Below are the most recent publications written about "Metabolism, Inborn Errors" by people in Profiles.
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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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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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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.
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Arn P, Funanage VL. 3-methylglutaconic aciduria disorders: the clinical spectrum increases. J Pediatr Hematol Oncol. 2006 Feb; 28(2):62-3.
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Hoffman AR, Kuntze JE, Baptista J, Baum HB, Baumann GP, Biller BM, Clark RV, Cook D, Inzucchi SE, Kleinberg D, Klibanski A, Phillips LS, Ridgway EC, Robbins RJ, Schlechte J, Sharma M, Thorner MO, Vance ML. Growth hormone (GH) replacement therapy in adult-onset gh deficiency: effects on body composition in men and women in a double-blind, randomized, placebo-controlled trial. J Clin Endocrinol Metab. 2004 May; 89(5):2048-56.
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Ikewaki K, Cain W, Thomas F, Shamburek R, Zech LA, Usher D, Brewer HB, Rader DJ. Abnormal in vivo metabolism of apoB-containing lipoproteins in human apoE deficiency. J Lipid Res. 2004 Jul; 45(7):1302-11.
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Rakocevic G, Lyons KE, Wilkinson SB, Overman JW, Pahwa R. Bilateral pallidotomy for severe dystonia in an 18-month-old child with glutaric aciduria. Stereotact Funct Neurosurg. 2004; 82(2-3):80-3.