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Littérature scientifique sur le sujet « Inborn Errors »

Auteur : Grafiati
Publié le 4 juin 2021
Mis à jour le 26 juillet 2025

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Articles de revues sur le sujet "Inborn Errors"

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BURTON, BARBARA K. "Inborn Errors of Metabolism." Pediatrics 80, no. 4 (1987): 600. http://dx.doi.org/10.1542/peds.80.4.600.

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In Reply.— I thank Drs Wiswell and Weisse for their interesting observations regarding the occurrence of intracranial hemorrhage in term infants with inborn errors of metabolism. There is no question that intracranial hemorrhage is a potentially devastating, although presumably uncommon, complication of these disorders. In my personal experience, neonates with inborn errors of metabolism who have experienced intracranial hemorrhages have all had obvious predisposing factors, such as severe metabolic acidosis, which would provide a clue to the underlying diagnosis.
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Levy, Paul A. "Inborn Errors of Metabolism." Pediatrics In Review 30, no. 4 (2009): e22-e28. http://dx.doi.org/10.1542/pir.30.4.e22.

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WISWELL, THOMAS E., and MARTIN E. WEISSE. "Inborn Errors of Metabolism." Pediatrics 80, no. 4 (1987): 599–600. http://dx.doi.org/10.1542/peds.80.4.599.

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To the Editor.— We read with great interest the review by Dr Burton on inborn errors of metabolism.1 These myriad disorders frequently present with clinical manifestations that are associated with a variety of more common neonatal diseases. Dr Burton is to be commended for presenting a lucid, rational approach for the diagnosis of these oft-confusing afflictions. However, there is another manifestation of these disorders, not previously recognized in the pediatric literature, that we wish to address.
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Levy, Paul A. "Inborn Errors of Metabolism." Pediatrics In Review 30, no. 4 (2009): 131–38. http://dx.doi.org/10.1542/pir.30.4.131.

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Kiess, Wieland, Anna Kirstein, and Skadi Beblo. "Inborn errors of metabolism." Journal of Pediatric Endocrinology and Metabolism 33, no. 1 (2020): 1–3. http://dx.doi.org/10.1515/jpem-2019-0582.

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Berry, Helen K. "Inborn Errors of Metabolism." Endocrinologist 2, no. 4 (1992): 276–77. http://dx.doi.org/10.1097/00019616-199207000-00011.

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Waber, Lewis. "Inborn Errors of Metabolism." Pediatric Annals 19, no. 2 (1990): 105–18. http://dx.doi.org/10.3928/0090-4481-19900201-08.

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Giugliani, Roberto, Carlos S. Dutra-Filho, Maria L. Barth, et al. "Inborn Errors of Metabolism." Clinical Pediatrics 28, no. 11 (1989): 494–97. http://dx.doi.org/10.1177/000992288902801101.

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Baloh, Carolyn H., and Hey Chong. "Inborn Errors of Immunity." Medical Clinics of North America 108, no. 4 (2024): 703–18. http://dx.doi.org/10.1016/j.mcna.2023.08.006.

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Houston, Stephanie A. "Learning from inborn errors." Nature Immunology 25, no. 10 (2024): 1771. http://dx.doi.org/10.1038/s41590-024-01981-z.

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Thèses sur le sujet "Inborn Errors"

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Ristoff, Ellinor. "Inborn errors in the metabolism of glutathione /." Stockholm, 2002. http://diss.kib.ki.se/2002/91-7349-392-9/.

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Pastore, Nunzia. "Gene therapy for inborn errors of metabolism." Thesis, Open University, 2013. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.590807.

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Inborn errors of liver metabolism are frequent causes of morbidity and mortality especially in children. For several of these diseases, treatment approaches depend on ,manipulation of the affected metabolic pathway by diet, drugs, vitamin cofactors, enzyme induction, end-product replacement, and alternative pathway activation. Unfortunately, these approaches often remain unsatisfactory especially in the face of illness or catabolism. Ideally, transfer of the normal genes in the liver cells that are defective might restore the metabolic function. The goal of my PhD thesis was to develop gene-ba
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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.

