States and Ontario, Canada – 2018. United States: Crop Protection Netework, May 2020. http://dx.doi.org/10.31274/cpn-20200519-0.

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Bradley, Carl, Tom Allen, Albert Tenuta, Kelsey Mehl, and Adam Sisson. Soybean Disease Loss Estimates from the United States and Ontario, Canada — 2018. United States: Crop Protection Netework, September 2020. http://dx.doi.org/10.31274/cpn-20200922-0.

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Mueller, Daren, Kiersten Wise, and Adam Sisson. Corn Disease Loss Estimates from the United States and Ontario, Canada — 2019. United States: Crop Protection Netework, September 2020. http://dx.doi.org/10.31274/cpn-20200922-1.

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Mueller, Daren, Kiersten Wise, and Adam Sisson. Corn Disease Loss Estimates From the United States and Ontario, Canada — 2020. United States: Crop Protection Network, March 2021. http://dx.doi.org/10.31274/cpn-20210324-0.

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Bradley, Carl, Tom Allen, Albert Tenuta, Kelsey Mehl, and Adam Sisson. Soybean Disease Loss Estimates From the United States and Ontario, Canada — 2019. United States: Crop Protection Network, June 2021. http://dx.doi.org/10.31274/cpn-20210607-1.

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