Below are the most recent publications written about "Metabolism, Inborn Errors" by people in Profiles.
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Stine ZE, Schug ZT, Salvino JM, Dang CV. Targeting cancer metabolism in the era of precision oncology. Nat Rev Drug Discov. 2022 02; 21(2):141-162.
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Pradhan BK, van Helmond N, Mitrev LV, Andonakakis AA. Hereditary pseudocholinesterase deficiency discovery after electroconvulsive therapy. BMJ Case Rep. 2021 Jan 18; 14(1).
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Klinkhammer BM, Djudjaj S, Kunter U, Palsson R, Edvardsson VO, Wiech T, Thorsteinsdottir M, Hardarson S, Foresto-Neto O, Mulay SR, Moeller MJ, Jahnen-Dechent W, Floege J, Anders HJ, Boor P. Cellular and Molecular Mechanisms of Kidney Injury in 2,8-Dihydroxyadenine Nephropathy. J Am Soc Nephrol. 2020 04; 31(4):799-816.
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Sherazi NA, Khan AH, Jafri L, Jamil A, Khan NA, Afroze B. Selective Screening for Organic Acidurias and Amino Acidopathies in Pakistani Children. J Coll Physicians Surg Pak. 2017 Apr; 27(4):218-221.
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Tepper SJ. Cyclic vomiting syndrome, inborn errors of metabolism, migraine variants, episodic syndromes that may be associated with migraine, and other unusual pediatric headache syndromes. Headache. 2016 Jan; 56(1):205.
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Miller MJ, Kennedy AD, Eckhart AD, Burrage LC, Wulff JE, Miller LA, Milburn MV, Ryals JA, Beaudet AL, Sun Q, Sutton VR, Elsea SH. Untargeted metabolomic analysis for the clinical screening of inborn errors of metabolism. J Inherit Metab Dis. 2015 Nov; 38(6):1029-39.
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Takeichi T, Hsu CK, Yang HS, Chen HY, Wong TW, Tsai WL, Chao SC, Lee JY, Akiyama M, Simpson MA, McGrath JA. Progressive hyperpigmentation in a Taiwanese child due to an inborn error of vitamin B12 metabolism (cblJ). Br J Dermatol. 2015 Apr; 172(4):1111-5.
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Bruckman KC, Napoli JA, Diecidue RJ, Gold L. Facial dysmorphology and odontogenic tumor development associated with inborn errors of metabolism: a case report. J Oral Maxillofac Surg. 2015 Feb; 73(2):274-83.
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De Zoysa Ariyananda L, Antonopoulos C, Currier J, Colman RF. In vitro hybridization and separation of hybrids of human adenylosuccinate lyase from wild-type and disease-associated mutant enzymes. Biochemistry. 2011 Mar 1; 50(8):1336-46.
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Brennan SO, Davis RL, Conard K, Savo A, Furuya KN. Novel fibrinogen mutation ?314Thr?Pro (fibrinogen AI duPont) associated with hepatic fibrinogen storage disease and hypofibrinogenaemia. Liver Int. 2010 Nov; 30(10):1541-7.