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Several of the inborn errors of vitamin B$ sb{12}$ (cobalamin, Cbl) metabolism (cblC, cblD, cblE, cblF, cblG) are associated with homocystinuria and hypomethioninemia due to a functional deficiency of the cytoplasmic enzyme methionine synthase which requires methylcobalamin (MeCbl) as a cofactor. We compared the growth of cultured fibroblasts from controls with those from patients with a selective deficiency of MeCbl (cblE and cblG) and with those from patients with a defect in both MeCbl and adenosylcobalamin (AdoCbl) (cblC, cblD and cblF). Cells were grown in methionine and folic acid free m
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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.

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Human skin fibroblasts derived from patients with all 7 known inborn errors of vitamin B$ sb{12}$ metabolism have been studied for functional integrity of methylmalonyl CoA mutase and methionine synthase. Cocultivation of cblC and cblF fibroblasts in the absence of polyethylene glycol resulted in a twofold increase over the expected in both ($ sp{14}$C) propionate and ($ sp{14}$C) methyltetrahydrofolate incorporation into acid-precipitable material, suggesting that metabolic cooperation between cells occurs. CblD fibroblasts, which are biochemically similar to cblC cells (Goodman et al, 1970;
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Black, Duncan Arthur. "Aspects of purine and pyrimidine metabolism." Doctoral thesis, University of Cape Town, 1989. http://hdl.handle.net/11427/26590.

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In Chapter 1 a review of the literature concerning aspects of erythrocyte membrane transport and metabolism, and purine and pyrimidine metabolism is presented. The effects of pH, pO₂ and inorganic phosphate (Pi) on the uptake and metabolism of hypoxanthine by erythrocytes has been studied in Chapter 2. Uptake of hypoxanthine and accumulation of inosine 5'-monophosphate (IMP) were markedly increased at acid pH, high external phosphate concentrations, and low pO₂. Release of accumulated IMP as hypoxanthine occurred at alkaline pH values and low external phosphate concentrations. Conditions favou
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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.

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Vitamin B12 (cobalamin, Cbl) is required as a cofactor for two human enzymes: methylmalonyl-CoA mutase (MCM) and methionine synthase (MS). Fibroblasts from patients with inborn errors of cobalamin metabolism have been classified into nine distinct complementation classes ( cblA-cblH and mut). Previous studies have shown that cobalamin binds MCM in mitochondria and MS in the cytosol. Cobalamin binding patterns were analyzed in crude mitochondrial fractions obtained from normal and mutant fibroblasts. Crude mitochondrial fractions from wildtype fibroblasts confirmed that the majority of [57Co]Cb
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MIGNANI, LUCA. "Study of inborn errors of Coenzyme A biosynthesis using Danio rerio animal models." Doctoral thesis, Università degli studi di Brescia, 2022. http://hdl.handle.net/11379/558461.

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Animal models are widely used to investigate the pathogenesis and molecular processes involved in the development and progression of human diseases. The Danio rerio, assumed a predominant role in the last decade due to some characteristics such as ease of use, the high number of embryos obtainable, the possibility to follow embryonic development and a completely sequenced genome. Neurodegeneration with Brain Iron Accumulation (NBIA) is a family of diseases characterized by a peculiar accumulation of iron in the brain. All known forms of NBIA are induced by mutations in single genes that code f
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MIGNANI, LUCA. "Study of inborn errors of Coenzyme A biosynthesis using Danio rerio animal models." Doctoral thesis, Università degli studi di Brescia, 2022. http://hdl.handle.net/11379/558476.

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Animal models are widely used to investigate the pathogenesis and molecular processes involved in the development and progression of human diseases. The Danio rerio, assumed a predominant role in the last decade due to some characteristics such as ease of use, the high number of embryos obtainable, the possibility to follow embryonic development and a completely sequenced genome. Neurodegeneration with Brain Iron Accumulation (NBIA) is a family of diseases characterized by a peculiar accumulation of iron in the brain. All known forms of NBIA are induced by mutations in single genes that code f
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MIGNANI, LUCA. "Study of inborn errors of Coenzyme A biosynthesis using Danio rerio animal models." Doctoral thesis, Università degli studi di Brescia, 2022. http://hdl.handle.net/11379/558458.

