Auswahl der wissenschaftlichen Literatur zum Thema „Metabolism, Inborn errors of“
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Zeitschriftenartikel zum Thema "Metabolism, Inborn errors of":
BURTON, BARBARA K. „Inborn Errors of Metabolism“. Pediatrics 80, Nr. 4 (01.10.1987): 600. http://dx.doi.org/10.1542/peds.80.4.600.
Levy, Paul A. „Inborn Errors of Metabolism“. Pediatrics In Review 30, Nr. 4 (01.04.2009): e22-e28. http://dx.doi.org/10.1542/pir.30.4.e22.
WISWELL, THOMAS E., und MARTIN E. WEISSE. „Inborn Errors of Metabolism“. Pediatrics 80, Nr. 4 (01.10.1987): 599–600. http://dx.doi.org/10.1542/peds.80.4.599.
Levy, Paul A. „Inborn Errors of Metabolism“. Pediatrics In Review 30, Nr. 4 (01.04.2009): 131–38. http://dx.doi.org/10.1542/pir.30.4.131.
Kiess, Wieland, Anna Kirstein und Skadi Beblo. „Inborn errors of metabolism“. Journal of Pediatric Endocrinology and Metabolism 33, Nr. 1 (28.01.2020): 1–3. http://dx.doi.org/10.1515/jpem-2019-0582.
Berry, Helen K. „Inborn Errors of Metabolism“. Endocrinologist 2, Nr. 4 (Juli 1992): 276–77. http://dx.doi.org/10.1097/00019616-199207000-00011.
Waber, Lewis. „Inborn Errors of Metabolism“. Pediatric Annals 19, Nr. 2 (01.02.1990): 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 und Lenir T. Montagner. „Inborn Errors of Metabolism“. Clinical Pediatrics 28, Nr. 11 (November 1989): 494–97. http://dx.doi.org/10.1177/000992288902801101.
Nyhan, William L., und Deborah L. Marsden. „Inborn errors of metabolism“. Current Opinion in Pediatrics 2, Nr. 4 (August 1990): 749–52. http://dx.doi.org/10.1097/00008480-199008000-00022.
Molleston, Jean P., und David H. Perlmutter. „Inborn errors of metabolism“. Current Opinion in Pediatrics 4, Nr. 5 (Oktober 1992): 798–804. http://dx.doi.org/10.1097/00008480-199210000-00012.
Dissertationen zum Thema "Metabolism, 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.
Black, Duncan Arthur. „Aspects of purine and pyrimidine metabolism“. Doctoral thesis, University of Cape Town, 1989. http://hdl.handle.net/11427/26590.
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.
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.
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.
Farah, Rita S. „Intragenic complementation in methylmalonyl CoA mutase“. Thesis, McGill University, 1994. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=55444.
Qureshi, Amber A. (Amber Ateef). „The molecular characterization of mutations at the methylmalonyl CoA mutase locus involved in interallelic complementation /“. Thesis, McGill University, 1993. http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=69686.
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.
Bücher zum Thema "Metabolism, Inborn errors of":
Jürgen, Schaub, Van Hoof François 1935-, Vis H. L, Nestlé Nutrition S. A und Nestlé Nutrition Workshop (24th : 1989 : Brussels, Belgium), Hrsg. Inborn errors of metabolism. New York: Raven Press, 1991.
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.
1921-, Fernandes J., Saudubray J. M. 1937- und Tada K. 1930-, Hrsg. Inborn metabolic diseases: Diagnosis and treatment. Berlin: Springer-Verlag, 1990.
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., Hrsg. The Inherited metabolic diseases. Edinburgh: Churchill Livingstone, 1987.
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.
Kari, Carol. Gaucher's disease: A nurse's handbook : Clinical Center. Bethesda, Md.?]: U.S. Department of Health and Human Services, Public Health Service, National Institutes of Health, Office of Clinical Reports and Inquiries, Clinical Center, 1986.
Walter, John, J. M. Saudubray und Georges Van den Berghe. Inborn metabolic diseases: Diagnosis and treatment. 5. Aufl. Berlin: Springer, 2012.
Buchteile zum Thema "Metabolism, 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 und 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 und 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 und 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.
Konferenzberichte zum Thema "Metabolism, 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.
James, S., A. Sheerin, L. Grabowsky, S. Senanayake, Z. Abidin, J. O’Byrne, E. Treacy und 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 und 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.
Stenzier, W., H. Ostermann, K. Ullrich und 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.
Santhanakrishnan, Arvind, Trent Nestle, Brian Moore, Ajit P. Yoganathan und 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.
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 und 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 und 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.