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Items: 13


Significant hepatic involvement in patients with ornithine transcarbamylase deficiency.

Gallagher RC, Lam C, Wong D, Cederbaum S, Sokol RJ.

J Pediatr. 2014 Apr;164(4):720-725.e6. doi: 10.1016/j.jpeds.2013.12.024. Epub 2014 Jan 30.


Recurrent abdominal pain in childhood.

Bullimore DW.

Br Med J. 1980 Aug 2;281(6236):389. No abstract available.


Hyperammonaemia. A variant type of deficiency of liver ornithine transcarbamylase.

Levin B, Dobbs RH, Burgess EA, Palmer T.

Arch Dis Child. 1969 Apr;44(234):162-9. No abstract available.


Carbamylphosphate synthetase deficiency in an infant with severe cerebral damage.

Hommes FA, De Groot CJ, Wilmink CW, Jonxis JH.

Arch Dis Child. 1969 Dec;44(238):688-93. No abstract available.


Periodic attacks of lethargy in a baby with ammonia intoxication due to a congenital defect in ureogenesis.

Corbeel LM, Colombo JP, Van Sande M, Weber A.

Arch Dis Child. 1969 Dec;44(238):681-7. No abstract available.


Hyperammonaemia in 20 families. Biochemical and genetical survey, including investigations in 3 new families.

Palmer T, Oberholzer VG, Burgess EA, Butler LJ, Levin B.

Arch Dis Child. 1974 Jun;49(6):443-9. No abstract available.


X-chromosome inactivation in human liver: confirmation of X-linkage of ornithine transcarbamylase.

Ricciuti FC, Gelehrter TD, Rosenberg LE.

Am J Hum Genet. 1976 Jul;28(4):332-8.


Orotic aciduria in two unrelated patients with inherited deficiencies of purine nucleoside phosphorylase.

Cohen A, Staal GE, Ammann AJ, Martin DW Jr.

J Clin Invest. 1977 Aug;60(2):491-4.


Neonatal hyperammonaemia with complete absence of liver carbamyl phosphate synthetase activity.

Mantagos S, Tsagaraki S, Burgess EA, Oberholzer V, Palmer T, Sacks J, Baibas S, Valaes T.

Arch Dis Child. 1978 Mar;53(3):230-4.

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