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Animal models are widely used to investigate the pathogenesis and molecular processes involved in the development and progression of human diseases. The Danio rerio, assumed a predominant role in the last decade due to some characteristics such as ease of use, the high number of embryos obtainable, the possibility to follow embryonic development and a completely sequenced genome. Neurodegeneration with Brain Iron Accumulation (NBIA) is a family of diseases characterized by a peculiar accumulation of iron in the brain. All known forms of NBIA are induced by mutations in single genes that code f
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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.

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Cobalamin must be metabolized intracellularly in order to bind two enzymes: methionine synthase in cytoplasm and methylmalonyl-CoA mutase in mitochondria. Defects in this process cause different inborn errors of cobalamin metabolism (cblA-cblG and mut). A previous study described a cobalamin-binding protein, in addition to methylmalonyl-CoA mutase, in crude mitochondrial fractions. The amount of [57Co]cobalamin bound to this protein was increased in cblB, mut and cblD variant2 cell lines, compared to control cell lines. In the present study, this protein was identified as transcobalamin (TC).
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Livres sur le sujet "Inborn Errors"

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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. Raven Press, 1991.

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Houser, Christine M. Pediatric Genetics and Inborn Errors of Metabolism. Springer New York, 2014. http://dx.doi.org/10.1007/978-1-4939-0581-2.

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H, Fensom Anthony, ed. Genetic biochemical disorders. Oxford University Press, 1985.

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Benson, P. F. Genetic biochemical disorders. Oxford University Press, 1985.

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H, Fensom Anthony, ed. Genetic biochemical disorders. Oxford University Press, 1986.

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Kari, Carol. Gaucher's disease: A nurse's handbook : Clinical Center. U.S. Dept. of Health and Human Services, Public Health Service, National Institutes of Health, Office of Clinical Reports and Inquiries, Clinical Center, 1986.

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Salzer, Elisabeth. Identifying Novel Inborn Errors of the Immune System. Springer Fachmedien Wiesbaden, 2017. http://dx.doi.org/10.1007/978-3-658-16796-7.

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1921-, Fernandes J., Saudubray J. M. 1937-, and Van den Berghe, Georges, 1938-, eds. Inborn metabolic diseases: Diagnosis and treatment. 2nd ed. Springer-Verlag, 1995.

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J, Shaw Duncan, ed. Molecular genetics of human inherited disease. Wiley, 1995.

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Collins, Jane Elizabeth. Isotope turnover studies in children with inborn errors of metabolism. University of Birmingham, 1988.

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Chapitres de livres sur le sujet "Inborn Errors"

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Kamboj, Manmohan K. "Inborn Errors of Metabolism." In Neurodevelopmental Disabilities. Springer Netherlands, 2011. http://dx.doi.org/10.1007/978-94-007-0627-9_4.

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Holzman, Robert S., Thomas J. Mancuso, Navil F. Sethna, and James A. DiNardo. "Inborn Errors of Metabolism." In Pediatric Anesthesiology Review. Springer New York, 2010. http://dx.doi.org/10.1007/978-1-4419-1617-4_24.

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Holzman, Robert S. "Inborn Errors of Metabolism." In Pediatric Anesthesiology Review. Springer International Publishing, 2021. http://dx.doi.org/10.1007/978-3-030-60656-5_43.

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Holzman, Robert S. "Inborn Errors of Metabolism." In Pediatric Anesthesiology Review. Springer International Publishing, 2017. http://dx.doi.org/10.1007/978-3-319-48448-8_30.

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Arnemann, J. "Inborn errors of metabolism." In Springer Reference Medizin. Springer Berlin Heidelberg, 2019. http://dx.doi.org/10.1007/978-3-662-48986-4_3508.

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Arnemann, J. "Inborn errors of metabolism." In Lexikon der Medizinischen Laboratoriumsdiagnostik. Springer Berlin Heidelberg, 2018. http://dx.doi.org/10.1007/978-3-662-49054-9_3508-1.

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Goetsch, Allison L., Dana Kimelman, and Teresa K. Woodruff. "Inborn Errors of Metabolism." In Fertility Preservation and Restoration for Patients with Complex Medical Conditions. Springer International Publishing, 2017. http://dx.doi.org/10.1007/978-3-319-52316-3_7.

