Journal articles on the topic 'Inborn errors of'
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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.
Moutsopoulos, N. M., M. S. Lionakis, and G. Hajishengallis. "Inborn Errors in Immunity." Journal of Dental Research 94, no. 6 (April 21, 2015): 753–58. http://dx.doi.org/10.1177/0022034515583533.
Mitchell, G. A., S. P. Wang, L. Ashmarina, M. F. Robert, G. Bouchard, N. Laurin, S. Kassovska-Bratinova, and Y. Boukaftane. "Inborn errors of ketogenesis." Biochemical Society Transactions 26, no. 2 (May 1, 1998): 136–40. http://dx.doi.org/10.1042/bst0260136.
El-Hattab, Ayman W., and V. Reid Sutton. "Inborn Errors of Metabolism." Pediatric Clinics of North America 65, no. 2 (April 2018): i. http://dx.doi.org/10.1016/s0031-3955(18)30012-9.
New, Maria I. "Inborn Errors of Steroidogenesis." Steroids 63, no. 5-6 (May 1998): 238–42. http://dx.doi.org/10.1016/s0039-128x(98)00028-2.
Saudubray, J. M. "Inborn errors of metabolism." Seminars in Neonatology 7, no. 1 (February 2002): 1. http://dx.doi.org/10.1053/siny.2001.0082.
Sawley, Linda. "Inborn errors of metabolism." Paediatric Nursing 10, no. 5 (June 1998): 25–27. http://dx.doi.org/10.7748/paed.10.5.25.s21.
El-Hattab, Ayman W. "Inborn Errors of Metabolism." Clinics in Perinatology 42, no. 2 (June 2015): 413–39. http://dx.doi.org/10.1016/j.clp.2015.02.010.
Vernon, Hilary J. "Inborn Errors of Metabolism." JAMA Pediatrics 169, no. 8 (August 1, 2015): 778. http://dx.doi.org/10.1001/jamapediatrics.2015.0754.
Mizoguchi, Yoko, and Satoshi Okada. "Inborn errors of STAT1 immunity." Current Opinion in Immunology 72 (October 2021): 59–64. http://dx.doi.org/10.1016/j.coi.2021.02.009.
Almannai, Mohammed, Majid Alfadhel, and Ayman W. El-Hattab. "Carnitine Inborn Errors of Metabolism." Molecules 24, no. 18 (September 6, 2019): 3251. http://dx.doi.org/10.3390/molecules24183251.
Lennard, Martin S., Geoffrey T. Tucker, and H. Frank Woods. "Inborn ???Errors??? of Drug Metabolism." Clinical Pharmacokinetics 19, no. 4 (October 1990): 257–63. http://dx.doi.org/10.2165/00003088-199019040-00001.
Surtees, Robert, Philippa Mills, and Peter Clayton. "Inborn errors affecting vitamin B6metabolism." Future Neurology 1, no. 5 (September 2006): 615–20. http://dx.doi.org/10.2217/14796708.1.5.615.
MacFarlane, A. W. "Inborn errors of lipid metabolism." Clinical and Experimental Dermatology 14, no. 4 (July 1989): 334. http://dx.doi.org/10.1111/j.1365-2230.1989.tb02004.x.
Blau, N. "Inborn Errors of Pterin Metabolism." Annual Review of Nutrition 8, no. 1 (July 1988): 185–209. http://dx.doi.org/10.1146/annurev.nu.08.070188.001153.
Van den Berghe, Georges. "Inborn Errors of Fructose Metabolism." Annual Review of Nutrition 14, no. 1 (July 1994): 41–58. http://dx.doi.org/10.1146/annurev.nu.14.070194.000353.
Worwood, M. "Inborn errors of metabolism: iron." British Medical Bulletin 55, no. 3 (January 1, 1999): 556–67. http://dx.doi.org/10.1258/0007142991902628.
Hommes, F. A. "Inborn errors of fructose metabolism." American Journal of Clinical Nutrition 58, no. 5 (November 1, 1993): 788S—795S. http://dx.doi.org/10.1093/ajcn/58.5.788s.
Surtees, R. "Inborn errors of neurotransmitter receptors." Journal of Inherited Metabolic Disease 22, no. 4 (June 1999): 374–80. http://dx.doi.org/10.1023/a:1005591820414.
New, Maria I. "Inborn errors of adrenal steroidogenesis." Molecular and Cellular Endocrinology 211, no. 1-2 (December 2003): 75–84. http://dx.doi.org/10.1016/j.mce.2003.09.013.
Saudubray, Jean-Marie, and Àngels Garcia-Cazorla. "Inborn Errors of Metabolism Overview." Pediatric Clinics of North America 65, no. 2 (April 2018): 179–208. http://dx.doi.org/10.1016/j.pcl.2017.11.002.
Mitsubuchi, Hiroshi, Kimitoshi Nakamura, Shiro Matsumoto, and Fumio Endo. "Inborn Errors of Proline Metabolism." Journal of Nutrition 138, no. 10 (October 1, 2008): 2016S—2020S. http://dx.doi.org/10.1093/jn/138.10.2016s.
