Harnstoffzyklusdefekte

Ficicioglu C, Mandell R, Shih VE. Argininosuccinate lyase deficiency: longterm outcome of 13 patients detected by newborn screening. Mol Genet Metab (2009) 98:273-7.
Atiq M, Holt AF, Safdar K, Weber F, Ravinuthala R, Jonas M, Neff GW. Adult onset urea cycle disorder in a patient with presumed hepatic encephalopathy. J Clin Gastroenterology (2008) 42:213-214.
Enns GM, Berry SA, Berry GT, Rhead WJ, Brusilow SW, Hamosh A. Survival after treatment with phenylacetate and benzoate for urea-cycle disorders. NEJM (2007) 356:2282-2292.
Summar ML, Barr F, Dawling S, Smith W, Lee B, Singh RH, Rhead WJ, Sniderman King L, Christman BW. Unmasked adult-onset urea cycle disorders in the critical care setting. Crit Care Clin (2005) 21,Suppl:S1-8.
Wilson BE, Hobbs WN, Newmark JJ, Farrow SJ. Rapidly fatal hyperammonemic coma in adults. Urea cycle enzyme deficiency. West J Med (1994) 161: 166–168.

Arbeitsgemeinschaft für angeboreneStoffwechselstörungen in der Inneren Medizin