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Roesser, Jessica L. "Inborn Errors of Metabolism." In Encyclopedia of Autism Spectrum Disorders. Springer New York, 2018. http://dx.doi.org/10.1007/978-1-4614-6435-8_27-3.

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Burlina, Alberto, Andrea Celato, and Alessandro P. Burlina. "Inborn Errors of Metabolism." In Prognosis of Neurological Diseases. Springer Milan, 2015. http://dx.doi.org/10.1007/978-88-470-5755-5_19.

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Babineau, Shannon E. "Inborn Errors of Metabolism." In Mount Sinai Expert Guides. John Wiley & Sons, Ltd, 2016. http://dx.doi.org/10.1002/9781118621042.ch29.

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Actes de conférences sur le sujet "Inborn Errors"

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Khaksari, Kosar, Wei-Liang Chen, Sasha Santiago, and Andrea Gropman. "Brain biomarkers of inborn errors of metabolism using fNIRS." In Clinical and Translational Neurophotonics 2025, edited by Jana M. Kainerstorfer, Erin M. Buckley, and Vivek J. Srinivasan. SPIE, 2025. https://doi.org/10.1117/12.3059219.

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Batani, V., E. Benetti, J. Mahajne, et al. "POS0376 HUMAN INBORN ERRORS OF IMMUNITY IN IgG4 RELATED DISEASE." In EULAR 2024 European Congress of Rheumatology, 12-15 June. Vienna, Austria. BMJ Publishing Group Ltd and European League Against Rheumatism, 2024. http://dx.doi.org/10.1136/annrheumdis-2024-eular.3221.

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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.

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Siddiqui, Duygu Özbek, and Leyla Tümer. "200 Do doctors know what they do not know about inborn errors of metabolism." In Royal College of Paediatrics and Child Health, Abstracts of the RCPCH Conference, Glasgow, 23–25 May 2023. BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health, 2023. http://dx.doi.org/10.1136/archdischild-2023-rcpch.275.

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Busack, Leonie Marie, Stephanie Thee, Yvonne Liu, et al. "Multiple-breath washout for the detection of lung disease in patients with inborn errors of immunity." In ERS International Congress 2023 abstracts. European Respiratory Society, 2023. http://dx.doi.org/10.1183/13993003.congress-2023.pa4472.

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Andrea, Largent, Kathi Lambert, Chiang Kristy, 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.

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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.

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Rosso, Mattia, and Federico Rodriguez-Porcel. "Neuropsychiatric Presentations in Late-onset Inborn Errors of the Metabolism: A Systematic Review of the Literature (P2-12.008)." In 2023 Annual Meeting Abstracts. Lippincott Williams & Wilkins, 2023. http://dx.doi.org/10.1212/wnl.0000000000202742.

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Khalil, Youssef, Rohit Hirachan, Francesca Mazzacuva, Helen Prunty, Philippa Mills, and Peter Clayton. "OC39 Diagnosis and monitoring treatment for inborn errors of bile acid synthesis: moving towards dried blood spot analyses." In Abstracts of the BSPGHAN 38th Annual Meeting, 20–22 March 2024, The Bristol Hotel, Bristol, UK. BMJ Publishing Group Ltd, 2024. http://dx.doi.org/10.1136/flgastro-2024-bspghan.38.

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de Melo, Laura Defensor Ribeiro, Saul Alquez Montano, Maria Avanise Yumi Minami, and Ana Paula Andrade Hamad. "Case series on type I gangliosidosis at a reference service for inborn errors of metabolism: from diagnostic strategies to therapeutic perspectives." In SBN Conference 2022. Thieme Revinter Publicações Ltda., 2023. http://dx.doi.org/10.1055/s-0043-1774551.

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Rapports d'organisations sur le sujet "Inborn Errors"

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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, 2006. http://dx.doi.org/10.32747/2006.7695872.bard.

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As Americans become increasingly health conscious, they have increased their consumptionof boneless white and skinless poultry meat. To the poultry industry, accurate detection of bonefragments and other hazards in de-boned poultry meat is important to ensure food quality andsafety for consumers. X-ray imaging is widely used for internal material inspection. However,traditional x-ray technology has limited success with high false-detection errors mainly becauseof its inability to consistently recognize bone fragments in meat of uneven thickness. Today’srapid grow-out practices yield chicken bo
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