Добірка наукової літератури з теми "Inborn errors of"
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Статті в журналах з теми "Inborn errors of":
BURTON, BARBARA K. "Inborn Errors of Metabolism." Pediatrics 80, no. 4 (October 1, 1987): 600. http://dx.doi.org/10.1542/peds.80.4.600.
Levy, Paul A. "Inborn Errors of Metabolism." Pediatrics In Review 30, no. 4 (April 1, 2009): e22-e28. http://dx.doi.org/10.1542/pir.30.4.e22.
WISWELL, THOMAS E., and MARTIN E. WEISSE. "Inborn Errors of Metabolism." Pediatrics 80, no. 4 (October 1, 1987): 599–600. http://dx.doi.org/10.1542/peds.80.4.599.
Levy, Paul A. "Inborn Errors of Metabolism." Pediatrics In Review 30, no. 4 (April 1, 2009): 131–38. http://dx.doi.org/10.1542/pir.30.4.131.
Kiess, Wieland, Anna Kirstein, and Skadi Beblo. "Inborn errors of metabolism." Journal of Pediatric Endocrinology and Metabolism 33, no. 1 (January 28, 2020): 1–3. http://dx.doi.org/10.1515/jpem-2019-0582.
Berry, Helen K. "Inborn Errors of Metabolism." Endocrinologist 2, no. 4 (July 1992): 276–77. http://dx.doi.org/10.1097/00019616-199207000-00011.
Waber, Lewis. "Inborn Errors of Metabolism." Pediatric Annals 19, no. 2 (February 1, 1990): 105–18. http://dx.doi.org/10.3928/0090-4481-19900201-08.
Giugliani, Roberto, Carlos S. Dutra-Filho, Maria L. Barth, Janice C. Dutra, Moacir Wajner, Clovis M. D. Wannmacher, and Lenir T. Montagner. "Inborn Errors of Metabolism." Clinical Pediatrics 28, no. 11 (November 1989): 494–97. http://dx.doi.org/10.1177/000992288902801101.
Nyhan, William L., and Deborah L. Marsden. "Inborn errors of metabolism." Current Opinion in Pediatrics 2, no. 4 (August 1990): 749–52. http://dx.doi.org/10.1097/00008480-199008000-00022.
Molleston, Jean P., and David H. Perlmutter. "Inborn errors of metabolism." Current Opinion in Pediatrics 4, no. 5 (October 1992): 798–804. http://dx.doi.org/10.1097/00008480-199210000-00012.
Дисертації з теми "Inborn errors of":
Ristoff, Ellinor. "Inborn errors in the metabolism of glutathione /." Stockholm, 2002. http://diss.kib.ki.se/2002/91-7349-392-9/.
Pastore, Nunzia. "Gene therapy for inborn errors of metabolism." Thesis, Open University, 2013. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.590807.
Kocic, Vesna Garovic. "Methionine auxotrophy in inborn errors of cobalamin metabolism." Thesis, McGill University, 1992. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=56756.
Byck, Susan. "Cross-correctional studies in inborn errors of vitamin B12 metabolism." Thesis, McGill University, 1989. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=59259.
($ sp{14}$C) Propionate incorporation in both cblC and cblF cells exposed to conditioned medium from control cells was increased more than twofold. ($ sp{14}$C) methyltetrahydrofolate incorporation in cblC cells exposed to conditioned medium from cblF cells was increased twofold. This suggests the presence of a diffusible factor correcting the defect in the mutant cell lines.
Black, Duncan Arthur. "Aspects of purine and pyrimidine metabolism." Doctoral thesis, University of Cape Town, 1989. http://hdl.handle.net/11427/26590.
Moras, Emily. "Mitochondrial cobalamin binding proteins in patients with inborn errors of cobalamin metabolism." Thesis, McGill University, 2006. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=97972.
Yamani, Lama. "Studies on transcobalamin in cultured fibroblasts from patients with inborn errors of cobalamin metabolism." Thesis, McGill University, 2008. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=112320.
Lerner-Ellis, Jordan. "The molecular characterization of inborn errors of vitamin B₁₂ metabolism : cblA, cblB and cblC." Thesis, McGill University, 2006. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=111863.
Dolenga, Michael Peter. "Metabolic studies of prolidase deficiency in cultured human fibroblasts." Thesis, McGill University, 1991. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=61190.
The results presented here indicate that prolidase plays a major role in the recycling of dipeptide bound proline. Control fibroblasts were able to use iminodipeptides in lieu of proline to sustain normal growth and protein synthesis whereas prolidase deficient cells were not.
Iminodipeptides added to the media of control and mutant cells showed no adverse effects on protein synthesis or cell growth. These results are consistent with a mechanism of biochemical pathology in which proline deprivation caused by the enzyme deficit is the cause of damage to skin cells.
