Fatal Hyperammonemia After Renal Transplant due to Late-Onset Urea Cycle Deficiency: A Case Report

Urea Cycle Disorders: Diagnosis, Pathophysiology, and Therapy

Saul W. Brusilow, Nancy E. Maestri · Advances in Pediatrics · 1996 · 352 citations

Urological Research, Urology, Medicine +4

Estimation of the total number of disease‐causing mutations in ornithine transcarbamylase (OTC) deficiency. Value of the OTC structure in predicting a mutation pathogenic potential

José Antonio Arranz, E. Riudor, Clara Marco‐Marín et al. · Journal of Inherited Metabolic Disease · 2007 · 45 citations

Late-onset presentation of ornithine transcarbamylase deficiency in a young woman with hyperammonemic coma

Rita Gaspari, A Arcangeli, Sonia Mensi et al. · Annals of Emergency Medicine · 2003 · 34 citations

Late-onset Presentation, Inherited Metabolic Disease, Neurology +4

Serious pregnancy complications in a patient with previously undiagnosed carnitine palmitoyltransferase 1 deficiency

Kati Ylitalo, T Vänttinen, Erja Halmesmäki et al. · American Journal of Obstetrics and Gynecology · 2005 · 31 citations · Full text

Infertility, Gynecology, Maternal Health +6

Urea cycle disorders

Soledad Kleppe, Asad Mian, Brendan Lee · Current Treatment Options in Neurology · 2003 · 26 citations

Urology, Medicine, Female Urology +4