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1.
Carbamylphosphate synthetase-I deficiency in a newborn: survival after early diagnosis and therapy.
Raghavan, K; Chabra, S; Mondkar, J; Aiyar, R; Ambani, L M; Fernandez, A.
Indian Pediatr ; 1991 May; 28(5): 551-4
Article in English | IMSEAR | ID: sea-14026

Subject(s)
Amino Acid Metabolism, Inborn Errors/blood , Ammonia/blood , Carbamoyl-Phosphate Synthase (Ammonia)/deficiency , Combined Modality Therapy , Female , Humans , Infant, Newborn , Time Factors
2.
Hiperamoniemia congénita: informe de 1 paciente / Congenital hyperammonemia: report of a patient
Piñeiro Lamas, Regino; Jiménez Pantoja, Oscar R; Alvarez Paz, José; Gutiérrez Hernández, Idania.
Rev. cuba. pediatr ; 59(4): 681-6, jul.-ago. 1987. ilus, tab
Article in Spanish | LILACS | ID: lil-53257

ABSTRACT

Se presenta un paciente que padece de hiperamoniemia congénita por déficit enzimático del ciclo de la urea. Se plantea por las características clinicohumorales que sea debido a un déficit parcial de carbamilfosfato sintetasa. Se hacen comentarios al respecto


Subject(s)
Infant , Humans , Male , Carbamoyl-Phosphate Synthase (Ammonia)/deficiency
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