Prolidase regulation by product and substrate was studied. A two fold decrease of prolidase activity was observed in fibroblasts grown in excess proline. However, cells grown in medium in which iminodipeptides replaced proline showed no significant difference in prolidase activity.
Mandla, Suzan (Suzan G. ). "Studies on mammalian 25-hydroxyvitamin D3-24-hydroxylase." Thesis, McGill University, 1992. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=39363.
Книги з теми "Inborn errors of":
Jürgen, Schaub, Van Hoof François 1935-, Vis H. L, Nestlé Nutrition S. A, and Nestlé Nutrition Workshop (24th : 1989 : Brussels, Belgium), eds. Inborn errors of metabolism. New York: Raven Press, 1991.
1921-, Fernandes J., Saudubray J. M. 1937-, and Tada K. 1930-, eds. Inborn metabolic diseases: Diagnosis and treatment. Berlin: Springer-Verlag, 1990.
Houser, Christine M. Pediatric Genetics and Inborn Errors of Metabolism. New York, NY: Springer New York, 2014. http://dx.doi.org/10.1007/978-1-4939-0581-2.
Walter, John, J. M. Saudubray, and Georges Van den Berghe. Inborn metabolic diseases: Diagnosis and treatment. 5th ed. Berlin: Springer, 2012.
Benson, P. F. Genetic biochemical disorders. Oxford: Oxford University Press, 1986.
Benson, P. F. Genetic biochemical disorders. Oxford: Oxford University Press, 1985.
Benson, P. F. Genetic biochemical disorders. Oxford [Oxfordshire]: Oxford University Press, 1985.
B, Holton J., ed. The Inherited metabolic diseases. Edinburgh: Churchill Livingstone, 1987.
Salzer, Elisabeth. Identifying Novel Inborn Errors of the Immune System. Wiesbaden: Springer Fachmedien Wiesbaden, 2017. http://dx.doi.org/10.1007/978-3-658-16796-7.
Kari, Carol. Gaucher's disease: A nurse's handbook : Clinical Center. [Bethesda, Md.?]: U.S. Dept. of Health and Human Services, Public Health Service, National Institutes of Health, Office of Clinical Reports and Inquiries, Clinical Center, 1986.
Частини книг з теми "Inborn errors of":
Kamboj, Manmohan K. "Inborn Errors of Metabolism." In Neurodevelopmental Disabilities, 53–67. Dordrecht: Springer Netherlands, 2011. http://dx.doi.org/10.1007/978-94-007-0627-9_4.
Holzman, Robert S., Thomas J. Mancuso, Navil F. Sethna, and James A. DiNardo. "Inborn Errors of Metabolism." In Pediatric Anesthesiology Review, 377–86. New York, NY: Springer New York, 2010. http://dx.doi.org/10.1007/978-1-4419-1617-4_24.
Holzman, Robert S. "Inborn Errors of Metabolism." In Pediatric Anesthesiology Review, 607–20. Cham: Springer International Publishing, 2021. http://dx.doi.org/10.1007/978-3-030-60656-5_43.
Holzman, Robert S. "Inborn Errors of Metabolism." In Pediatric Anesthesiology Review, 435–45. Cham: Springer International Publishing, 2017. http://dx.doi.org/10.1007/978-3-319-48448-8_30.
Arnemann, J. "Inborn errors of metabolism." In Springer Reference Medizin, 1239–40. Berlin, Heidelberg: Springer Berlin Heidelberg, 2019. http://dx.doi.org/10.1007/978-3-662-48986-4_3508.
Arnemann, J. "Inborn errors of metabolism." In Lexikon der Medizinischen Laboratoriumsdiagnostik, 1. Berlin, Heidelberg: Springer Berlin Heidelberg, 2018. http://dx.doi.org/10.1007/978-3-662-49054-9_3508-1.
Goetsch, Allison L., Dana Kimelman, and Teresa K. Woodruff. "Inborn Errors of Metabolism." In Fertility Preservation and Restoration for Patients with Complex Medical Conditions, 113–39. Cham: Springer International Publishing, 2017. http://dx.doi.org/10.1007/978-3-319-52316-3_7.
Roesser, Jessica L. "Inborn Errors of Metabolism." In Encyclopedia of Autism Spectrum Disorders, 1–2. New York, NY: Springer New York, 2018. http://dx.doi.org/10.1007/978-1-4614-6435-8_27-3.
Burlina, Alberto, Andrea Celato, and Alessandro P. Burlina. "Inborn Errors of Metabolism." In Prognosis of Neurological Diseases, 217–47. Milano: Springer Milan, 2015. http://dx.doi.org/10.1007/978-88-470-5755-5_19.
Babineau, Shannon E. "Inborn Errors of Metabolism." In Mount Sinai Expert Guides, 326–39. Chichester, UK: John Wiley & Sons, Ltd, 2016. http://dx.doi.org/10.1002/9781118621042.ch29.
