Amino Acid Metabolism, Inborn Errors
This graph shows the total number of publications written about "Amino Acid Metabolism, Inborn Errors" by people in the URMC Research Network by year, and whether "Amino Acid Metabolism, Inborn Errors" was a major or minor topic of these publication.
Below are the most recent publications written about "Amino Acid Metabolism, Inborn Errors" by people in Profiles.
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Williams ZR, Hurley PE, Altiparmak UE, Feldon SE, Arnold GL, Eggenberger E, Mejico LJ. Late onset optic neuropathy in methylmalonic and propionic acidemia. Am J Ophthalmol. 2009 May; 147(5):929-33.
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Hostetler MA, Arnold GL, Mooney R, Bennett MJ, Rinaldo P, Roe CR. Hypoketotic hypoglycemic coma in a 21-month-old child. Ann Emerg Med. 1999 Sep; 34(3):394-8.
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Batshaw ML, Yudkoff M, McLaughlin BA, Gorry E, Anegawa NJ, Smith IA, Hyman SL, Robinson MB. The sparse fur mouse as a model for gene therapy in ornithine carbamoyltransferase deficiency. Gene Ther. 1995 Dec; 2(10):743-9.
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Katzman PJ, Arnold GL. Propionic acidemia presenting as pyloric stenosis. Clin Pediatr (Phila). 1995 Nov; 34(11):613-5.
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Miga DE, Roth KS. Hyperammonemia: the silent killer. South Med J. 1993 Jul; 86(7):742-7.
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Batshaw ML, Hyman SL, Coyle JT, Robinson MB, Qureshi IA, Mellits ED, Quaskey S. Effect of sodium benzoate and sodium phenylacetate on brain serotonin turnover in the ornithine transcarbamylase-deficient sparse-fur mouse. Pediatr Res. 1988 Apr; 23(4):368-74.
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Hyman SL, Porter CA, Page TJ, Iwata BA, Kissel R, Batshaw ML. Behavior management of feeding disturbances in urea cycle and organic acid disorders. J Pediatr. 1987 Oct; 111(4):558-62.
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Hyman SL, Coyle JT, Parke JC, Porter C, Thomas GH, Jankel W, Batshaw ML. Anorexia and altered serotonin metabolism in a patient with argininosuccinic aciduria. J Pediatr. 1986 May; 108(5 Pt 1):705-9.
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Hyman SL, Batshaw ML. A case of ornithine transcarbamylase deficiency with Rett syndrome manifestations. Am J Med Genet Suppl. 1986; 1:339-43.
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Holt JT, Arvan DA, Mayer TK. Masking by enzyme inhibitor of raised serum glutamate dehydrogenase activity in Reye's syndrome. Lancet. 1983 Jul 2; 2(8340):4-7.