Leonard, J. V. "Teratogenic inborn errors of metabolism." Postgraduate Medical Journal 62, no. 724 (February 1, 1986): 125–29. http://dx.doi.org/10.1136/pgmj.62.724.125.
Nyhan, W. L. "Inborn errors of biotin metabolism." Archives of Dermatology 123, no. 12 (December 1, 1987): 1696–98. http://dx.doi.org/10.1001/archderm.123.12.1696.
Gibson, Kenneth M., William L. Nyhan, and Jaak Jaeken. "Inborn errors of GABA metabolism." BioEssays 4, no. 1 (January 1986): 24–27. http://dx.doi.org/10.1002/bies.950040107.
Batshaw, Mark L. "Inborn errors of urea synthesis." Annals of Neurology 35, no. 2 (February 1994): 133–41. http://dx.doi.org/10.1002/ana.410350204.
Nyhan, William L. "Inborn Errors of Biotin Metabolism." Archives of Dermatology 123, no. 12 (December 1, 1987): 1696. http://dx.doi.org/10.1001/archderm.1987.01660360146027.
Mayatepek, Ertan, Björn Hoffmann, and Thomas Meissner. "Inborn errors of carbohydrate metabolism." Best Practice & Research Clinical Gastroenterology 24, no. 5 (October 2010): 607–18. http://dx.doi.org/10.1016/j.bpg.2010.07.012.
Veiga‐da‐Cunha, Maria, Emile Van Schaftingen, and Guido T. Bommer. "Inborn errors of metabolite repair." Journal of Inherited Metabolic Disease 43, no. 1 (December 29, 2019): 14–24. http://dx.doi.org/10.1002/jimd.12187.
Lodh, Moushumi, and Joshi Anand Kerketta. "Citrullinemia and Hyperglycinemia Presenting with Seizures - Case Report of a 4 Day Old Baby." Asian Journal of Medical Sciences 3, no. 1 (February 18, 2013): 17–20. http://dx.doi.org/10.3126/ajms.v3i1.4801.
Tiri, Alessandra, Riccardo Masetti, Francesca Conti, Anna Tignanelli, Elena Turrini, Patrizia Bertolini, Susanna Esposito, and Andrea Pession. "Inborn Errors of Immunity and Cancer." Biology 10, no. 4 (April 9, 2021): 313. http://dx.doi.org/10.3390/biology10040313.
MP, Narayanan. "Inborn Errors of Metabolism: Indian Scenario." Acta Scientific Paediatrics 2, no. 11 (October 22, 2019): 50–52. http://dx.doi.org/10.31080/aspe.2019.02.0169.
Rice, G. M., and R. D. Steiner. "Inborn Errors of Metabolism (Metabolic Disorders)." Pediatrics in Review 37, no. 1 (January 1, 2016): 3–17. http://dx.doi.org/10.1542/pir.2014-0122.
Belousova, E. D. "EPILEPSY IN INBORN ERRORS OF METABOLISM." Epilepsia and paroxyzmal conditions 8, no. 1 (January 1, 2016): 55–61. http://dx.doi.org/10.17749/2077-8333.2016.8.1.055-061.
Seth, Neha, Karen S. Tuano, and Javier Chinen. "Inborn errors of immunity: Recent progress." Journal of Allergy and Clinical Immunology 148, no. 6 (December 2021): 1442–50. http://dx.doi.org/10.1016/j.jaci.2021.10.010.
Yamashita, Motoi, and Tomohiro Morio. "Inborn errors of IKAROS and AIOLOS." Current Opinion in Immunology 72 (October 2021): 239–48. http://dx.doi.org/10.1016/j.coi.2021.06.010.
RAHMAN, SHAMIMA, EMMA J. FOOTITT, SOPHIA VARADKAR, and PETER T. CLAYTON. "Inborn errors of metabolism causing epilepsy." Developmental Medicine & Child Neurology 55, no. 1 (September 24, 2012): 23–36. http://dx.doi.org/10.1111/j.1469-8749.2012.04406.x.
Casanova, Jean-Laurent, and Laurent Abel. "Inborn errors of immunity to infection." Journal of Experimental Medicine 202, no. 2 (July 18, 2005): 197–201. http://dx.doi.org/10.1084/jem.20050854.
Fukao, Toshiyuki, and Kimitoshi Nakamura. "Advances in inborn errors of metabolism." Journal of Human Genetics 64, no. 2 (January 25, 2019): 65. http://dx.doi.org/10.1038/s10038-018-0535-7.
Kwon, Jennifer M. "Testing for Inborn Errors of Metabolism." CONTINUUM: Lifelong Learning in Neurology 24, no. 1 (February 2018): 37–56. http://dx.doi.org/10.1212/con.0000000000000563.
Kimonis, Virginia. "Dysmorphology of inborn errors of metabolism." Molecular Cytogenetics 7, Suppl 1 (2014): I39. http://dx.doi.org/10.1186/1755-8166-7-s1-i39.