Тези доповідей конференцій з теми "Inborn errors of":
Fatouh, Mohamed. "597 Organization and provision of services for better management of inborn errors of metabolism." In Royal College of Paediatrics and Child Health, Abstracts of the RCPCH Conference, Liverpool, 28–30 June 2022. BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health, 2022. http://dx.doi.org/10.1136/archdischild-2022-rcpch.320.
Andrea, Largent, Kathi Lambert, Chiang Kristy, Shumlak Natali, Quan-Zhen Li, Kelly Hudkins, Denny Liggitt, et al. "203 Insights into lupus biology from inborn errors of immunity: immunopathogenesis of STAT1 gain-of- function autoimmunity." In LUPUS 21ST CENTURY 2022 CONFERENCE, Abstracts of Sixth Scientific Meeting of North American and European Lupus Community, Tucson, AZ, USA – September 20–23, 2022. Lupus Foundation of America, 2022. http://dx.doi.org/10.1136/lupus-2022-lupus21century.7.
Cunha, Daniela, Brenno Gonçalves, Tamiris Barros, and Andréa Silva. "A variant found in the RELA gene in a patient with autoinflammatory disease: Inborn Errors of Immunity?" In International Symposium on Immunobiologicals. Instituto de Tecnologia em Imunobiológicos, 2022. http://dx.doi.org/10.35259/isi.2022_52181.
Sampagar, Abhilasha, Sudeep Gaddam, and Anushree Cm. "1637 Spectrum of cases of inborn errors of immunity and their clinical and laboratory profile: a case series from a tertiary care hospital in South India." In Royal College of Paediatrics and Child Health, Abstracts of the RCPCH Conference–Online, 15 June 2021–17 June 2021. BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health, 2021. http://dx.doi.org/10.1136/archdischild-2021-rcpch.762.
Santhanakrishnan, Arvind, Trent Nestle, Brian Moore, Ajit P. Yoganathan, and Matthew L. Paden. "Characterization of a Low Extracorporeal Volume, High Accuracy Pediatric Continuous Renal Replacement Therapy Device." In ASME 2012 Summer Bioengineering Conference. American Society of Mechanical Engineers, 2012. http://dx.doi.org/10.1115/sbc2012-80210.
James, S., A. Sheerin, L. Grabowsky, S. Senanayake, Z. Abidin, J. O’Byrne, E. Treacy, and G. Pastores. "21 Cardiac investigations in adult inborn error of metabolism cohort." In Irish Cardiac Society Annual Scientific Meeting & AGM, Thursday October 17th – Saturday October 19th 2019, Galway, Ireland. BMJ Publishing Group Ltd and British Cardiovascular Society, 2019. http://dx.doi.org/10.1136/heartjnl-2019-ics.21.
Kutscherjawy, E., P. Hacke, K. Pauli, S. König, A. Tannous, and G. Tarusinov. "Tachyarrhythmia as a Primary Presentation in a Patient with Inborn Error of Metabolism—A Case Report." In The 54th Annual Meeting of the German Society for Pediatric Cardiology (DGPK). Georg Thieme Verlag KG, 2022. http://dx.doi.org/10.1055/s-0042-1742967.
Bons, Jeffrey P., Rory Blunt, and Steven Whitaker. "A Comparison of Techniques for Particle Rebound Measurement in Gas Turbine Applications." In ASME Turbo Expo 2015: Turbine Technical Conference and Exposition. American Society of Mechanical Engineers, 2015. http://dx.doi.org/10.1115/gt2015-43766.
Stenzier, W., H. Ostermann, K. Ullrich, and J. van de loo. "ALTERATIONS OF THE HAEMOSTATIC SYSTEM IN SEVEN PATIENTS WITH HOMOCYSTINURIA." In XIth International Congress on Thrombosis and Haemostasis. Schattauer GmbH, 1987. http://dx.doi.org/10.1055/s-0038-1643057.
Shinwari, Khyber, Guojun Liu, Mikhail A. Bolkov, Irina A. Tuzankina, and Valery A. Chereshnev. "Gene expression and pathway analysis in patients with inborn error of TLRs and IL-IRs signaling using microarray data." In ACTUAL PROBLEMS OF ORGANIC CHEMISTRY AND BIOTECHNOLOGY (OCBT2020): Proceedings of the International Scientific Conference. AIP Publishing, 2022. http://dx.doi.org/10.1063/5.0068994.
Звіти організацій з теми "Inborn errors of":
Tao, Yang, Victor Alchanatis, and Yud-Ren Chen. X-ray and stereo imaging method for sensitive detection of bone fragments and hazardous materials in de-boned poultry fillets. United States Department of Agriculture, January 2006. http://dx.doi.org/10.32747/2006.7695872.bard.